CURRICULUM VITAE
David P. Bick, MD
OFFICE ADDRESS: The Smith Clinic for Genomic Medicine, LLC 701 McMillian Way NW, Ste A Huntsville, AL 35806
EDUCATION: 8/1973-5/1977 AB, Cornell University, Ithaca, NY 8/1977-5/1981 MD, George Washington University School of Medicine, Washington, DC
POSTGRADUATE TRAINING AND FELLOWSHIP APPOINTMENTS: 7/1981-7/1982 Intern in Pediatrics, Yale New Haven Hospital, New Haven, CT 7/1982-7/1984 Resident in Pediatrics, Yale New Haven Hospital, New Haven, CT 7/1984-7/1986 Fellow, Department of Human Genetics, Human Genetics and Pediatrics, Yale School of
Medicine, New Haven, CT 7/1986-7/1987 Postdoctoral Research Fellow, Department of Human Genetics, Yale University School of
Medicine, New Haven, CT
FACULTY APPOINTMENTS: 7/1987-7/1989 Assistant Professor, Pediatrics, and Cellular and Structural Biology, University of Texas
Health Science Center, San Antonio, TX 9/1989-12/2001 Clinical Geneticist, Genetics and IVF Institute, Fairfax, VA 7/1991-12/2001 Affiliate Assistant Professor, Department of Human Genetics, School of Medicine,
Medical College of Virginia, Richmond, VA 7/1996-12/2001 Clinical Assistant Professor, School of Medicine, University of Virginia Health Sciences
Center, Charlottesville, VA 1/2002-7/2008 Associate Professor, Department of Pediatrics, Division of Medical Genetics, Medical
College of Wisconsin, Milwaukee, WI 10/2004-7/2008 Associate Professor, Department of Obstetrics & Gynecology, Medical College of
Wisconsin, Milwaukee, WI 7/2008-7/2015 Professor, Departments of Pediatrics and Obstetrics & Gynecology, Medical College of
Wisconsin, Milwaukee, WI 8/2015-6/2018 Clinical Professor, Department of Pediatrics, Medical College of Wisconsin, Milwaukee,
WI 9/2015-present Faculty Investigator, HudsonAlpha Institute for Biotechnology, Huntsville, AL 11/2015-present Volunteer Adjunct Professor, Department of Genetics, University of Alabama at
Birmingham, Birmingham, AL
ADMINISTRATIVE APPOINTMENTS: 5/1999-12/2001 President & CEO, Genetics & IVF Institute, Fairfax, VA 4/2008-1/2011 Interim Chief of Division of Genetics, Department of Pediatrics, Medical College of
Wisconsin, Milwaukee, WI 1/2011-7/2015 Section Chief, Department of Pediatrics, Division of Genetics, Medical College of
Wisconsin, Milwaukee, WI 9/2015-present Medical Director, Smith Family Clinic for Genomic Medicine, Huntsville, AL 9/2015-present Chief Medical Officer and Faculty Investigator, HudsonAlpha Institute for Biotechnology,
Huntsville, AL 9/2015-present Associate Director, Clinical Services Laboratory, HudsonAlpha Institute for
Biotechnology, Huntsville, AL
HOSPITAL AND CLINICAL ADMINISTRATIVE APPOINTMENTS:
5/2009-7/2015 Director, Advanced Genomics Laboratory, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI
2/20/2012-7/2015 Medical Director, Genetics Clinic, Children's Hospital of Wisconsin, Milwaukee, WI
HOSPITAL STAFF PRIVILEGES: 1/2016-5/2020 Huntsville Hospital, 101 Sivley Rd S.W., Huntsville, AL 35801
SPECIALTY BOARDS AND CERTIFICATION:
New York State Laboratory Department of Health Clinical Laboratory Evaluation Program Certificate of Qualification
Number Issue Date Expiration BICKD1 09/2003 09/2021
AWARDS AND HONORS: 5/1981 Alpha Omega Alpha Medical Honor Society 6/2006 Clinical Scholarship Award, Medical College of Wisconsin, Department of Pediatrics Clinical
Physician 8/2009 Outstanding Faculty Service Award, Medical College of Wisconsin 2009 Best Doctors in America 2009 Outstanding Medical Student Teachers, Medical College of Wisconsin 2010 Outstanding Medical Student Teachers, Medical College of Wisconsin 2010 Best Doctors in America 2011 Faculty Service Award, Medical College of Wisconsin 2011 Best Doctors in America 2012 Best Doctors in America 2013 Best Doctors in America 2014 Best Doctors in America 2017 Castle Connolly Top Doctor 2018 Castle Connolly Top Doctor 2019 Castle Connolly Top Doctor
Board Certified Issue Date Expiration
National Board of Medical Examiners 7/1/1982 None
American Board of Pediatrics 3/23/1986 None
American Board of Medical Genetics, Clinical Genetics
9/15/1987 None
American Board of Medical Genetics, Clinical Molecular Genetics
9/24/1993 12/31/2020
Rare Disease Advisory Council 5/30/2018 5/29/2021
Licensure Number Issue Date Expiration
Alabama Tennessee Wisconsin DEA Alabama DEA Wisconsin ACSC
MD.34482 54736 43761-020 FB5737448 AB2620335 ACSC34482
8/31/2015 9/26/2016 10/31/2013 6/14/2018 6/19/2015 1/1/2017
12/31/2020 5/31/2021 10/31/2021 7/31/2021 7/31/2021 12/31/2020
MEMBERSHIPS IN HONORARY AND PROFESSIONAL SOCIETIES: American College of Medical Genetics (Founding Fellow) American Society of Human Genetics (Member) American Academy of Pediatrics (Fellow)
EDITORSHIPS/EDITORIAL BOARDS/JOURNAL REVIEWS: Journal Review
American Journal of Human Genetics Pediatric Dermatology Journal Journal of Assisted Reproduction and Genetics
LOCAL/REGIONAL APPOINTED LEADERSHIP AND COMMITTEE POSITIONS: 3/1/2006-6/2015 Advisory Committee, Wisconsin Genetics System
NATIONAL AND INTERNATIONAL ELECTED/APPOINTED LEADERSHIP AND COMMITTEE POSITIONS: 2010-2013 Member, Organizing Committee, Next Generation Sequencing – Standardization of
Clinical Testing (NEx-StoCT) Conferences 2013-2015 Member, ACMG Interpretation of Sequence Variants Workgroup, American College of
Medical Genetics and Genomics and ACMG Foundation for Genetic and Genomic Medicine
2018-2019 Member, New Born Genomics Task and Finish Group convened at the request of the National Genomics Board of the UK
2019 Member, Genomic Volunteers Task and Finish Group convened at the request of the National Genomics Board of the UK
2013-present Member, Scientific Advisory Committee, Genomics England, United Kingdom 2016-present Member, ACMG NGS Best Practice Workgroup, American College of Medical Genetics
and Genomics 2019-present Member, ACMG Revision to Interpreting Sequence Variation Workgroup, American
College of Medical Genetics and Genomics
INVITED LECTURES/WORKSHOPS/PRESENTATIONS: 1. Preimplantation Genetic Diagnosis, Perinatal Assessment Center, Memorial Hospital of Burlington,
Burlington, WI, 4/15/2002
2. The Science and Ethics of Pre-implantation Genetic Diagnosis, Milwaukee Biotechnology Interest Group, Alumni Center, Medical College of Wisconsin, Milwaukee, WI, 4/29/2002
3. Genes and Neurodevelopment Disorders, Pediatric Grand Rounds, St. Luke’s Hospital, Racine, WI, 12/10/2002
4. Options for Patients with a Family History of a Genetic Disease, Resident Lecture, St. Michael Hospital, Family Care Center, Milwaukee, WI, 1/7/2003
5. Preimplantation Genetic Diagnosis, Perinatal Case Review Conference, Waukesha Memorial Hospital, Waukesha, WI, 1/23/2003
6. Genetics in 2003, St. Mary’s Hospital, Resident Lecture, Milwaukee, WI, 2/5/2003
7. Molecular Genetic Approach to Neurodevelopmental Disabilities, Wisconsin Genetics Exchange, Children’s Hospital of Wisconsin, Milwaukee, WI, 2/28/2003
8. Genes and Neurodevelopment Disorders, Saint Therese Medical Center, Waukegan, IL, 3/14/2003
9. Preimplantation Genetic Testing, Children’s Hospital of Wisconsin-Kenosha, Kenosha, WI, 5/7/2003
10. Recent Advances in the Genetics of Neurodevelopmental Disabilities, Grand Rounds, Children’s Hospital of Wisconsin Fox Valley, 5/14/2003
11. Preimplantation Genetic Testing, Children’s Hospital of Wisconsin, Pediatric Surgeon Fellowship Rounds, Milwaukee, WI, 8/1/2003
12. Preimplantation Genetic Diagnosis, Aurora Healthcare, Women’s Pavilion Presentation, Milwaukee, WI, 9/2/2003
13. Molecular Genetic Approach to Neurodevelopmental Disabilities, Medical College of Wisconsin, Department of Neurology/Neuropsychiatry Noon Conference, Milwaukee, WI, 9/16/2003
14. Prenatal and Preconception Options for Couples with a History of Genetic Disorder, Pediatric Noon Conference, Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI, 10/10/2003
15. F. Jackson Stoddard Memorial Lecture: A Practical Approach to Genetic Screening, Milwaukee Gynecological Society, Milwaukee, WI, 2/3/2004
16. Personalized Medicine, St. Mary’s Hospital, Grand Rounds, Milwaukee, WI, 2/4/2004
17. Genetics for the Obstetrician and Gynecologist, St. Mary’s Hospital, Resident Lecture, Milwaukee, WI, 4/7/2004
18. Updates in Prenatal Genetics, 2004 Pediatric Grand Rounds, St. Therese Medical Center, Waukegan, IL, 8/13/2004
19. Updates in Prenatal Genetics, Kenosha Hospital Medical Center, Kenosha, WI, 5/5/2004
20. Preimplantation Genetics: Diagnoses and Treatment, American College of Obstetricians & Gynecologists and Wisconsin Society of Obstetrics & Gynecology 2004 Annual Meeting, Wisconsin Dells, WI, 7/24/2004
21. Reproductive Options for Patients with Fragile X Syndrome, Medical Ethics Committee, Aurora Sheboygan Memorial Hospital, 11/17/2004
22. Updates in Prenatal Genetics, Continuing Medical Education Program, Waukesha Memorial Hospital, Waukesha, WI, 1/4/2005
23. Personalized Medicine, Waukesha Memorial Hospital, 8/2/2005
24. Infertility and Genetics: What the Healthcare Provider Should Know, Reproductive Medicine Symposium: Building Families Through Teamwork and Technology, Waukesha, WI, 9/23/2005
25. Preimplantation Genetic Diagnosis in 2005, Wisconsin Genetics Exchange, Children’s Hospital of Wisconsin, Milwaukee, WI, 10/14/2005
26. Infertility and Genetics: What the Healthcare Provider Should Know, Midwest Infertility Nurse’s Council, Sheboygan, WI, 2/2/2006
27. Genetic Testing: Overview of Your Options, Froedtert Hospital Community Education Class, Milwaukee, WI, 5/22/2006
28. When should you offer preimplantation genetic diagnosis to your patients?, Second Annual Reproductive Medicine Symposium: Building Families Through Teamwork and Technology, Waukesha, WI, 9/29/2006
29. Genetics in clinical investigation: Bedside to Bench and back!, Genetics Seminar Series, General Clinical Research Center, Medical College of Wisconsin, Milwaukee, WI, 10/17/2006
30. Use of multiplex amplifiable probe hybridization to detect the etiology of mental retardation, Human Molecular Genetics Center Seminar, Medical College of Wisconsin, Milwaukee, WI, 10/19/2006
31. Indications for preimplantation genetic diagnosis, 31st Annual Perinatal Day, Fox Valley Perinatal Association, Appleton, WI, 11/1/2006
32. Genetics in 2007: What practitioners need to know about cystic fibrosis and other genetic disorders, Waukesha Memorial Hospital, Grand Rounds, Waukesha, WI, 3/13/2007
33. Genetic Disorders with Orthopedic manifestations, Orthopedic Residents, Children’s Hospital of Wisconsin, Milwaukee, WI, 4/11/2007
34. Preimplantation Genetic Diagnosis (PGD), Blood Center of Wisconsin, Milwaukee, WI, 5/29/2007
35. Personalized Medicine, Columbia St. Mary's Hospital, Milwaukee, WI, 6/5/2007
36. Genetic Screening in 2007: What Should I Offer to My Patients?, Lake Forest Outpatient and Acute Care Center, Grand Rounds, Grayslake, IL, 8/10/2007
37. Personalized Medicine in Pediatrics, Young Presidents Organization, Children’s Hospital of Wisconsin, Milwaukee, WI, 10/2/2007
38. Personalized Medicine, Primary Care Conference, St. Mary's Hospital, Madison, WI, 10/3/2007
39. Etiology of Proteus Syndrome, CRI Noon Academic Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 10/5/2007
40. Etiology of Proteus Syndrome, Human Molecular Genetics Center Seminar Series, Medical College of Wisconsin, Milwaukee, WI, 1/17/2008
41. Personalized Medicine and Pharmacogenetics, Cardiac Research Focus Group Meeting, Children’s Hospital of Wisconsin, Milwaukee, WI, 2/12/2008
42. Genetic Screening in 2008: What Should I Offer to My Patients?, Practices in Pediatrics Conference, Wisconsin Dells, WI, 3/7/2008
43. Personalized Medicine, Medical-Surgical Conference, Beloit Memorial Hospital, Beloit, WI, 4/16/2008
44. Pre-Implantation Genetic Diagnosis (PGD) 2008: What’s New, Children’s Hospital of Wisconsin Pediatrics Grand Rounds, Milwaukee, WI, 8/22/2008
45. Genetic Screening in 2008: What Should I Offer to My Patients?, Children’s Hospital of Wisconsin Fox Valley, Grand Rounds, 9/10/2008
46. Personalized Medicine, Case Management Society of America 8th Annual CMSA Conference, Waukesha, WI, 9/24/2008
47. Testing for Copy Number Changes Using the Affymetrix 6.0 Array in Patients with Neurodevelopmental Disabilities and Dysmorphology, Medical College of Wisconsin, Human Molecular Genetics Center, Milwaukee, WI, 12/18/2008
48. Genetic Disorders with Orthopaedic Manifestations, MCW Basic Science Lecture Series, Children’s Hospital of Wisconsin, Milwaukee, WI, 3/18/2009
49. Genetic Screening in 2009: What Should I Offer to My Patients?, Waukesha Memorial Hospital All-Staff Conference, Waukesha, WI, 8/4/2009
50. Use of Affymetrix DNA Microarray in the Genetic Clinic, Wisconsin Genetics Exchange, Children’s Hospital of Wisconsin, Milwaukee, WI, 10/9/2009
51. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the clinic, Human and Molecular Genetics Center Lecture, Medical College of Wisconsin, Milwaukee, WI, 11/19/2009
52. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the clinic, NICU CME Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 1/5/2010
53. Preimplantation Genetic Diagnosis, MCW Technology Innovation Council, Medical College of Wisconsin, Milwaukee, WI, 1/19/2010
54. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the Clinic, Pediatrics Academic Noon Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 3/19/2010
55. Genetic Screening 2010: What should I offer to my patients?, Resident Noon Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 4/20/2010
56. Use of Affymetric Genome-Wide Human SNP Array 6.0 in clinical neurological care, Neurology Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 5/21/2010
57. Whole Genome Sequencing in the Diagnosis of Mendelian Genetic Disorders, CAP-Illumina Meeting, Boston, MA, 10/19/2010
58. Genetic Screening: What Should I Offer to My Patients?, Annual Ethics Week Lecture Series, United Healthcare System, Kenosha Medical Center, Kenosha, WI, 10/27/2010
59. Practical Pediatrics Webcast: Genetic Screening: What Should I Offer to My Patients?, Children’s Hospital of Wisconsin Internet, Milwaukee, WI, 4/18/2011
60. Whole Genome Sequencing: Helping Children Today, Annual Spring Estate Planning Seminar IX for Professionals, Children’s Hospital of Wisconsin, Milwaukee, WI, 5/17/2011
61. Whole Genome Sequencing: Helping Children Today, Annual Joint CHHSF Planned Giving Council, Milwaukee, WI, 6/21/2011
62. MCW/CHW Whole Genome Sequencing Program, Genomic Medicine Institute's Colloquium Clinical Implementation of Genomic Discoveries, Chicago, IL, 6/29/2011
63. Whole Genome Sequencing: Helping Children Today, Annual Women's Seminar, Wisconsin Club, Milwaukee, WI, 10/18/2011
64. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Ithaca, NY, 7/29/2011
65. Whole Genome Sequencing: Helping Children Today, Children's Hospital and Health System Foundation, Bluemound Country Club, Wauwatosa, WI, 10/19/2011
66. Whole Genome Sequencing: Moving a research technique into the clinic, Children’s Research Institute Research Conference, Milwaukee, WI, 10/20/2011
67. Whole Genome Sequencing: Helping Children Today, Annual Women's Seminar, Westmoor Country Club, Brookfield, WI, 10/25/2011
68. Clinical Use of Whole Genome and Whole Exome Sequencing, Physician Scientist Pathway Course, Medical College of Wisconsin, Milwaukee, WI, 11/17/2011
69. Clinical Use of Whole Genome and Whole Exome Sequencing Today, College of American Pathologists Personalized Health Care, Webinar Series, 12/14/2011
70. Genetic Screening: What Should I Offer to My Patients?, CHW Resident Noon Conference, Milwaukee, WI, 1/4/2012
71. Whole Genome Sequencing: Moving a research technique into the clinic, MCW Medical Scientist Training Program, Milwaukee, WI, 2/9/2012
72. Impact of NGS on Clinical Genetics, ACMG CME Short Course: Next generation sequencing: Clinical utility, laboratory implementation and bioinformatics analysis, American College of Medical Genetics and Genomics 2012 Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012
73. Effective communication of whole genome sequencing results, ACMG CME Short Course: Next generation sequencing: Clinical utility, laboratory implementation and bioinformatics analysis, American College of Medical Genetics and Genomics 2012 Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012
74. Whole Genome Sequencing: Helping Children Today, Children's Hospital and Health System Foundation, St. John’s on the Lake, Milwaukee, WI, 4/20/2012
75. Whole Genome Sequencing in Clinical Practice Today, Genomic and Personalized Medicine Forum, Duke Institute for Genome Sciences & Policy, Duke University Health Systems, Durham, NC, 5/17/2012
76. Whole Genome Sequencing: Helping Children Today, Greater Milwaukee Foundation Donor Breakfast, Milwaukee, WI, 7/20/2012
77. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Ithaca, NY, 7/27/2012
78. Online Resources for Genetics, MCW and China Medical Association Intensive Developmental and Behavioral pediatrics Training for Chinese Pediatricians, Medical College of Wisconsin, Milwaukee, WI, 9/10/2012
79. Informatics in Next - Generation Sequencing: NGS Will Change the Practice of Medicine, Centers for Disease Control and Prevention Conference, Nex-StoCT II, Atlanta, GA, 10/11/2012
80. Whole Genome and Whole Exome Sequencing in the Clinic, Association for Molecular Pathology Annual Meeting, Genomic Medicine 2012, Long Beach, CA, 10/26/2012
81. Whole Genome Sequencing in Clinical Practice, Emory University School of Medicine Grand Rounds, Atlanta, GA, 11/12/2012
82. Current State of Practice: Whole Genome Sequencing in Clinical Use Today, Clinical & Translational Science Institute Conference: Genomic & Personalized Medicine: Analysis and Clinical Implementation, Marquette University Alumni Memorial Union, Milwaukee, WI, 12/17/2012
83. Genome Sequencing in Clinical Practice, Children's Research Institute Noon Conference, Medical College of Wisconsin, Milwaukee, WI, 1/11/2013
84. Genetic Testing in 2013, MCW Billing & Collections Team Meeting American Academy of Professional Coders (AAPC) CEU Lecture, Milwaukee, WI, 2/13/2013
85. Genetic Testing 2013 and Beyond, Best Practices in Pediatrics, Winter 2013 CME Conference, Wisconsin Dells, WI, 3/9/2013
86. Developing a clinical and laboratory genomic medicine program, Invited Lecturer, Cincinnati Children's Medical Center, Cincinnati, OH, 4/9/2013
87. Kabuki Syndrome and Histone deacetylase inhibitors, Kabuki Karnival - Kabuki Parent Support Group Meeting, Mukwonago, WI, 7/13/2013
88. MCW/CHW clinical and laboratory genomic medicine program – a progress report, Human and Molecular Genetics Center Lectures Series, Medical College of Wisconsin, Milwaukee, WI, 7/18/2013
89. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Cornell University, Ithaca, NY, 7/25/2013
90. Infantile Myofibroomatosis, Tumor Board, Medical College of Wisconsin, Milwaukee, WI, 10/17/2013
91. Whole Genome Sequencing in Children: Ready for Prime Time, American Academy of Pediatrics 2013, Meet-the-Expert Discussion, Orlando, FL, 10/26/2013
92. Whole Genome Sequencing in Children: Ready for Prime Time, American Academy of Pediatrics 2013, Meet-the-Expert Discussion, Orlando, FL, 10/27/2013
93. Using Genomic Sequencing in Clinical Practice Today, Prevention Genetics Seminar Series, Marshfield, WI, 11/14/2013
94. When to Order an Exome (Versus Other Genetic Tests) and Variant Interpretation in the Context of WES vs. Single Genes and Panels, American College of Medical Genetics Annual Meeting, Short Course, Salt Lake City, UT, 3/24/2015
95. How should physicians integrate the new variant classification guidelines into clinical care?, American College of Medical Genetics Annual Meeting, Nashville, TN, 3/25/2014 - 3/29/2014
96. Genomic Sequencing in Clinical Practice, Department of Ophthalmology Grand Rounds, Medical College of Wisconsin, Milwaukee, WI, 4/2/2014
97. Genetics 101: Fundamental Principles and Prenatal Genetics for the Pediatrician, Noon Conference for Hospitalist Program, Medical College of Wisconsin, Milwaukee, WI, 5/20/2014
98. Using Genomic Sequencing in Clinical Practice Today, Laboratory Lecture, Children's Hospital of Wisconsin, Milwaukee, WI, 6/12/2014
99. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Cornell University, Ithaca, New York, 7/25/2014
100. Developing a Clinical and Laboratory Genomic Medicine Program, Nationwide Children's Hospital, Columbus, OH, 10/31/2014
101. Genetic Testing in the Era of Next Generation Sequencing, Children's Community Health Plan, West Allis, WI, 2/27/2015
102. Overview of NGS: A Comparison of WGS/WES Versus Microarray Testing in the Evaluation of Intellectual Disability, Autism and/or Multiple Congenital Anomalies, American College of Medical Genetics Annual Meeting. Satellite Symposium, Salt Lake City, UT, 3/25/2015
103. Developing a Clinical and Laboratory Genomic Medicine Program, University of Alabama, School of Medicine, Birmingham, AL, 4/20/2015
104. HudsonAlpha Genomic Medicine Program, HudsonAlpha Institute for Biotechnology, Huntsville, AL, 9/21/2015
105. HudsonAlpha Genomic Medicine Program, Osher Lifelong Learning Institute at University of Alabama, Huntsville, AL, 2/1/2016
106. Translating Genes Into Health, American College of Medical Genetics and Genomics (ACMG) Short Course: Annual Clinical Genetics Meeting 2016, Tampa, FL, 4/8/2016
107. Fox Army Health Center Lunch and Learn, Whole Genome Sequencing for Rare Undiagnosed or Misdiagnosed Disease, Fox Army Health Center (FAHC), Redstone Arsenal, AL, 4/28/2016
108. Medical Group Management Association, Genetics and Genomics in Healthcare: How can it Help Families Today? Montgomery, AL, 7/12/2016
109. Whole Genome Sequencing – It’s Time Has Arrived, Southeastern Regional Genetics Group, Ponte Vedra Beach, FL 7/16/2016
110. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics Course, Cornell University, Ithaca, NY, 7/29/2016
111. HudsonAlpha Genomic Medicine Conference, HudsonAlpha Institute for Biotechnology, Spectrum of Genomic Knowledge, Huntsville, AL, 8/8/2016
112. HudsonAlpha Genomic Medicine Conference, HudsonAlpha Institute for Biotechnology, Genomics & Your Practice, Huntsville, AL, 8/9/2016
113. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology, Merrill Lynch, Fort Payne, AL, 9/7/2016
114. Genomics in Clinical Practice, Grand Rounds – Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, 1/20/2017
115. Genomics in Clinical Practice, Huntsville Hospital Health System Anesthesia Conference, Huntsville, AL, 2/12/2017
116. Genetics, Genomics and Cardiology, 2017 Cardiology Update, Huntsville Hospital Foundation, UAH College of Nursing, Huntsville, AL, 2/25/2017
117. Whole Genome Sequencing for Healthy Individuals in Clinical Practice: The HudsonAlpha Experience, Annual Clinical Genetics Meeting 2017, Phoenix, AZ, 3/22/2017
118. Whole Genome Sequencing, BIOMG 2800 Genetics and Genomics, Cornell University, Ithaca, NY, 7/28/2017
119. Genomics in Clinical Practice, Hayward Center Genetics Seminar, Tulane University Medical Center, New Orleans, LA, 5/5/2017
120. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology, LearningQuest, Huntsville, AL 8/30/17
121. Genomic Medicine for Non-Clinicians, American Academy of Pediatrics Practice Managers, Birmingham, AL, 9/29/17
122. Genetics, Genomics, and Pediatric Disease, American Academy of Pediatrics Alabama Chapter Fall Pediatrics Update, Birmingham, AL, 9/30/17
123. Genomic Medicine at HudsonAlpha Institute for Biotechnology, Osher Lifelong Learning Institute at University of Alabama, Huntsville, AL, 10/2/2017
124. Using genomics in clinical practice: diagnostic genomes & elective genomes, Festival of Genomics, Boston, MA, 10/4/2017
125. Consumer Genomics: Direct or Indirect, Does it Really Matter? Individualized Medicine Conference, Rochester, MN 10/9/2017
126. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology, LearningQuest, Huntsville, AL 3/1/18
127. How Genetic Risk Profile Can Change Healthcare, Genomic Medicine Conference, HudsonAlpha Institute for Biotechnology, Huntsville, AL 3/26/2018
128. Performance of Whole Genome Sequencing vs Whole Exome Sequencing, Satellite Symposia, ACMG Annual Clinical Genetics Meeting, Charlotte, NC, 4/10/2018
129. Genomic Medicine and the Smith Family Clinic, BioTrain Interns, HudsonAlpha Institute for Biotechnology, Huntsville, AL, 5/31/2018
130. Performance of Whole Genome Sequencing vs Whole Exome Sequencing, SERGG Annual Meeting, Asheville, NC, 7/21/2018
131. Whole Genome Sequencing, BIOMG 2800 Lectures in Genetics and Genomics, Cornell University, Ithaca, NY, 7/27/2018
132. Genomics in Clinical Practice, Southern Regional Conference for Learning in Retirement, The University of Alabama in Huntsville, 8/2/2018
133. Using Diagnostic and Elective Genomes in the Clinic, AGBT Precision Health Meeting, La Jolla, CA, 9/7/2018
134. Elective Genomic Testing: Comparing Apples and Oranges, Mayo Clinic Individualizing Medicine Conference, Rochester, MN, 9/12/2018
135. How Genomics Can Help Identify Undiagnosed and Misdiagnosed Diseases, Concierge Medicine Forum, Atlanta, GA, 10/26/2018-10/27/2018
136. Performance of Whole Genome Sequencing Versus Whole Exome Sequencing, Seattle Children’s Hospital Webinar, Seattle WA, 10/30/2018
137. Do-It-Yourself DNA: What the Average Person Should Know About At-Home Genetic Testing, HudsonAlpha Institute for Biotechnology, Huntsville, AL, 2/8/2018
138. Smith Family Clinic for Genomic Medicine, Athens Rotary Club, Athens, AL, 3/29/19 139. Whole genome sequencing is ready for the clinic: A comparison of genome and exome sequencing.
Alberta Precision Health for Rare Disease Summit “The Future is Here”, Alberta, Canada, 5/3/19 140. The Great Genome Debate: Are we ready for prime time? PLUGS Summit 2019, Seattle, WA,
6/14/19 141. Genomics: today and tomorrow, Professional Advisors Council, HudsonAlpha Institute for
Biotechnology, Huntsville, Alabama, 8/22/19
142. Future of Genetics in the Research Lab and the Clinic, Men’s Health Forum, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, 8/12/19
143. Utility of Genomic Testing in Autism Spectrum Disorder, Synchrony 2019 International Symposium on Translational Research in Autism, The Brain Foundation, Pleasanton, California, 11/8/19
International 1. Genetic Screening and Testing, Editor’s Choice Conference, Rzeszow, Poland, 6/13/2008
2. Ambiguous Genitalia (Disorders of Sex Development), Editor’s Choice Conference, Rzeszow, Poland, 6/14/2008
3. Using Whole Genome Sequencing in Clinical Practice, Invited Lecture, Welcome Trust Center for Human Genetics, Oxford University, Oxford, United Kingdom, 10/10/2011
4. Using Genomic Sequencing in Clinical Practice Today, University of Oxford, Oxford Biomedical Research Centre, Oxford, UK, 6/26/2014
PEER REVIEWED WORKSHOPS/PRESENTATIONS: 1. Preimplantation Genetic Diagnosis, Pediatric Grand Rounds, Children’s Hospital of Wisconsin,
Milwaukee, WI, 3/1/2002 2. Preimplantation Genetic Diagnosis, Grand Rounds, Department of Obstetrics and Gynecology, Medical
College of Wisconsin, Milwaukee, WI, 5/8/2002 3. Genes and Neurodevelopmental Disabilities, Pediatric Grand Rounds, Children’s Hospital of
Wisconsin, Milwaukee, WI, 6/6/2003 4. Personalized Medicine, Pediatric Grand Rounds, Children’s Hospital of Wisconsin, Milwaukee, WI,
7/30/2004 5. Updates in Prenatal Genetics, Resident Noon Conference, Children’s Hospital of Wisconsin,
Milwaukee, WI, 2/18/2005 6. Skeletal Dysplasia, Orthopedic Resident Noon Conference, Children’s Hospital of Wisconsin,
Milwaukee, WI, 3/16/2005 7. Indications for Preimplantation Genetic Diagnosis (PGD), Grand Rounds, Department of Obstetrics and
Gynecology, Medical College of Wisconsin, Milwaukee, WI, 3/30/2005 8. Preimplantation Genetic Diagnosis in 2006, Pediatric Grand Rounds, Children’s Hospital of Wisconsin,
Milwaukee, WI, 1/20/2006 9. Cardiology and Genetics, Cardiology Fellow Grand Rounds, Froedtert Memorial Lutheran Hospital,
Milwaukee, WI, 4/13/2006 10. Prenatal Genetics for the Pediatrician, Noon Conferences for Pediatric Residents, Children’s Hospital of
Wisconsin, Milwaukee, WI, 4/13/2006 11. Clinical use of DNA Microarray to Diagnose Patients with Birth Defects and Neurodevelopmental
Disorders, Grand Rounds, Children’s Hospital of Wisconsin, Milwaukee, WI, 1/29/2010 12. Whole Genome Sequencing: Moving a Research Technique to the Clinic, CRI Research Conference,
Children's Hospital of Wisconsin, Milwaukee, WI, 10/20/2011
National 1. Whole Genome and Whole Exome Sequencing in the Clinic, Association for Molecular Pathology,
Plenary Session, Long Beach, CA, 10/25/2012 - 10/27/2012 2. Challenges and Accomplishments of Exome and Genome Sequencing, American College of Medical
Genetics 2013 Annual Meeting, Phoenix, AZ, 3/23/2013 3. Medical College of Wisconsin Experience: Reimbursement Successes and Failures in "In House" WES/
WGS, American College of Medical Genetics 2013 Annual Meeting, Phoenix, AZ, 3/23/2013
COMMITTEE SERVICE:
Medical College 7/2002-12/2006 Member, General Clinical Research Center Committee, Medical College of Wisconsin
5/2006-9/2006 Member, Curriculum and Evaluation Committee, Genetics Education Subcommittee, Medical College of Wisconsin
12/2006-12/2008 Project Leader, Joint Effort of Children’s Hospital of Wisconsin, Pharmacogenetics and Genomic Medicine Initiative, Department of Pediatrics and the Children’s Research Center, Medical College of Wisconsin
7/2008-6/2011 Member, Library Committee, Medical College of Wisconsin
MCW STUDENTS, FACULTY, RESIDENTS AND CLINICAL/RESEARCH FELLOWS MENTORED:
Medical Students Brook Daniels, Medical College of Wisconsin, 2007-2008 Medical Student Advisor Ayuko Iverson, Medical College of Wisconsin, 2011-Present Advisor
Graduate Students PhD Committees Kelly Duffy, Medical College of Wisconsin, 2006-2007 PhD Thesis Committee
MS Committees Elad Amir , Medical College of Wisconsin, 2007-2008 Masters Thesis Committee Navin Kumar, Medical College of Wisconsin, 2009-2011 Scholarship Oversight Committee Daniel Helbling, Medical College of Wisconsin, 2010-2013 Masters Thesis Committee
GRANTS:
7/1978-Present National Foundation March of Dimes Summer Science Research Grant Program for Medical Students
9/1988-8/1989 University of Texas Health Science Center at San Antonio Institutional Research Grant: “Physical mapping of the X-linked Kallmann syndrome locus.”
7/1993-7/1994 Institute of Research and Education INOVA Health System: “Molecular Analysis of Colorectal Cancer Susceptibility Gene in Patients with Colorectal Polyps and Cancer.” $9,500
BIBLIOGRAPHY
Refereed Journal Publications/Original Papers
1. Mahoney, M.J. and BICK, D.P. Recent advances in the inherited methylmalonic acidemias. (1987). Acta Paediatr Scand 76:689-696. PMID: 2889315.
2. BICK, D.P., Balkite, E.A., Baumgarten, A., Hobbins, J.C., and Mahoney, M.J.: The association of congenital skin disorders with acetylcholinesterase in amniotic fluid. (1987). Prenat Diagn 7:543-549. PMID: 2446309.
3. BICK, D.P., Markowitz, R., and Horwich, A. Trisomy 18 associated with ectopia cordis and occipital meningocele. (1988). Am J Med Genet 30:805-810. PMID: 3189399.
4. BICK, D.P., Curry, C.J.R., McGill, J., Schorderet, D.F., Bux, R.C., and Moore, C.M. A male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata and an Xp chromosome deletion. (1989). Am J Med Genet 33:100-107. PMID: 2750777.
5. Schwanzel-Fukuda, M., BICK, D.P., and Pfaff, D.W. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (1989). Mol Brain Research 6:311-326. PMID: 2687610.
6. Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., BICK, D.P., Campbell, L., Hamel, B., Ferguson-Smith, M.A., Gimelli, G., Fraccaro, M., Maraschio, P., Zuffardi, O., Guioli, S., and Camerino, G. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. (1989). Proc Natl Acad Sci 86:10001-10005. PMCID: PMC298630.
7. Swaroop, A., Agarwal, N., Gruen, J.R., BICK, D.P., and Weissman, S.M. Differential Expression of Novel Gsα Signal Transduction Protein cDNA Species. (1991). Nucleic Acids Res 19:4725-4729. PMCID: PMC328715.
8. BICK, D.P., Schorderet al, D.F., Price, P.A., Campbell, L., Huff, R.W., Shapiro, L.J., and Moore, C.M. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1992). Prenat Diagn 12:19-29. PMID: 1557308.
9. BICK, D.P., Franco, B., Sherins, R.J., Heye, B., Pike, L., Crawford J., Maddalena, A., Incerti, B., Pragliola, A., Mettinger, T., and Ballabio, A. Brief Report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. (1992). N Eng J Med 326:1752-1755. PMID: 1594017.
10. Maddalena, A., BICK, D.P., and Schulman, J.D. Molecular diagnosis of genetic disease. (1992). J Reprod Med 37:437-444. PMID: 1507192.
11. Schnur, R.E., Wick, P.A., Sosnoski, D.N., Ballabio, A., BICK, D.P., and Nussbaum, R.L. Deletion mapping and a highly reduced radiation hybrid in the Xp22.2-p22.3 region. (1993). Genomics 15:500-506. PMID: 8468044.
12. Buehler, B.A., BICK, D.P., Delimont, D. Letter to the Editor: Prenatal prediction of risk of the fetal hydantoin syndrome. (1993). N Eng J Med 322:1660-1661. PMID: 8232451.
13. Heuertz, S., Nelen, M., Wilkie, A.O.M., Le Merrer, M., Del Rieu, O., Larget-Piet, L., Tranebjaerg, L., BICK, D.P., Hamel, B., van Oost, B.A., Maroteaux, P., and Hors-Cayla, M.C. The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. (1993). Genomics 18:100-104. PMID: 7903956.
14. BICK, D.P. and Ballabio, A. Commentary: Bringing Kallmann Syndrome into focus. Am J of Neurorad (1993). 14:852-854. PMID: 8352156.
15. Black, S.H., BICK, D.P., Maddalena, A., Schulman, J.D., and Jones, S. Letter to the Editor: Pregnancy screening for cystic fibrosis. (1993). Lancet 30:342. PMID: 8105330.
16. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black, S.H., and Schulman, J.D. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction. (1994). Am J Med Genet 51:527-534. PMID: 7943035.
17. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Molecular analysis of the Rh locus in a person with the Du phenotype. (1994). Transfusion 34:741-742. PMID: 8073496.
18. Howard-Peebles, P.N., Maddalena, A., Spence, W.C., Levinson, G., Fallon, L., BICK, D.P., Black, S.H., Schulman, J.D. Fragile X screening: what is the real issue? (1994). Am J Med Genet 53:382. PMID: 7864051.
19. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Molecular analysis of the RhD genotype in fetuses at risk for RhD hemolytic disease. (1995). Obstet Gynecol 296-298. PMID: 7824249.
20. Levinson, G., Keyvanfar, K., Wu, J.C., Fugger, E.F., Fields, R.A., Harton, G.L., Palmer, F.T., Sisson, M.E., Starr, K.M., Dennison-Lagos, L., Calvo, L., Sherins, R.J., BICK, D.P., Schulman, J.D., and Black, S.H. DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. (1995). Human Mol Reprod 1:979-982. PMID: 7650159.
21. Spence, W.C., Potter, P., Maddalena, A., Demers, D.B., and BICK, D.P. DNA-based prenatal determination of the RhE genotype. (1995). Obstet Gynecol 21:670-672. PMID: 7675408.
22. Howard-Peebles, P.N., Maddalena, A., Black, S.H., Levinson, G., BICK, D.P., and Schulman, J.D. Fragile X screening in pediatric & obstetrical patients. (1995). Dev Brain Dysfunct 8:408-410.
23. BICK, D.P. Genetic disease diagnosis: Challenges and opportunities. (1995). IEEE Engineering in Medicine and Biology Magazine 14(2):226-228.
24. Spence, W.C., Black, S.H., Fallon, L., Maddalena, A., Cummings, E., Menapace-Drew, G., BICK, D.P., Levinson, G., Schulman, J.D., and Howard-Peebles, P.N. Molecular fragile X screening in normal populations. (1996). Am J Med Genet 64:181-183. PMID: 8826471.
25. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Prenatal determination of genotypes Kell and Cellano in at-risk pregnancies. (1997). J Reprod Med 42:353-357. PMID: 9219123.
26. Layman, L.C., Cohen, D.P., Jin, M., Xie, J., Li, Z., Reindollar, R.H., Bolbolan, S., BICK, D.P., Sherins, R.J., Duck, L.W., Musgrove, L.C., Sellers, J.C., and Neill, J.D. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. (1998). Nat Genet 18:14-15. PMID: 9425890.
27. BICK, D.P., Fugger, E.F., Pool, S., Hazelrigg, W.B., Yadvish, K.N., and Spence, W.C., Maddalena, A., Howard-Peebles, P.N., Schulman, J.D. Semen donor screening for hereditary diseases: The Fairfax Cryobank Experience. J(1998). Reprod Med 43:423-428. PMID: 9610465.
28. Stavropoulos, D.J., BICK, D.P., and Kalousek, D.K. Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. (1998). Am J Hum Genet 63:1912-1914. PMCID: PMC1377663.
29. BICK, D.P., McCorkle, D., Stanley, W.S., Stern, H.J., Staszak, P., Berkovitz, G.D., Meyers, C.M., and Kelley, R.I. Short Communication: Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. (1999). Prenat Diagn 19:68-71. PMID: 10073912.
30. Fallon, L., Harton, G.L., Sisson, M.E., Rodriguez, E., Field, L.K., Fugger, E.F., Geltinger, M., Sun, Y., Dorfmann, A., Schoener, C., BICK, D.P., Schulman, J., Levinson, G., and Black, S.H. Preimplantation genetic diagnosis for spinal muscular atrophy type I. (1999). Neurology 53:1087-1090. PMID: 10496271.
31. Taylor, H.S., Block, K., BICK, D.P., Sherins, R.J., and Layman, L.C. Mutation analysis of the EMX2 gene in Kallmann's syndrome. (1999). Fertil Steril. 72:910-914. PMID: 10560999.
32. Achermann, J.C., Gu, W-X., Kotlar, T.J., Meeks, J.J., Sabacan, L.P., Seminara, S.B., Habiby, R.L., Hindmarsh, P.C., BICK, D.P., Sherins, R.J., Crowley Jr., W.F., Layman, L.C., and Jameson, J.L.
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. (1999). J Clin Endocrinol Metab 84:4497-4500. PMID: 10599708.
33. Park J.K., Ozata M., Chorich L.P., Cheng L., BICK, D.P., Sherins R.J., Ozdemir I.C., Cogan J, Phillips J.A. III, and Layman L.C. Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism. Clin Endocrinol (Oxf) 60(1):147-149, 2004. PMID 14678304.
34. Klein, O.D., Cotter, P.D., Schmidt, A.M., BICK, D.P, Tidyma, W.I., Albertson, D.G., Pinkel, D., and Rauen, K.A. Interstitial deletion of chromosome 12q: Genotype-Phenotype correlation of two patients utilizing array comparative genomic hybridization. (2005). Am J Med Genet 138(4):349-354. PMID: 16200635.
35. Bhagavath, B., Ozata, M., Ozdemir, I.C., Bolu, E., BICK, D.P., Sherins, R.J., and Layman, L.C. The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. (2005). Fertil Steril. 84(4):951-957. PMID: 16213849.
36. BICK, D.P. and Lau, E.C. Preimplantation genetic diagnosis. (2006). Pediatr ClinSounds North Am. 53(4):559-577. PMID: 16872993.
37. Bhagavath, B., Podolsky, R.H., Ozata, M., Bolu, E., BICK, D.P., Kulharya, A., Sherins, R.J., and Layman, L.C. Clinical and molecular characterization of a large sample of patients with hypogonadotrophic hypogonadism. (2006). Fertil Steril. 85(3):706-713. PMID: 16500342.
38. Johnston, J.J., Walker, R.L., Davis, S., Facio, F., Turner, J.T., BICK, D.P., Daentl, D.L., Ellison, J.W., Meltzer, P.S., and Biesecker, L.G. Zoom-in CGH arrays for the characterization of variable breakpoint contiguous gene syndromes. (2007). J Med Genet. 44(1): e59. PMCID: PMC2597909.
39. Bhagavath, B., Xu, N., Ozata, M., Rosenfield, R.L., BICK, D.P., Sherins, R.J., and Layman, L.C. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. (2007). Mol Hum Reprod. 13(3):165-170. PMID: 17213338.
40. Swanson, A., Strawn, E., Lau, E., and BICK, D.P. Preimplantation genetic diagnosis: technology and clinical applications. (2007). Wis Med J. 106(3):145-151. PMID: 17642353.
41. Pedersen-White, J.R., Chorich, L.P., BICK, D.P., Sherins, R.J., and Layman, L.C. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann Syndrome. (20058). Mol Hum Reprod. 14(6):367-370. PMCID: PMC2434956.
42. Bick, S.L., BICK, D.P., Wells, B.E., Roesler M.R., Strawn, E.Y., and Lau, E.C. Preimplantation HLA haplotyping using tri-, tetra-, and pentanucleotide short tandem repeats for HLA matching. (2008). J Assist Reprod Genet. 25(7):323-331. PMCID: PMC2596682.
43. Kim, H.G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S.H., Kang, G.B., Rosenberger, G., Tekin, M., Metin, O., BICK, D.P., Sherins, R., Walker, S., Shi, Y., Gusella, J., and Layman, L.C. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2008). Am J of Hum Genet. 83(4):511-519. PMCID: PMC2561938.
44. Samyn, M.M., BICK, D.P., Humphrey, J.A., and Gandy, K.L. Successful congenital heart surgery for a toddler with idiopathic infantile arterial calcification. (2010). Pediatr. Cardiol. 31:1096-1099. PMID: 20552183.
45. Strawn, E.Y. Jr, BICK, D.P., and Swanson, A. Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions. (2010). Fertil Steril. 94(2):754.e1-2. PMID: 20338562.
46. Lau, E.C., Janson, M.M., Roesler, M.R., Avner, E. D., Strawn, E.Y., and BICK, D.P. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. (2010). J Ass Repro Gen. 27:397-407. PMCID: PMC2922704.
47. Kim, H.G., Ahn, J.W., Kurth, I., Ullmann, R., Kim, H.T., Kulharya, A., Ha, K.S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., BICK, D.P., Sherins, R.J., Nagase, T., Tekin, M., Kim, S.H., Kim, C.H., Ropers, H.H., Gusella, J.F., Kalscheuer, V., Choi, C.Y., and Layman,
L.C. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (2010). Am J Hum Genet. 87(4):465-479. PMCID: PMC2948809.
48. Xu, N., Kim, H., Bhagavath, B., Cho, S., Lee, J.H., Ha, K., Meliciani, I., Wenzel, W., Podolsky, R.S., Chorich, L.P., Stackhouse, K.A., Grove, A.M.H., Odom, L.N., Ozata, M., BICK, D.P., Sherins, R.J., Kim, S., Cameron, R.S., and Layman, L.C. Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic Hypogonadism and Kallmann syndrome. (2011). Fertil Steril, 95(5):1613-1620. PMCID: PMC3888818.
49. Lindhurst, M.J., Sapp, J.C., Teer, J.K., Johnston, J.J., Finn, E.M., Peters, K., Turner, J., Cannons, J.L., BICK, D.P., Blakemore, L., Blumhorst, C., Brockmann, K., Calder, P., Cherman, N., Deardorff, M.A., Everman, D.B., Golas, G., Greenstein, R.M., Kato, B.M., Keppler-Noreuil, K.M., Kuznetsov, S.A., Miyamoto, R.T., Newman, K., Ng, D., O'Brien, K., Rothenberg, S., Schwartzentruber, D.J., Singhal, V., Tirabosco, R., Upton, J., Wientroub, S., Zackai, E.H., Hoag, K., Whitewood-Neal, T., Robey, P.G., Schwartzberg, P.L., Darling, T.N., Tosi, L.L., Mullikin, J.C., and Biesecker, L.G. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. (2011). N Engl J Med, 365(7):611-619. PMCID: PMC3170413.
50. Mayer, A.N., Dimmock, D.P., Arca, M.J., BICK, D.P., Verbsky, J.W., Worthey, E.A., Jacob, H.J., and Margolis, D.A. A timely arrival for genomic medicine. (2011). Gen Med, 13:195-196. PMID: 21169843.
51. Worthey, E.A., Mayer, A.N., Syverson, G.D., Helbling, D., Bonacci, B.B., Decker, B., Serpe, J.M., Dasu, T., Tschannen, M.R., Veith, R.L., Basehore, M.J., Broeckel, U., Tomita-Mitchell, A., Arca, M.J., Casper, J.T., Margolis, D.A., BICK, D.P., Hessner, M.J., Routes, J.M., Verbsky, J.W., Jacob, H.J., and Dimmock, D.P. Making a definitive diagnosis: successful clinical application of whole genome sequencing in a child with intractable inflammatory bowel disease. (2011). Gen Med. 13:255-262. PMID: 21173700.
52. BICK, D.P. and Dimmock, D. Whole exome and whole genome sequencing. (2011). Curr Opin Pediatr, 23(6):594-600. PMID: 21881504.
53. Gargis, A.S., Kalman, L., Berry, M.W., BICK, D.P., Dimmock, D.P., Hambuch, T., Lu, F., Lyon, E., Voelkerding, K.V., Zehnbauer, B.A., et al. Assuring the quality of next-generation sequencing in clinical laboratory practice. (2012). Nature Biotechnology 30, 1033–1036. PMCID: PMC3827024.
54. Mahoney, M.J. and BICK, D.P. Recent advances in the inherited methylmalonic acidemias. (1987). Acta Paediatr Scand. 76:689-696. PMID: 2889315.
55. Quaynor, S.D., Kim, H.G., Cappello, E.M., Williams, T., Chorich, L.P., BICK, D.P., Sherins, R.J., and Layman, L.C. The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (2011). Fertil Steril. 96(6):1424-1430. PMCID: PMC3573697.
56. Kumar, N., Leverence, J., BICK, D.P., and Sampath, V. Ontogeny of growth-regulating genes in the placenta. )20112). Placenta. 33(2):94-99. PMID: 22154689.
57. Tomita-Mitchell, A., Mahnke, D.K., Struble, C.A., Tuffnell, M.E., Stamm, K.D., Hidestrand, M., Harris, S.E., Goetsch, M.A., Simpson, P.M., BICK, D.P., Broeckel, U., Pelech, A.N., Tweddell, J.S., and Mitchell, M.E. Human gene copy number spectra analysis in congenital heart malformations. (2012). Physiol Genomics 44(9):518-541. PMCID: PMC3426426.
58. Lemke, A., BICK, D.P., Simpson, P., and Veith, R. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study. (2012). Clin Genet. PMCID: PMC3888159.
59. Manolio, T.A., Chisholm, R.L., Ozenberger, B., Roden, D.M., Marc S. Williams, M.S., Wilson, R., BICK, D.P., et al. Implementing genomic medicine in the clinic: the future is here. (2013). Genet Med. (4):258-267. Advance online publication 10 January 2013. doi:10.1038/gim.2012.157. PMCID: PMC3835144.
60. Schiller, J.J., Hopp, K.A., Peitz, B.C., BICK, D.P., Lau, E.C., and Ellis, T.M. A simplified method for screening siblings for HLA identity using short tandem repeat (STR) polymorphims. (2013). Human Immun, 74:5, 562-566. PMID: 23291277.
61. Jacob, H.J., Abrams, K., BICK D.P., Brodie, K., Dimmock, D.P., Farrell, M., Geurts, J., Harris, J., Helbling, D., Joers, B.J., Kliegman, R., Kowalski, G., Lazar, J., Margolis, D.A., North, P., Northup, J., Roquemore-Goins, A., Scharer, G., Shimoyama, M., Strong, K., Taylor, B., Tsaih, S.W., Tschannen, M.R., Veith, R.L., Wendt-Andrae, J., Wilk, B., and Worthey, E.A. Genomics in clinical practice: lessons from the front lines. (2013). Sci Transl Med. 17;5(194):194cm5. PMID: 23863829.
62. Lindhurst, M.J., Wang, J., Bloomhardt, H., Wikowski, A.M. Singh, L.N., BICK, D.P., Gambello, M.J., Powerll, C.M. Chia, C., Lee, R., Darling, T.N., and Besecker, L.G. AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. (2013). J Invest Dermatol. PMCID: PMC3868633.
63. Weh, E., Reis, L.M., Tyler, R.C., BICK, D.P., Rhead, W.J., Wallace, S., McGregor, T.L., Dills, S.K., Chao, M.C., Murray, J.C., and Semina, E.V. Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (2013). Clin Genet. doi: 10.1111/cge.12241. [Epub ahead of print]. PMCID: PMC4103962.
64. Strong, K.A., Derse, A.R., Dimmock, D.P., Zusevics, K.L., Jeruzal, J., Worthey, E., BICK, D.P., Scharer, G., La Pean Kirschner, A., Spellecy, R., Farrell, M.H., Geurts, J., Veith, R., and May, T. In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail. (2014). Am J Bioeth 14(3):24-26. PMID: 24592835.
65. Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., BICK, D.P., and Semina, E.V. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (2014). Clin Genet. 86(5):475-481. doi: 10.1111/cge.12379. Epub 2014 Apr 12. PMCID: PMC4163542.
66. Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V.L., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Martin, N., BICK, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2014). J Clin Invest. pii: 75199. doi: 10.1172/JCI75199. [Epub ahead of print]. PMCID: PMC4347224.
67. Dimmock, D.P. and BICK, D.P., Ethical issues in DNA sequencing in the neonate. (2014). Clin Perinatol, Dec;41(4):993-1000. PMID: 25459786.
68. Strong, K.A., Zusevics1, K.L., BICK, D.P., and Veith, R. Views of Non-Medical, Health System Professionals Regarding the Return of Whole Genome Sequencing Incidental Findings. (2014). Clin Genet, PMID: 24673592.
69. Strong, K.A., Zusevics, K.L., BICK, D.P., and Veith, R. Views of primary care providers regarding the return of genome sequencing incidental findings. (2014). Clin Genet. 86(5):461-468. doi: 10.1111/cge.12390. Epub 2014 May 20. PMID: 24673592.
70. Miller, M.J., Burrage, L.C., Gibson, J.B., Strenk, M.E., Lose, E.J., BICK, D.P., Elsea, S.H., Sutton, V.R., Sun, Q., Graham, B.H., Craigen, W.J., Zhang, V.W., and Wong, L.C. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. (2015). Molecular Genetics and Metabolism. 139-145. PMCID: PMC4790081.
71. Deml, B., Reis, L.M., Muheisen, S., BICK, D.P., and Semina, E.V. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. (2015). Birth Defects
Res A Clin Mol Teratol. 103(7):630-640. doi: 10.1002/bdra.23397. Epub 2015 Jun 27. PMID: 26118977. PMCID: PMC4487781.
72. Gargis, A.S., Kalman, L., BICK, D.P., da Silva, C., Dimmock, D.P., Funke, B.H., Gowrisankar, S., Hegde, M.R., Kulkarni, S., Mason, C.E., Nagarajan, R., Voelkerding, K.V., Worthey, E.A., Aziz, N., Barnes, J., Bennett, S.F., Bisht, H., Church, D.M., Dimitrova, Z., Gargis, S.R., Hafez, N., Hambuch, T., Hyland, F.C., Luna, R.A., MacCannell, D., Mann, T., McCluskey, M.R., McDaniel, T.K., Ganova-Raeva, L.M., Rehm, H.L., Reid, J., Campo, D.S., Resnick, R.B., Ridge, P.G., Salit, M.L., Skums, P., Wong, L.J., Zehnbauer, B.A., Zook, J.M., and Lubin, I.M. Good laboratory practice for clinical next-generation sequencing informatics pipelines. (2015). Nat Biotechnol. 33(7):689-693. doi: 10.1038/nbt.3237. No abstract available. PMID: 26154004.
73. Rojnueangnit, K., Xiem, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M.A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C.P., Crenshaw, M., Bartholomew, D.W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M.G., BICK, D.P., Blumberg, B., Cortes, F., David, K.L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I.M., Frydman, M., Gardner, K., Gripp, K.W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B.A., Llano-Rivas, I., Leppig, K., McDonald, M., Misra, V.K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E.K., Powell, C.M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C.P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I.C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E., and Messiaen, L. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. (2015). Hum Mutat. 36(11):1052-1063. doi:10.1002/humu.22832. PMCID: PMC5049609.
74. Miller, M.J., Burrage, L.C., Gibson, J.B., Strenk, M.E., Lose, E.J., BICK, D.P., Elsea, S.H., Sutton, V.R., Sun, Q., Graham, B.H., Craigen, W.J., Zhang, V.W., and Wong, L.J. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. (2015). Mol Genet Metab. 116(3):139-145. doi:10.1016/j.ymgme. PMCID: PMC4790081.
75. Mele, C., Lemaire, M., Iatropoulos, P., Piras, R., Bresin, E., Bettoni, S., BICK, D.P., Helbling, D., Veith, R., Valoti, E., Donadelli, R., Murer, L., Neunhäuserer, M., Breno, M., Frémeaux-Bacchi, V., Lifton, R., Remuzzi, G., and Noris, M. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. (2015). Clin J Am Soc Nephrol. 10(6):1011-1019. doi:10.2215/CJN.08520814. PMCID: PMC4455211.
76. Richards, S., Aziz, N., Bale, S., BICK, D.P., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., Rehm, H.L., and ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. (2015). Genet Med. 17(5):405-424. doi:10.1038/gim.2015.30. PMCID: PMC4544753.
77. Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari, V.L., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L., Shannon, P., Martin, N., BICK, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A., Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (2015). J Clin Invest. 125(1):456-457. doi:10.1172/JCI80057. PMCID: PMC4382254.
78. Peterson, J.F., BICK, D.P., Geddes, G.C., McCarrier, J., Grignon, J.W. Jr., Chirempes, B., Broeckel, U., Abidi, F., Rogers, R.C., Boccuto, L., DuPont, B., and vanTuinen, P. Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann
syndrome. (2016). Am. J. Med. Genet. A. 170: 3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. No abstract available. PMID: 27549580.
79. BICK, D.P., Fraser, P.C., Gutzeit,, M.F., Harris, J.M., Hambuch, T.M., Helbling, D.C., Jacob, H.J., Kersten, J.N., Leuthner, S.R., May, T., North, P.E., Prisco, S.Z., Schuler, B.A., Shimoyama, M., Strong, K.A., Why, S.K.V., Veith, R., Verbsky, J., Weborg, A.M., Wilk, B., Willoughby, R.E., Worthey, E., and David, A. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. Copyright by Georg Thieme Verlag KG, Stuttgart, New York. J. Pediatr. Genet. DOI http://dx.doi.org/ 10.1055/s-0036-1593968. ISSN 2146-4596. 2016. PMCID: PMC5423809.
80. O’Daniel, J., McLaughlin, H., Amendola, L., Bale, S., Berg, J., BICK, D.P., Bowling, K., Chao, E., Chung, W., Conlin, L., Cooper, G., Das, S., Deignan, J., Dorschner, M., Evans, J., Ghazani, A., Goddard, K., Gornick, M., Farwell Hagman, K., Hambuch, T., Hegde, M., Hindorff, L., Holm, I., Jarvik, G., Knight Johnson, A., Mighion, L., Morra, M,. Plon, S., Punj, S., Richards, C., Santani, A., Shirts, B., Spinner, N., Tang, S., Weck, K., Wolf, S., Yang, Y., and Rehm, H. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. (2017). Genetics in Medicine, vol. 19, issue 5 pp. 575-582. PMCID: PMC5415437.
81. Brar R., Basel, D.G., BICK, D.P., Weik, L., vanTuinen, P., and Peterson, J.F. Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. (2017). J Assoc Genet Technol. 43: 56-58. PMID: 28511170.
82. Peterson, J., Basel, D., BICK, D.P., Chirempes, B., Grignon, J.W., JR. Weik, L., and Kappes, U. A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST gene, and Duplication 3q25.33-q29 in a Female with der (X)t(X;3)(q13.2;q25.33). (2018). J. Pediatr. Genet. (1):23-28. doi: 10.1055/s-0037-1604448. Epub 2017 Jul 26. PMCID: PMC5809172.
83. Liu, N., Schoch, K., Luo., X., Pena, L., Bhavana, V.H., Kukolich, M., Stringer, S., Powis, Z., Radtke, K., Mroske, C., Deak, K., McDonald ,M.T., McConkie-Rosell, A., Markert, M.L., Kranz, P., Stong, N., Need, A.C., BICK, D.P., Amaral, M.D., Worthey, E.A., Levy, S., Undiagnosed Diseases Network (UDN), Wangler, M.F., Bellen, H.J., Shashi, V., and Yamamoto, S. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. (2018). Hum. Mol. Genet. 15:2454-2465. PMCID: PMC6030957.
84. Richards, C.S., Aziz, N., Bale, S., BICK, D.P., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., and Rehm, H.L., on behalf of the ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Response to Biesecker and Harrison. (2018). Genetics in Medicine. doi:10.1038/gim.2018.43. PMID: 29543230.
85. Friederich, M., Timal, S., Powell, C., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D., Derks, T., BICK, D.P., Bouman, K., Chatfield, K., Damouny-Naoum, N., Dishop, M., Falik-Zaccai, T., Fares, F., Fedida, A., Ferrero, I., Gallagher, R., Garesse, R., Gilberti, M., González, C., Gowan, K., Habib, C., Halligan, R., Kalfon, L., Knight, K., Lefeber, D.G., Mamblona, L., Mandel, H., Mory, A., Ottoson, J., Paperna, T., Pruijn, G., Rebelo-Guiomar, P., Saada, A., Sainz Jr., B., Salvemini, H., Schoots, M., Smeitink, J., Szukszto, M., ter Horst, H., van den Brandt, F., van Spronsen, F., Veltman, J., Wartchow, E., Wintjes, L., Zohar, Y., Fernandez-Moreno, M., Baris, H., Donnini, C., Minczuk, M., Rodenburg, R., and Van Hove, J. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. (2018). Nat Commun. 9:4065. DOI: 10.1038/s41467-018-06250-w. PMCID: PMC6170436.
86. Zastrow, B.D., Bonner, D., Kohler, J.N., Reuter, C.M., Fernandez, L., Grove, M.E., Fisk, D.G., Yang, Y., Eng, C.M., Ward, P.A., BICK, D.P., Worthey, E.A., Fisher, P.G., Ashley, E.A., Bernstein, J.A., and Wheeler, M.T. A Toolkit for Genetic Counselors in Clinical Follow-up of Patients with Non-Diagnostic Exome Sequencing. (2018). Journal of Genetic Counseling. In Press.
87. Lu, J.T., Ferber, M., Hagenkord, J., Levin, E., South, S., Kang, H.P., Strong, K.A., and BICK, D.P. Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: 'Elective' Genomic Testing. (2018). J Mol Diagn. 21: 3-12. doi: 10.1016/j.jmoldx.2018.09.006. PMID: 30453057.
88. East, K.M., Cochran, M., Kelley, W.V., Greve, V., Emmerson, K., Raines, G., Cochran, J.N., Hott, A.M., and BICK, D.P. Odyssey versus Curiosity: exploring the needs of diagnostic and elective genomic medicine patients. (2018). Journal of Genetic Counseling. Submitted.
89. Liang, L., Li1, X., Moutton, S., Schrier Vergano, S.A., Isidor, B., de Saint-Martin, A., Hurst, A.C.E., Hu, Y., Bodamer, O., Thevenon, J., Hung, C.Y., Cogné6, B., Gerard, B., Rega, A., Nambot, S., Lehalle, D., Duffourd, Y., Thauvin-Robine, C., Faivre, L., Bézieau, S., Chen, Q., Mancini, G.M.S., Vitobello, A., and Wang, Q.K. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental phenotypes and neurological disorders. (2019). Hum. Mol. Genet. Jun 1. pii: ddz117. doi: 10.1093/hmg/ddz117. [Epub ahead of print]. PMID: 31152168.
90. East, K.M., Cochran, M., Kelley, W.V., Greve, V., Emmerson, K., Raines, G., Cochran, J.N., Hott, A., and BICK, D.P. Understanding the present and preparing for the future: exploring the needs of diagnostic and elective genomic medicine patients. (2019). Journal of Genetic Counseling. Apr;28(2):438-448. doi: 10.1002/jgc4.1114. PMID: 30964585.
91. BICK, D.P., Jones, M.D., Taylor, S., Taft, R.J., and Belmont, J. The Case for Genome Sequencing in Infants and Children with Rare, Undiagnosed or Genetic Diseases. (2019). Journal of Medical Genetics. 2019. doi: 10.1136/jmedgenet-2019-106111. PMID: 31023718.
92. Hagenkord, J.M., Funke, B., Qian, E., Hegde, M., Jacobs, K., Ferber, M., Lebo, M., Buchanan, A., and BICK, D.P. (2019). The Positive Predictive Value of Genetic Screening Tests. Genetics in Medicine, In Press.
93. Hurst, A.C.E., Wilk, M.A., Holt, J.M., Lyon, E., and BICK, D.P. Clinical Diagnosis Through Whole Genome Sequencing. (2019). Clinical Chemistry. In Press.
94. McKay, C.I., BICK, D., Prokop, J.W., Muñoz, I. Rouse, J., Downs, J. and Leonard, H. Expanding the Phenotype of the CDKL5 Deficiency Disorder: Are Seizures Mandatory? (2020) Am J Med Genet. In Press.
95. Marshall, C.R., BICK, D., Belmont, J.W., Taylor, S.L., Ashley, E., Dimmock, D., Jobanputra, V., Kearney, H.M., Kulkarni, S., and Rehm, H., on behalf of the Medical Genome Initiative. Best Practice Recommendations for the Clinical Whole Genome Sequencing Intended for the Diagnosis of Rare Genetic Disease: The Medical Genome Initiative (2020). Submitted.
Books, Chapters, and Reviews
1. Lau, E.C., Janson, M.M., Ball, C.B., Roesler M.R., VanTuinen, P., BICK, D.P., Strawn, E.Y. In Vitro Fertilization: Innovative Clinical and Laboratory Aspects, Chapter 8: Preimplantation Genetic Testing: Current Status and Future Prospects. ISBN: 978-953-51-0503-9. 2012
2. Duffy, K.J., Kelly, M.E., BICK, D.P. Sander & North's Vascular Tumors and Developmental Malformations: Pathogenic Mechanisms and Molecular Diagnosis. Chapter 2: Vascular Overgrowth, 2016.
Editorials, Letters to Editor, Other
1. BICK, D.P., Ballabio, A. Letter to the Editor: Chromosome abnormalities in and pathogenesis of Kallmann Syndrome. Am J Med Genet 37:298, 1990.
2. BICK, D.P., Maddalena, A., Black, S.H., Headrick, E.G., Cummings, E., Jones, S.L., Costakos, D., Becker, R., Schulman, J.D. Letter to the Editor: Prenatal screening for the delta-F508 cystic fibrosis mutation in a population not selected for cystic fibrosis. Lancet 336:1324, 1990.
3. Schulman, J.D., Maddalena, A., Black, S.H., BICK, D.P. Letter to the Editor: Screening for Cystic Fibrosis Carriers. Am J Hum Genet 47:740, 1990.
Abstracts 1. BICK, D.P., Balkite, E., Baumgarten, A., Hobbins, J.C., Maloney, M.J. Occurrence of amniotic fluid acetylcholinesterase in association with congenital skin disorders. Am J Hum Genet, 37: A213, 1985.
2. BICK, D.P., Fenton, W.A., Kalousek, F., Kraus, J.P., and Rosenberg, L.E. Molecular cloning of a human methylmalonyl CoA mutase cDNA. Clinical Research, 1987.
3. BICK, D.P., Schorderet, D.F., McGill, J.R., Bux, R.C., Moore, C.M. Ichthyosis, Kallmann syndrome and chondrodysplasia punctata in a male infant and an Xp chromosome deletion: relationship to warfarin embryopathy. Am J Hum Genet, 43: A39 (Supplement), September 1988.
4. Jorgenson, R.J. and BICK, D.P. A new syndrome of dwarfism, trichodysplasia, cleft palate and unusual facies. March of Dimes Clinical Genetics Conference. Baltimore, Maryland. 1988.
5. BICK, D.P., Snead, M., Yen, P.H., McGill, J., Schorderet, D., Hejtmancik, J.F., Ballabio, A., Campbell, L., L., Moore, C., Curry, C.J., Lau, E.C., Shapiro, L. Mapping chondrodysplasia punctata, ichthyosis, Kallmann Syndrome and DNA markers in male patients with Xp chromosome deletions. Human Gene Mapping Cytogenet Cell Genet 51:962, 1989.
6. Ballabio, A., Carrozzo, R., BICK, D.P., Andria, G., Fraccaro, M. Deletion map of the Xp22.3-pter region obtained by the study of patients with contiguous gene syndromes. Human Gene Mapping 10. Cytogenet Cell Genet 51:957, 1989.
7. Schwanzel-Fukuda, M., BICK, D.P., Pfaff, D.W. Luteinizing hormone-releasing hormone (LHRH) cells do not migrate normally in Kallmann's syndrome (hypogonadotropic hypogonadism with anosmia). Soc for Neurosci, 1989.
8. BICK, D.P., Schwanzel-Fukuda, M., Pfaff, D.W., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W., Moore, C.M. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis and Kallmann syndrome due to an Xp deletion: Evidence for a neuronal migration defect in Kallmann syndrome. Am J Hum Genet 45: A252, 1989.
9. Ryan, S.G., BICK, D.P., Mackley, R.W., Naylor, S.L. Hereditary startle disease: clinical features and response to clonazepam in a large pedigree amenable to linkage analysis. Am J Hum Genet 45: A61, 1989.
10. Cheah, M.S.C., McDonald, S., BICK, D.P. Regulation of the human fgr proto-oncogene expression during fetal liver development. The American Pediatric Society/The Society for Pediatric Research, 1990.
11. BICK, D.P., Maddalena, A., Black, S.H., Costakos, D., Cummings, E., Jones, S.L., Headrick, E.G. Pilot study of prenatal screening for the delta-F508 cystic fibrosis (CF) mutation in an unselected population. Am J Hum Genet 47: A209, 1990.
12. Maddalena, A., BICK, D.P., Fugger, E., Jones, S., Schulman, J.D. Screening of sperm bank donors for the delta-F508 cystic fibrosis mutation. Am J Hum Genet 47: A290, 1990.
13. Park, C.Y., BICK, D.P., Bustamante, S.A. Disaccharidase activity in the human fetal intestine: focus on early ontogeny. Southern Society for Pediatric Research, 1991.
14. Black, S.H., Maddalena, A., BICK, D.P., Levinson, G., Howard-Peebles, P.N., Schulman, J.D. Molecular fragile X screening in a pregnant population with family histories of mental retardation (MR) or learning disabilities (LD). Am J Hum Genet 51: A20, 1992.
15. Schulman, J.D., Maddalena, A., Black, S.H., BICK, D.P., Howard-Peebles, P.N. Carrier testing of persons with suggestive family histories confirms a high frequency of fragile X. eds. R. J. Hagerman, P. McKenzie. Third International Fragile X Conference. June, 1992.
16. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black, S.H., Schulman, J.D. Sizing fragile X premutations and normal alleles with nested PCR. eds. R. J. Hagerman, and P. McKenzie. Third International Fragile X Conference, 1992.
17. Black, S.H., BICK, D.P., Schulman, J.D. Selected aspects of risks of chorionic villus sampling (CVS) in a large series. Gametes to Embryo. VI International Conference on Early Prenatal Diagnosis of Genetic Disease, 1992.
18. Maddalena, A., Black, S.H., BICK, D.P., Schulman, J.D., Howard-Peebles, P.N. Fragile X screening in an obstetrical population selected for suggestive family histories. 24th Annual March of Dimes-Clinical Genetics Conference, Stanford, CA. July 12-15, 1992.
19. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black, S.H., Schulman, J.D. Improved sizing of fragile X repeats by nested PCR. Sixth International Workshop on Fragile X and X-Linked Mental Retardation, Queensland, Australia. August 3-6, 1993.
20. BICK, D.P. The X-linked Kallmann gene: homology to neural cell adhesions molecules. Presented to the Endocrine Society Meeting. Las Vegas, Nevada, June 9-12, 1993.
21. Stetka, D.G., BICK, D.P., Meck, J.M., Baty, E.B., Schulman, J.D. Two cases of mosaic variegated aneuploidy with microcephaly: a mutation that results in mitotic non-disjunction? Amer J Hum Genet 53:604, 1993.
22. Howard-Peebles, P.N., Fallon, L., Black, S.H., Maddalena, A., BICK, D.P., Levinson, G., Schulman, J.D. Fragile X carrier screening in an obstetric population. Fourth International Fragile X Conference, Albuquerque, NM. August 8-12, 1994.
23. Spence, W.C., Maddalena, A., Demers, D.B., BICK, D.P. Prenatal determination of the genotype in fetuses at risk for RhD and RhE hemolytic disease of the newborn. Am J Hum Genet 55: A9, 1994.
24. Black, S.H., Fallon, L., Cummings, E., Menapace-Drew, G., Maddalena, A., Spence, W.C., BICK, D.P., Levinson, G., Howard-Peebles, P.N. Molecular fragile X screening in pregnancy and egg donor populations. Am J Hum Genet 55: A10, 1994.
25. Meck, J.M., Kozina, C., Stratakis, C., Garnica, A., BICK, D.P., Motz, M.K., Qin, N., Rennert, O. Mosaic variegated aneuploidy with microcephaly: A rare cytogenetic syndrome. Am J Hum Genet 55: A111, 1994.
26. Layman, L.C., Peak, D.B., BICK, D.P., Sherins, R.J., Gray, M.R., Reindollar, R.H. Exon four gonadotropin releasing hormone (GnRH) gene mutation in a sample of 117 patients with idiopathic hypogonadotropic hypogonadism. American Society for Reproductive Medicine. Seattle, WA. Oct. 7-12, 1995.
27. Black, S.H., Fallon, L., Maddalena, A., Cummings, E., Menapace-Drew, G., Spence, W.C., BICK, D.P., Levinson, G., Schulman, J.D., Howard-Peebles, P.N. Molecular Fragile X screening in normal populations. Seventh International Workshop on the Fragile X and X-linked Mental Retardation. Tromso, Norway. August 2-5, 1995.
28. Maddalena, A., Spence, W.C., Demers, D.B., BICK, D.P. Prenatal detection of RhD, Rhc, RhE, and Kell genotypes for management of pregnancies at risk for hemolytic disease of the newborn. Am J Hum Genet 57: A50, 1995.
29. Spence, W.C., Maddalena, A., Howard-Peebles, P.N., BICK, D.P. Contribution of the molecular genetics laboratory to the evaluation of the persistently hypotonic infant. Am Ped Society and Society Pediatr Research 39(4) pt. 2:148A, 1996.
30. BICK, D.P., Stanley, W.S., Stern, H.J., Berkovitz, G.D., Meyers, C.M., Kelley, R.I. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLO) in a sex-reversed fetus. Am J Hum Genet 61:4(A838), 1997.
31. Stavropoulos, D.J., Barrett, I.J., Lomax, B.L., BICK, D.P., Bernasconi, F., Robinson, W.P., Kalousek, D.K. Association of prenatally diagnosed confined placental mosaicism (CPM) and fetal gonadal mosaicism. Am J Hum Genet 61:4(A934), 1997.
32. Layman, L.C., Kalimullah, E., Boachie-Ansah, G., Xie, J., Jin, M., Amde, S., Shah, S. Kawada, P., Pampoonsup, W., Sherins, R.J., BICK, D.P. The low frequency of Kallmann syndrome (KAL) gene mutations in humans with hypogonadotropic hypogonadism suggests non-X linked modes of inheritance. Society of Gynecologic Investigation, 1997.
33. Lavenstein, B., BICK, D.P., Rinaldo, P. Ethylmalonic aciduria in short-chain acyl CoA dehydrogenase deficiency: Recognition of the phenotype, genetic polymorphism and clinical implications. Ann of Neuro 42: P118, 1997.
34. Joseph, N., BICK, D.P., Howard-Peebles, P.N., Overhauser, J., Marinescu, R. C., Li, M.M. Molecular characterization of a patient with oculo-auriculo-vertebral spectrum. Am J Hum Genet 63:4(A784), 1998.
35. Bhagavath, B., Ozata, M., Golu, E., Ozdemir, I.C., BICK, D.P., Sherins, R, Layman, LC. Prevalence of gonadotropin-releasing hormone receptor mutations in humans with idiopathic hypogonadotropic hypogonadism. Endocrine Society Meeting, 85th Annual Meeting, June, 2003.
36. Klein, O.D, Cotter, P.D., Weiss, A., BICK, D.P., Albertson, D.G., Pinkel, D., Rauen, K.A. Interstitial deletion of chromosome 12q: Genotype-phenotype correlation of 2 patients utilizing array comparative genomic hybridization. ACMG, 10th Annual Meeting, Kissimmee, FL, March, 2004.
37. Duffy, K., BICK, D.P., vanTuinen, P., Dugan, S., Olivier, M. Somatic partial chromosome 11 duplication in a patient with Proteus Syndrome. ACMG 13th Annual Meeting, Nashville, TN, March, 2007.
38. Schneider, R.J., Lau, E., Schur, B., Wong, S., BICK, D.P. Development of a rapid protocol for molecular diagnosis of spinal muscular atrophy in preimplantation genetic diagnosis by whole genome amplification and pyrosequencing. Clin Chem, 53(6): A152-A153 C-158 Supp. S. June, 2007.
39. Duffy, K., BICK, D.P., vanTuinen, P., Dugan, S., Yilmaz, A., Schwartz, C., Foulkes, W., Olivier, M. Somatic partial chromosome 11 duplication in patients with Proteus Syndrome. ASHG Annual Meeting, San Diego, CA, October, 2007.
40. Trapane, P., Jarzembowski, J., BICK, D.P., Rhead, W., Wargowski, D., Aradhya, S., Mitchell, A., Veith, R. Microdeletion at 9q33.3q34.11 encompassing the LMX1B and ENG genes: A case report. American Society of Human Genetics Annual Meeting, Philadelphia, PA, November 11-16, 2008.
41. Veith, R., Swanson, A., Denny, A., Leuthner, S., Mitchell, A., BICK, D.P. 18q12.1 Interstitial microduplication in mother and child: A case report. American Society of Human Genetics Annual Meeting, Philadelphia, PA, November 11-16, 2008.
42. Mirza, S.P., Duffy, K., Chesnik, M.A., Cole, R., BICK, D.P., Olivier, M. Revealing the mystery behind 'The Elephant Man': Proteomic characterization of Proteus Syndrome. 57th ASMS Conference on Mass Spectrometry, Philadelphia, PA, May 31, 2009.
43. Rhead, W.R., Wells, C., BICK, D.P., Margolis, D., Kishnani, P., Bali, D., Young, S., White, A. Immune Modulation Therapy in a CRIM Negative Pompe Disease Patient Blocks Antibody Formation Towards
Myozyme, Reverses Cardiomyopathy, and Prolongs Survival. International Congress of Inborn Errors of Metabolism, San Diego, CA, August 29-September 2, 2009.
44. Dimmock, D., Worthy, E., Mayer, A., Verbsky, J., BICK, D.P., Routes, J., Schannen, M., Helbling, D., Schauer, D., Veith, R., Jacob, H., Clinical Utility of Whole Exome Sequencing in the Diagnosis of a Child. American College of Medical Genetics Annual Meeting, Albuquerque, NM, March, 2010.
45. Sekhri, N., VanTuinen, P., Broeckel, U., BICK, D.P. 11p15.4p15.5 Duplication Associated with Russell-Silver Syndrome. American College of Medical Genetics Annual Meeting, Albuquerque, NM, March 24, 2010.
46. Lau, E., Janson, M., Ball, C., Roesler, M., Strawn, E., BICK, D.P. Advances in PGD. BIT Life Sciences 2nd World DNA and Genome Day-2011 Congress. Dalian, China, April 25, 2011.
47. Veith, R., Dimmock, D., BICK, D., White, A., Dugan, S. Clinical Whole Genome Sequencing: Genetic Counseling and Informed Consent for Anticipated Incidental Findings Collection. American College of Medical Genetics Annual Meeting, Vancouver, Canada, March, 2011.
48. Dimmock, D., Willoughby Jr., R., Leuthner, S., Veith, R., Gutzeit, M., May, T., Hambuch, T., Worthey, E., Jacob, H., Tschannen, M., North, P., BICK, D. Clinical Whole Genome Sequencing: One Center's Experience. American College of Medical Genetics Annual Meeting, Vancouver, Canada, March, 2011.
49. Taylor, B., Jacob, H., Schauer, D., North, P., Sander, T., McQuestion, G., BICK, D., Dimmock, D. Experience with the analysis and management of data from whole genome sequencing in clinical practice. American College of Medical Genetics, Vancouver, Canada, March, 2011.
50. Gargis, A.S., Kalman, L.V., Berry, M., BICK, D.P., Dimmock, D.P., Hambauch, T.M., Lu, F., Lyon, E., Voelkerding, K.V., Zehnbauer, B.A., Lubin, L.M., and Working Group. Next Generation Sequencing-Standardization of clinical testing (NEX-StoCT): Approaches to quality assurance and complying with regulatory and professional standards. Association for Molecular Pathology's 2011 Annual Meeting, Grapevine, TX, November 17-19, 2011.
51. Lemke, A.A., BICK, D., Dimmock, D., Veith, R. Perspectives of Genetic Professionals toward Clinical Genome Sequencing and Incidental Findings. American Society of Bioethics and Humanities. Annual Education Conference, Raleigh, NC. 2012, Submitted.
52. Schiller, J.J., Hopp, K.A., Pietz, B.C., BICK, D.P., Lau, E.C., Ellis, T.M. A Simplified Method for Screening Siblings for HLA Identity Using Short Tandem Repeat (STR) Polymorphisms. Hum Immunol 2013 Jan 3.
53. Lindhurst, M.J., Wang, J., Bloomhardt, H., Wikowski, A.M., Singh, L.N., BICK, D.P., Gambello, M.J., Powell, C.M., Darling, T.N., Lee, C. R., Biesecker, L.G. AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. American Society of Human Genetics Annual Meeting, Boston, MA, Oct 22, 2013.
54. Kreissl, M., Sandaraduar, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quilan, K.G., Vilma-Lotta, L., Ravenscroft, G., Todd, E.J., Ceyhan-Dirsoy, O., Gokhin D.S., Maluenda, J., Lek, M., Nolent, F., Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski, B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, Shannon, P., Martin, N., BICK, D.P., Flisberg, A., et. al. Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle. Submitted to World Muscle Society, 10-7-14 and New Directions in Biology and Disease of Skeletal Muscle Conference, 06-29-14.
55. Mankad, J. and BICK, D. Case of Recurrent, Severe Rhabdomyolysis with Chronic Pain and Dysphagia Cause by Novel Mutation in RYR1 Gene. Poster Session 5, American Academy of Neurology 68thAnnual Meeting, Vancouver, BC, Canada, 2014.
56. Intragenic SCN1A microdeletion in a patient with infantile-onset epilepsy highlights the range and limitations of microarrays and DNA sequencing. ACMG Annual Meeting, Salt Lake City, UT, March 2015.
57. Brar, R., Peterson, J., Basel, D., VanTuinen, P., BICK, D.P., and Weik, L. Medical College of Wisconsin, Wisconsin Diagnostic Laboratories, HudsonAlpha Institute for Biotechnology, Poster Presenter: Randeep Brar, ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, 2017.
58. Hott, A., East, K, Kelley, W., Cochran, M., BICK, D.P., and Korf, B., Genome Gateway: An Online Platform to increase communication between patients, providers and researchers. (Program #541) Presented at the 67th Annual Meeting of the American Society of Human Genetics, Orlando, FL, 2017.
59. BICK, D.P., East, K., Kelley, W., Aiken, C., Crouse, A., Jacob, H., Hott, A., Lamb, N., Schroeder, M., Birch, C., Brown, D., Handley, L., Newberry, S., Worthey, E., and Cochran, M. Elective Whole Genome Testing in Clinical Practice. (Program #2593) Presented at the 67th Annual Meeting of the American Society of Human Genetics, Orlando, FL 10/18/2017.
60. Hott, A.; East, K., Kelley, W. Cochran, M. BICK, D.P., and Lamb, N. Patient and Participant Engagement Genomics Through an Electronic Delivery Platform. Poster. Presenter: Adam Hott. Presented at: ACMG Annual Clinical Genetics Meeting, Charlotte, NC, 2018.
