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BIOGRAPHICAL SKETCH 1 NAME

Johnny Y. Deladoëy

Email: johnny.deladoey@umontreal.ca Internet site: thyroid4kids.org CHU Sainte-Justine Endocrinology Service; Room #1722 3175, Chemin de la Côte Sainte-Catherine Montréal (Québec) H3T 1C5 Phone: (514) 345-4931 (extension 5032) FAX: (514) 345-4988

POSITION TITLE Associate Professor of Pediatrics Pediatric Endocrinologist and Diabetologist (Staff) Affiliated Professor of Biochemistry

EDUCATION/TRAINING 2

INSTITUTION AND LOCATION DEGREE / Formation

YEAR(s) FIELD OF STUDY

Collège, Abbaye de St-Maurice, Switzerland University of Bern, Bern, Switzerland USMLE step1 and step 2 University of Zurich, Zurich, Switzerland University of Bern, Bern, Switzerland University of Bern, Bern, Switzerland University of Montreal, Montreal, QC, Canada University of Montreal, Montreal, QC, Canada Heart & Stroke Foundation, Canada CITI Program, University of Miami, FL, USA

B.Sc. M.D. M.D. Postgraduate Course Ph.D. Board / FMH1

Board / FMH1

DES2

PALS provider3

GCP-Investigator4

1990 1996 1996-97 1997-98 2001 2006 2008 2008 2016 2016

Sciences & Humanities Medicine Medicine Experimental Medicine Molecular Endocrinology Pediatrics Pediatric Endocrinology Pediatric Endocrinology Pediatrics Clinical Research

1 FMH: Federatio Medicorum Helveticorum (Swiss Medical Association) 3 2 DÉS: Diplôme d’Études Supérieures en Pédiatrie-Endocrinologie (Postdoctoral training diploma in pediatric endocrinology) 4 3 Pediatric Advanced Life Support (PALS) of the Heart and Stroke Foundation, Canada - Courses given at the CHU Ste-Justine. 5 4 Good Clinical Practice (GCP) – Investigator – Basic Course, sponsored by the CHU Ste-Justine Research Center. 6 7 POSITIONS 8 1997-2001 Research Fellow, University Children‘s Hospital, University of Bern, Switzerland. 9 2002-2004 Pediatric Resident, University Children‘s Hospital, University of Bern, Switzerland. 10 2005-2007 Clinical and Research Endocrine Fellow, Sainte-Justine Hospital, University of Montréal, Montréal, 11

QC, Canada. 12 2008-pres Pediatric Endocrinologist & Diabetologist (Staff), Sainte-Justine Hospital (Centre Hospitalier 13

Universitaire Mère-Enfant), Université de Montréal, Montréal, QC, Canada 14 2008-2014 Clinical Assistant Professor, Department of Pediatrics, Medicine Faculty, 15 Université de Montréal, Montréal, QC, Canada. 16 2014-2016 Clinical Associate Professor, Department of Pediatrics, Medicine Faculty, 17 Université de Montréal, Montréal, QC, Canada. 18 2009-pres Affiliated Professor, Department of Biochemistry, Science Faculty, Université de Montréal, QC, 19 Canada. 20 2015 Invited Professor (short sabbatical leave; July to September 2015), Endocrinology and Diabetes 21 Service, Hôpital Necker Enfants-Malades / IMAGINE, Université Paris-Descartes, Paris, France 22 2016-pres Associate Professor PTG (tenured), Department of Pediatrics, Medicine Faculty, 23 Université de Montréal, Montréal, QC, Canada. 24 25 HONORS, SCHOLARSCHIPS AND AWARDS 26 1998-2001 M.D.-Ph.D. Scholarship award (3136-054879) of the Swiss National Science Foundation (SNF). 27

[CHF 150,000] 28 2006 John Bailey Price for best presentation by a fellow, Canadian Pediatric Group Meeting, Edmonton, 29

February 2006. [500 $ Can] 30 2006 Quebec Thyroid Club; Abbott 1st Price for the best presentation, May 2006, Lac Brome, Canada 31

[500 $ Can] 32

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2006 Grand Price for the best oral presentation, Graduate Students’ Annual Congress, Sainte-Justine 1 Hospital Research Center, June 2006, Montréal, Canada. [500 $ Can] 2

2007 Quebec Thyroid Club; Abbott 2nd Price (ex eaquo) for the best oral presentation, May 2007, 3 Montréal, Canada [250 $ Can] 4

2005-2007 Swiss Foundation of Medical-Biological Scholarship award (PASMA-112979) under the patronage of 5 the SAMS and the Swiss National Science Foundation (SNF). [CHF 117,000] 6

2005-2007 Scholarship Award of the Pediatric Department, University of Montreal, Canada. [CAN$80,000]. 7 2007 Hoffmann La Roche / Canadian Pediatric Endocrine Fellowship Award of the Canadian Pediatric 8

Endocrine Group (CPEG). [CAN$30,000] 9 2008-2012 Career Development Award of the Canadian Child Health Clinician Scientist Program (CCHSCP) 10

[CAN$ 280,000]. CCHCSP is a CIHR Strategic Training Program. Declined upon receipt of the 11 FRSQ scholarship (see below) and converted in Career Enhancement Program Award of the 12 CCHCSP [CAN$20,000]. 13

2008-2012 Research Scholar Junior 1 Award of the Fonds de Recherche du Québec-Santé (FRQS). 14 [CAN$295,500] 15

2012 Henning Andersen Prize 2012 for the Best Clinical Abstract of the European Society for 16 Pediatric Endocrinology (ESPE) [€ 1,500]. 17

2014-2016 Clinical Research Scholar Junior 2 Award of the Fonds de Recherche du Québec-Santé (FRQS) 18 [CAN$72,000]. 19

2014 International Award for Publishing Excellence in The Journal of Clinical Endocrinology & 20 Metabolism for the 2013 Article “Linear Association Between Household Income and Metabolic 21 Control in Children With Insulin-Dependent Diabetes Mellitus Despite Free Access to Health Care”; 22 The Endocrine Society; 2014 June. 23

2014 Charles Hollenberg Young Investigator Award 2014 of the Canadian Society for 24 Endocrinology and Metabolism (CSEM); 2014 October; [CAN$ 20,000] 25

2015 Mid-Career Scientific Development Award of the European Society for Pediatric 26 Endocrinology (ESPE) for a 3-months project at Necker-Hospital / University Paris-Descartes; 27 2015 May; [€ 14,000] 28

29 RESEARCH SUPPORT 30 2005-2006 PI: Research Grant of the Endocrine Fellows Foundation (EEF), USA. [US$7,500 (operating funds)] 31 2008-2009 PI: Start-up Operating Funds of the Ste-Justine Hospital Research Center [CAN$100,000]. 32 2008-2009 PI: Start-up Equipments Funds of the Ste-Justine Hospital Research Center [CAN$100,000]. 33 2008-2011 PI: Young Investigator Operating Grant of the Fonds de Recherche en Santé du Québec (FRSQ); 34

[CAN$45,500]. 35 2010-2013 PI: Thyroid Diseases in Children. Girafonds / Ste-Justine Hospital Foundation [CAN$ 200,000]. 36 2011-2013 PI: Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and 37

Neurocognitive Development. European Society for Pediatric Endocrinology (ESPE) Research 38 Unit Grant [€60,000 / CAN$ 82,000] 39

2013-2016 PI: Genetic Determinants of Congenital Hypothyroidism. Canadian Institutes of Health 40 Research (CIHR) operating grant MOP-130390 [337,338 CAN$] 41

2016-2013 co-PI: Improvement of diagnostic work-up for congenital hypothyroidism by targeted 42 NGS: A multicenter study to compare diagnostic accuracy and cost-effectiveness. European 43 Society for Pediatric Endocrinology (ESPE) Research Unit Grant [€60,000 / CAN$ 82,000] 44

2010-2012 clinical member of the Canadian Pediatric Genetic Disorders Sequencing Consortium / Finding of 45 Rare Disease Genes in Canada (FORGE Canada) funded by Genome Canada, CIHR, Genome 46 Quebec and Genome BC [ND/yr]. 47

2014-2016 co-investigator: Degludec use in pediatric patients (Protocol NN5401-3816). Novo Nordisk 48 Canada Inc. 49

2010-2014 sub-investigator: Auto-immune Diseases and Commonly Prescribed Drugs and Vaccines : An 50 International Multi-Centre Case-referent Epidemiological Field Study (PGRx) – Centre for Risk 51 Research Inc, Montreal: $58,000, 200 patients 52

2001-2015 sub-investigator: international study on genetics determinants of short stature funded by Eli-Lily 53 (Protocol B9R-EW-GDFC(b)): Eli Lilly Canada: $2,175/patient, currently 50 patients, cumulative 54 enrolled patients: 98. 55

2012-2013 sub-investigator: EMR200102_010 – First year growth response associated with genetic markers 56 validation Phase IV open-label study in growth hormone deficient and Turner syndrome pre-57 pubertal children: the PREDICT pharmacogenetics validation – Serono Laboratories Inc.; $20,000; 58 6 patients 59

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2011-pres sub-investigator: A randomised, double-blind, placebo-controlled parallel group dose-finding 1 study of linagliptin (1 mg or 5 mg administered orally once daily) over 12 weeks in children and 2 adolescents, from 10 to 17 years of age, with type 2 diabetes and insufficient glycemic control 3 despite treatment with diet and exercise alone (BI protocol 1218.56) funded by Boehringer 4 Ingelheim Canada [ND/yr] 5

2011-2015 sub-investigator: EasypodTM CONNECT: An International Multi-Centre Study to Monitor GH 6 Compliance - Serono Laboratories, Inc: $1,040/patient, 14 patients (25 planned). 7

2015-2016 sub-investigator: Comparison of VRS-317, a Long-acting Human Growth Hormone, to Daily rhGH 8 in a Phase 3, Ranomized, One-year, Open-label, multi-center, Non-inferiority Trial in Prepubertal 9 Children with Growth Hormone in Children compared to Daily rhGH – 14VR4 – Versatis, Inc. 10

11 PROFESSIONAL SOCIETIES 12

• Canadian Pediatric Endocrine Group (CPEG) 13 • European Society for Pediatric Endocrinology (ESPE) 14 • Collège des Médecins du Québec (CMQ) 15 • Fédération des Médecins Spécialistes du Québec (FMSQ) 16 • Endocrine Society (USA) 17 • Pediatric Endocrine Society (USA) 18 • American Thyroid Association (ATA; USA) 19 • Association des Médecins Endocrinologues du Québec (AMEQ) 20

21 ACADEMIC COMMITTEES & ACTIVITIES 22 2008-pres Thesis Committees: Rasha Abu-Khudir (PhD; as director: 2008-2014); Sonia Cournoyer (MSc; as 23

Jury – director: Dr H. Sartelet; 2013); Isma Benterki (PhD; as member- director: Dr. V. Poitout; 24 2013-pres); Samira Benhadjeba (MSc; as Jury – director : Dr A. Trembaly; 2013). 25

2008-2009 Member Task Force for Renewal of the Internet Site of the Pediatrics Dpt, U of Montreal (local). 26 2009-2011 Member, Fonds de Recherche du Québec (FRSQ), PhD scholarship evaluation committee 27

(committee FF3-5D. 2009:15 reviewed applications; 2010: 17; 2011: 13)(provincial). 28 2009-2010 Member, Jury, Graduate Students’ Annual Congress, Sainte-Justine Hospital Research Center, U of 29

Montreal (local). 30 2009-2010 Member, evaluation committee of the CHU Sainte-Justine Research Center for the following 31

competitions (local): Grants of the Hôpital Ste-Justine Fondation / Fondation des Etoiles 32 CHUFSJ/FDE (2009-2010 competition-7 reviewed applications; 2010-2011 competition-7 reviewed 33 applications). 34

2009-2015 Center Leader of the University of Montreal and member of the Program Advisory Committee 35 for the Canadian Child Health Clinician Scientist Program (CCHSCP). CCHCSP is a CIHR Strategic 36 Training Program (national). 37

2012-2015 Member, Advisory Board, Unité de Recherche Clinique Appliquée (URCA), CHU Sainte-Justine, 38 University of Montréal. (local) 39

2013-2014 Member, Committee for a global consent form / broad biobank, CHU Sainte-Justine, University of 40 Montréal.(local) 41

2013-pres Member, Committee of Space Management, Research Center, CHU Sainte-Justine, University 42 of Montréal.(local) 43

2014 Member, Canadian Institutes of Health Research (CIHR) grant review committee 44 (Endocrinology); Open Operating Grant Program (national) 45

2015-pres Member, Research Ethic Committee, Research Center, CHU Sainte-Justine, University of 46 Montréal.(local) 47

2015-2016 Member, Canadian Institutes of Health Research (CIHR) Review Panel, Stage 2 of CIHR 48 Foundation Scheme. (national) 49

2014-pres Member, Summer School Steering Committee of the European Society for Pediatric 50 Endocrinology (ESPE), an ESPE strategic initiative to train the future leader of the ESPE 51 (international). 52

2015-pres Member, Program Planning Committee of the Canadian Society of Endocrinology and 53 Metabolism (CSEM) (national) 54

55 EDITORIAL / CONGRESSIONAL ACTIVITIES 56 2011-pres Member of the Editorial Board (current): 57

2012-2015 : Journal of Clinical Endocrinology and Metabolism [IF 6.20] 58 2011-pres. : Frontiers in Endocrinology 59

2007-pres ad hoc reviewer (more than 25 reviews/yr) for the following journals: Endocrinology, 60

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J Clin Endocrinol Metab, Thyroid, Pediatrics, Human Mol Genet, Endocrine Related Cancer, Horm 1 Res Ped, PLoS One etc. 2

2012-pres Grant’s reviewer for the following funding agencies: 3 Telethon Foundation, Milan, Italy (2012-1); Canadian Institutes of Health Research (CIHR; 4

2014-2015); French National Research Agency (ANR – general competition 2015); 5 European E-Rare 3 program (2nd round- 2015). 6

2010 Chair, Oral Session on Thyroid Gland Development at the 14th International Thyroid Congress, 7 September 11-16, 2010, Paris, France (International). 8

2011 Reviewer, 2011 Pediatric Academic Societies (PAS) workshops sessions, April 30- May 3, 2011 9 Denver, CO (International). 10

2011 Moderator, Poster Session at the 50th Annual Meeting of the European Society for Pediatric 11 Endocrinology (ESPE), 25-28 September 2011, Glasgow, UK (international). 12

2012 Member, Canadian Pediatric Endocrine Group (CPEG) abstract review committee for the 2012 13 CPEG meeting. 14

2012-pres Abstracts’ Reviewer for the Annuals Meeting of the European Society for Pediatric Endocrinology 15 (ESPE) (international). 16

2012 Abstracts’ Reviewer for the 6th International Congress of the Growth Hormone Research Society 17 (GRS), 17-20 October 2012, Munich, Germany (international). 18

2012-pres Abstracts’ Reviewer for the Canadian Pediatric Endocrinology Group (CPEG) 2012, 2013 and 19 2014 Scientific Meeting, Canada (national) 20

2013 Member, Local Organizing Committee for the Canadian Pediatric Endocrinology Group (CPEG) 21 2013 Scientific Meeting, June 2013, Quebec City, QC, Canada (national). 22

2014 Chair, Thyroid Session – Guided Poster Tour. The 53rd Annual Meeting, European Society for 23 Pediatric Society (ESPE), 18-21 September 2014, Dublin, Ireland (INTERNATIONAL) 24

2015 Chair, Thyroid Session – Guided Poster Tour. The 54th Annual Meeting, European Society 25 for Pediatric Society (ESPE), 1-3 October 2015, Barcelona, Spain (INTERNATIONAL) 26 27 EDUCATIONAL CONTRIBUTIONS 28 Clinical teaching 29 2008-pres Attending Physician, Pediatrics, Pediatric and Adult Endocrinology, CHU-Sainte-Justine. 30 Formal Teaching 31 2008-pres Clinical Endocrinology, University of Montreal (graduate course END8002, 5 to 10 students, 1 32

session of 1h about Congenital Hypothyroidism, yearly). 33 2009 Epigenetic in Human Disease, April 2009, University of Montreal, (graduate course SMC6061, 20 34

students, 1h in 2009) 35 2010-2014 Metabolism 1, University of Montreal, (graduate course BCM1502, ca. 120-140 students, 8 to 10h, 36

yearly) 37 2016-pres Experimental Medicine, University of Montreal (graduate course MMD6001, ca. 20 students, 2h, 38

yearly) 39 40 Graduate 41 2008-2014 Thesis Director, PhD Thesis Committee, Rasha Abu-Khudir, MSc (Biochemisry-PhD 2014.05.26). 42 2011-2016 Thesis Director, PhD Thesis Committee, Fabien Magne, MSc (Medical Science-PhD 2016.06.09). 43 2016-pres Thesis Director, PhD Thesis Committee, Stéphanie Larrivée-Vanier, MSc (Biochemistry). 44 2012 Jury, Master thesis, Sonia Cournoyer (Dir.: Dr Hervé Sartelet). 45 2013 Jury, Master thesis, Samira Benhadjeba (Dir.: Dr André Tremblay). 46 2014-pres Member, PhD Thesis Committee, Samira Benhadjeba (Dir.: Dr André Tremblay). 47 48 Trainees (supervision1 or co-supervision2; only MD fellows with scientific supervision are listed) 49 Period Name Present Position 50 2005-2006 Claire Perruisseau-Carrier M. Sc.2 Communication Officer, Life Science LS2 (Switzerland) 51 2008-2009 Janette Saavedra, MD; Fellow2 Consulting Physician, (Equator) 52 2007-2014 Rasha Abu-Khudir M. Sc.; PhD 1 Lecturer, U of Tantra, Egypt 53 2007-2010 Sophie Stoppa-Vaucher MD; Fellow1 Attending Physician, U of Lausanne (Switzerland) 54 2009-2012 Coralie Leblicq MD; Fellow2 MSc, McGill University, Montreal 55 2009-2011 Steffi Wildi-Runge MD; Fellow2 Attending Physician, PEZZ, Zürich (Switzerland) 56 2010-2007 Stéphanie Michaud MD; Fellow2 Staff Endocrinologist, Hôpital Charles-Lemoyne, QC 57 2010-2011 Isabelle Vandernoot MD; PhD student1 Geneticist, Free University of Brussels (Belgium) 58 2011-2012 Caroline Hasselmann MD; Fellow2 Consulting Physician, CHU Tours, France 59 2011-2016 Fabien Magne; M.Sc.;PhD 1 Resident, Clinical Biochemistry, U of Montreal 60

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2012-2015 Despoina Manousaki, MD, Fellow2 MSc, McGill University, Montreal 1 2015 Karine Bourdet, MD, Fellow2 Attending Physician, CHU Brest, France 2 2016-pres Stéphanie Larrivée-Vanier, MSc1 PhD student, U of Montreal 3 4 Awards to trainees 5 2009 Canadian Pediatric Endocrine Group Award declined upon receipt of Eugène Litta Foundation Award 6

(Geneva) to Sophie Stoppa-Vaucher. [CHF 50,000] (national) 7 2009 Quebec Thyroid Club; Abbott 3rd Price for the best oral presentation, May 2009, Montréal, Canada 8

to Rasha Abu-Khudir. [200 $ Can] (local) 9 2009 Prize for the best oral presentation by a resident at the Annual Meeting of the Canadian Society of 10

Endocrinology and Metabolism, November 2009, Montréal, Canada to Sophie Stoppa-Vaucher. [500 11 $ Can] (national) 12

2009 Excellence PhD Award of the Faculté des Études Supérieures and the Biochemistry Department, 13 University of Montréal, November 2009, to Rasha Abu-Khudir. [3,000 $ Can] (local) 14

2010 Excellence PhD Award of the Faculté des Études Supérieures and the Biochemistry Department, 15 University of Montréal, November 2010, to Rasha Abu-Khudir. [4,500 $ Can] (local) 16

2011-2013 PhD Award of Fondation des Étoiles / Fondation CHU Sainte-Justine, December 2010, for Rasha 17 Abu-Khudir. [17,500$/yr Can; acceptance rate 9/31] (local) 18

2011 Presidential Poster Competition Award for best poster presentation at The Endocrine Society's 93rd 19 Annual Meeting, June 4-7 2011, Boston, MA; for Steffi Wildi-Runge MD; Fellow. (international) 20

2013 Award for the best oral presentation by a PhD student at the 28th Graduate Student Congress of 21 the Research Center of the CHU Sainte-Justine, 30 May 2013, for Rasha Abu-Khudir [250$ Can] 22 (local) 23

2014 Prix Réseau de recherche en santé cardiométabolique, diabète et obésité (CMDO) for the best 24 presentation by a PhD student at the 29th Graduate Student Congress of the Research Center of the 25 CHU Sainte-Justine, 29 May 2014, for Fabien Magne [500$ Can] (local) 26

27 PEER-REVIEWED PUBLICATIONS (55) in chronological order (Trainees) 28

1. Flück C, Deladoëy J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE. Phenotypic variability in familial 29 combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of 30 Arg->Cys at codon 120 (R120C). J Clin Endocrinol Metab 1998; 83: 3727-3734. 31

2. Deladoëy J, Flück C, Buyukgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE. „Hot spot“ in 32 the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1999; 84: 33 1645-1650. 34

3. Deladoëy J, Flück C, Bex M, Yoshimura N, Harada N, Mullis PE. Aromatase deficiency caused by a novel 35 P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a 36 boy. J Clin Endocrinol Metab 1999 ; 84: 4050-4054. 37

4. Nuoffer JM, Flück C, Deladoëy J, Eble A, Dattani MT, Mullis PE. Regulation of human GH receptor gene 38 transcription by 20 and 22 kDa GH in a human hepatoma cell line. J Endocrinol 2000; 165:313-20. 39

5. Wajnrajch MP, Gertner JM, Mullis PE, Deladoëy J, Cogan JD, Lekhakula S, Kim S, Dannies PS, Saenger P, 40 Moshang T, Phillips III JA, Leibel RL. Arg183His, a new mutational „hot spot“ in the growth hormone (GH) 41 gene causing isolated GH deficiency type II. J Endocrine Genetics 2000; 1:125-135. 42

6. Deladoëy J, Stocker P, Mullis PE. Autosomal dominant GH deficiency due to an Arg183His GH-1 gene 43 mutation: clinical and molecular evidence of impaired regulated GH secretion. J Clin Endocrinol Metab 44 2001; 86:3941-3947. 45

7. Vuissoz JM*, Deladoëy J*, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis PE. New autosomal 46 recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. J Clin Endocrinol 47 Metab 2001; 86:4468-4471 (*equal contributors). 48

8. Flück CE, Deladoëy J, Nayak S, Zeller O, Kopp P, Mullis PE. Autosomal dominant neurohypophyseal 49 diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin 50 moiety of prepro-vasopressin-neurophysin II (AVP-NP II). Eur J Endocrinol 2001; 145:439-444. 51

9. Mullis PE, Deladoëy J, Dannies PS. New GH-1 Gene mutations: expanding the spectrum of causes of 52 isolated growth hormone deficiency. J Pediatr Endocrinol Metab 2002; 15: 1301-1310. 53

10. Mullis PE, Deladoëy J, Dannies PS. Molecular and cellular basis of isolated dominant growth hormone 54 deficiency, IGHD type II: insights on the secretory pathway of peptides hormones. Horm Res 2002; 58: 55 53-66. 56

11. Deladoëy J, Gex G, Vuissoz JM, Strasburger CJ, Wajnrajch MP, Mullis PE. Effect of different growth 57 hormone (GH) mutants on the GH-receptor gene transcription in a human hepatoma cell line: a 58 comparative study with 22-kDa normal GH. Eur J Endocrinol 2002; 146: 573-581. 59

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12. Deladoëy J*, Vuissoz JM*, Doméné HM*, Malik N, Grunerio-Papendieck L, Chiesa A, Heinrich JJ, Mullis 1 PE. Congenital secondary hypothyroidism due to C105V (C105 fr sh, 114X) TSH-b mutation: genetic study 2 of five unrelated families from Switzerland and Argentina. Thyroid 2003; 13: 553-559 (*equal 3 contributors). 4

13. Mullis PE, Robinson IC, Salemi S, Eble A, Besson A, Vuissoz JM, Deladoëy J, Simon D, Czernichow P, 5 Binder G. Isolated autosomal dominant growth hormone deficiency (IGHD II): An evolving pituitary 6 deficit? A multi-center follow-up study. J Clin Endocrinol Metab 2005; 90: 2089-2096. 7

14. Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eble A, Fluck C, Mullis PE. Short stature caused by a 8 biologically inactive mutant growth hormone (GH-C53S). J Clin Endocrinol Metab 2005; 90: 2493-2499. 9

• Cited in the Yearbook of Pediatric Endocrinology 2005 (Karger). 10 15. Salemi S, Yousefi S, Eblé A, Deladoëy J, Mullis PE. Impact of del32-71-GH (exon 3 skipped GH) on 11

intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis. Horm 12 Res 2006; 65: 132-141. 13

16. Salemi S, Yousefi S, Eblé A, Lochmatter D, Deladoëy J, Robinson ICAF, Simon HU, Mullis PE. Isolated 14 Autosomal Dominant Growth Hormone Deficiency (IGHD II): Stimulating mutant GH-1 gene expression 15 drives GH-1 splice-site selection, cell proliferation and apoptosis. Endocrinology 2007; 148: 45-53. 16

17. Deladoëy J, Bélanger N, Van Vliet G. Random Variability in Congenital Hypothyroidism from Thyroid 17 Dysgenesis over 16 years in Quebec. J Clin Endocrinol Metab 2007; 92: 3158-3161. 18

• Cited in the Yearbook of Pediatric Endocrinology 2008 (Karger). 19 18. Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G. 20

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular 21 and in silico studies. J Clin Endocrinol Metab 2008; 93: 627-633. 22

• Cited and evaluated by the Faculty of 1000 Medicine (http://f1000.com/1116848) 23 19. Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, 24

Payot A, Laberge S, Vassart G, Van Vliet G, Deladoëy J. Lethal respiratory failure and mild primary 25 hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin 26 Endocrinol Metab 2009; 94: 197-203. 27

20. Shenoy A, Esquibies AE, Dunbar N, Dishop MK, Reyes-Mugica M, Langston C, Deladoëy J, Abu-Khudir R, 28 Carpenter T, Bazzy-Asaad A. A novel presentation of diffuse lung disease secondary to congenital 29 hypothyroidism. J Pediatr 2009; 155:593-5. 30

• Highlighted by an editorial (J Pediatr 2009; 155: A1) 31 21. Stoppa-Vaucher S, Francoeur D, Grignon A, Alos N, Pohlenz J, Van Vliet G, Deladoëy J. A 19-weeks fetus 32

with non-immune hypothyroidism and goiter: a plea for conservative management. J Pediatr; 2010; 33 156:1026-9. 34

• Cited in the Yearbook of Pediatric Endocrinology 2010 (Karger). 35 22. Stoppa-Vaucher S, Lapointe A, Turpin S, Rydlewski C, Vassart G, Deladoëy J. Ectopic Thyroid Gland 36

causing Dysphonia: Imaging and Molecular Studies. J Clin Endocrinol Metab 2010; 95: 4509-4510. 37 • Selected case report for the book Diagnostic Dilemmas published in 2011 by the Endocrine Society. 38

23. Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoëy J. Transcriptome, 39 Methylome and Genomic Variations Analysis of Ectopic Thyroid Glands. PLoS ONE 2010; 5(10): e13420 40

• Highlighted by the Target Intelligence Service (TIS), a database used by pharmaceutical companies 41 to identify groundbreaking research of relevance for their own work on potential drug target. 42

• Cited and evaluated by the Faculty of 1000 Medicine (http://f1000.com/8843956) 43 • Cited in the Yearbook of Pediatric Endocrinology 2011 (Karger). 44 • More than 5,000 views with 1,000 downloads on PLoS One and PMC web site (February 8th, 2015). 45

24. Leblicq C, Rottembourg D, Deladoëy J, Van Vliet G, Deal C. Are Guidelines for Glucocorticoid Coverage in 46 Adrenal Insufficiency Currently Followed? J Pediatr 2010 158:492-498. 47

• Highlighted by an editorial (J Pediatr 2009; 158: A1) 48 • Highlighted by an editorial in Endocrine Today 49

25. Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Variation by Ethnicity in the Prevalence of Congenital 50 Hypothyroidism due to Thyroid Dysgenesis. Thyroid 2011; 21(1):13-18. 51

26. Saavedra J*, Deladoëy J*, Saint-Vil D, Boivin Y, Alos N, Deal C, Van Vliet G, Huot C. Is Ultrasonography 52 Useful for Predicting Thyroid Cancer in Children with Apparently Benign Cytopathologic Features? (*co-1st 53 author). Horm Res Paediatr 2011; 75:269-75. 54

27. Deladoëy J, Ruel J, Giguère Y, Van Vliet G. Is the incidence of congenital hypothyroidism really 55 increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab 2011; 96: 56 2422–2429. 57

• Highlighted by an editorial (J Clin Endocrinol Metab 2011; 96: 2395–2397) 58 • Induced a change in screening protocol in Quebec (higher threshold for 2nd test – January 2012) 59 • Highlighted in ‘the 2011 Year in Review’ of the Lawson Wilkins Pediatric Endocrine Society (USA) 60

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• Cited in the Yearbook of Pediatric Endocrinology 2012 (Karger). 1 28. Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Discovery of a fetal goiter on prenatal ultrasound in women 2

treated for Graves’ disease: First, do not harm. Thyroid 2011; 21: 931. 3 29. Vandernoot I, Sartelet H, Abu-Khudir R, Chanoine JP, Deladoëy J. Evidence for calcitonin-producing cells 4

in human lingual thyroids. J Clin Endocrinol Metab 2012; 97: 951-956. 5 30. Stoppa-Vaucher S, Aybe T, Paquette J, Patey N, Francoeur D, Vuissoz JM, Deladoëy J, Ogata T, Deal C. 6

46, XY Gonadal Dysgenesis: New Point Mutation in Two Siblings and a Germ Line Mosaicism in Their 7 Father. Clinical Genetics 2012; 82:505-513. 8

31. Wildi-Runge S, Stoppa-Vaucher S; Lambert R, Turpin S, Van Vliet G, Deladoëy J. A high prevalence of 9 dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during 10 embryonic thyroid migration or for the polyclonal nature of the thyroid gland? J Clin Endocrinol Metab 11 2012; 97: E978-81. 12

• Highlighted by an editorial in Endocrine News (May 2012), the monthly magazine for clinician 13 endocrinologists, a publication of The Endocrine Society. 14

• Cited in the Yearbook of Pediatric Endocrinology 2013 (Karger). 15 32. Samuels ME, Gallo-Payet N, Pinard S, Hasselman C, Magne F, Patry L, Chouinard L, Schwartzentruber J, 16

René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D,Deal CL Van Vliet G, Majewski J, 17 Deladoëy J. Bioinactive ACTH Causing Glucocorticoid Deficiency. J Clin Endocrinol Metab 2013; 98: 736-18 742. 19

• Highlighted by an article in lay journal La Presse (31 January 2013), the main French daily journal 20 of the city of Montreal. 21

• Interview for Radio-Canada International (6 February 2013). 22 • Highlighted by an article on the web site of the Société Française d’Endocrinologie 23

(http://www.sfendocrino.org; Newsletter Recherche no. 6 – Mars 2013). 24 • Cited in the Yearbook of Pediatric Endocrinology 2013 (Karger). 25

33. Wildi-Runge S*, Deladoëy J*, Bélanger C, Deal CL, Van Vliet G, Alos N, Huot C. A search for variables 26 predicting cortisol response to low dose cortricotropin stimulation following supraphysiological doses of 27 glucocorticoids. (*co-1st author) J Pediatr 2013, 163 (2): 484-488. 28

34. Hasselmann C*, Deladoëy J*, Vuissoz JM, Patry JM, Alirezaie N, Schwartzentruber J, Deal CL, Van Vliet 29 G, Majewski J, Samuels M. Expanding the phenotypic spectrum of nicotinamide nucleotide 30 transhydrogenase(NNT) mutations and using whole exome sequencing to discover potential disease 31 modifiers. (*co-1st author) J Genomes Exomes 2013; 1: 19-30 (doi: 10.4137/JGE.S11378); open access 32 at http://www.la-press.com 33

35. Deladoëy J and Van Vliet G. Treating Congenital Hypothyroidism: Which Levothyroxine? Nat Rev 34 Endocrinol 2013; 9: 257-258. 35

36. Deladoëy J, Henderson M, Geoffroy L. Linear association between household income and metabolic 36 control in children with insulin-dependent diabetes mellitus despite free access to health care. J Clin 37 Endocrinol Metab 2013; 98: E882-E885. 38

• Highlighted by an article in lay journal The Gazette (5 April 2013), the main English daily journal 39 of the city of Montreal. 40

• Highlighted by an article in the blog of kpcc operated by Southern California Public Radio (15 41 April 2013). The station has among the widest-reaching broadcast areas of all public radio stations 42 in Southern California, with a signal that reaches through most of Los Angeles and Orange County. 43 The station is listened to by approximately 600,000 listeners each week. 44

• This 2013 paper received the International Award for Publishing Excellence in The Journal of 45 Clinical Endocrinology & Metabolism. 46

37. Sharkia M, Michaud S, Berthier MT, Giguère Y, Stewart L, Deladoëy J, Deal CL, Van Vliet G, Chanoine JP. 47 Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome. J Pediatr 2013; 163(3): 800-805. 48

38. Samuels M, Hasselmann C, Deal C, Deladoëy J, Van Vliet G. Whole-exome sequencing: opportunities in 49 pediatric endocrinology. Pers Med 2014; 11(1): 63-78. 50

39. Grob F, Deladoëy J, Legault L, Spigelblatt L, Fournier A, Parma J, Vassart G, Van Vliet G. Autonomous 51 adenomas caused by somatic mutations of the thyrotropin receptor in children. Horm Res Ped 2014; 52 81 :73-79. 53

40. Abu-Khudir R, Magne F, Chanoine JP, Deal C, Van Vliet G, Deladoëy J. Role for tissue-dependent 54 methylation differences in the expression of FOXE1 in non-tumoral thyroid glands. J Clin Endocrinol Metab 55 2014; 99(6): E1120-E1129. 56

• Highlighted by an article on the web site of the Société Française d’Endocrinologie 57 (http://www.sfendocrino.org; Newsletter Recherche #11 and #12) 58

• Cited in the Yearbook of Pediatric Endocrinology 2014 (Karger). 59

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41. Deladoëy J, Van Vliet G. The changing epidemiology of congenital hypothyroidism: fact or artifact? 1 Expert Review in Endocrinology 2014; 9(4): 387-395. 2

42. Magne F, Serpa R, Van Vliet G, Samuels ME, Deladoëy J. Somatic mutations are not observed by exome 3 sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism with 4 thyroid dysgenesis. Horm Res Ped 2015; 83(2): 79-85. 5

43. Opitz R*, Hitz MP*, Vandernoot I, Trubiroha A, Abu-Khudir R, Samuels M, Désilets V, Costagliola S*, 6 Andelfinger G*, Deladoëy J*. Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 7 as a Link between Aberrant Cardiovascular Development and Thyroid Dysgenesis. Endocrinology 2015; 8 156(1): 377-388. (* equal contributors) 9

• Highlighted by an article on the web site of the Société Française d’Endocrinologie 10 (http://www.sfendocrino.org; Newsletter Recherche #15 – April 2015) 11

• Cited in the Yearbook of Pediatric Endocrinology 2015 (Haymarket). 12 44. Van Vliet G*, Deladoëy J*. Sublingual thyroid ectopy: similarities and differences with Kallmann 13

Syndrome. (* equal contributors) F1000 Prime Rep 2015, 7:20. http://f1000.com/prime/reports/m/7/20 14 45. Decaussin-Petrucci M, Sassolas G, Hafdi-Nejjari Z, Borson-Chazot F, Abu-Khudir R, Deladoëy J, 15

Cournoyer S, Sartelet H. Expression of CD 133 in differentiated thyroid cancer of young patients. J Clin 16 Pathol 2015 ; 68(6) : 434-440. 17

46. Deladoëy J, Harrington K. Has triiodothyronine treatment of children after cardiopulmonary bypass 18 surgery any long-term effects? Horm Res Ped 2015; 84(2): 137-138. 19

47. Larrivée-Vanier S, Magne F, Patey N, Chanoine JP, Vuissoz JM, Van Vliet G, Deladoëy J. Conserved 20 telomere length in human ectopic thyroids: an argument against premature differentiation causing 21 arrested migration. Thyroid 2015; 25(9): 1050-1054. 22

48. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford M, Bernard G, Bernier 23 F, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez B, Frosk P, Geraghty M, 24 Gerull B, Gibson W, Gow RM, Graham G, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, 25 Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel S, Penney LS, 26 Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu V, Suchowersky O, Tarnopolsky MA, Yoon G, 27 Zahir F, FORGE Canada Consortium, Care4Rare Canada Consortium, Majewski J, Boycott KM. Utility of 28 whole-exome sequencing toward the end of the diagnostic odyssey: time to address gaps in care. Clin 29 Genet 2016; 89(3): 275-284. 30

49. Bourdet K, Valette S, Deladoëy J, Van Vliet G. Early-onset central diabetes insipidus due to compound 31 heterozygosity for preproAVP mutations. Horm Res Ped 2016; 85(4): 283-287. 32

50. Perlsteyn M, Deladoëy J, Van Vliet G. Similar levothyroxine requirements of school-age children with 33 congenital or acquired hypothyroidism. Eur J Pediatr 2016; 175(6): 869-872. 34

51. Henderson M, Benedetti A, Barnett T, Mathieu ME, Deladoëy J, Gray-Donald K. The influence of adiposity, 35 physical activity, fitness and screen time on insulin dynamics over 2 years in youth. JAMA pediatrics 2016; 36 170(3): 227-235. 37

52. Magne F, Ge B, Larrivée-Vanier S, Van Vliet G, Samuels ME, Pastinen T, Deladoëy J. Determination of 38 autosomal monoallelic expression in thyroid tissue assessed by whole-exome and bulk RNA sequencing. 39 Thyroid 2016; 26(6): 860-863. 40

53. Mendez A, Bigras JL, Deladoëy J, Hoberhoffer F, Dery J, Audibert F, Raboisson MJ. Tricuspid regurgitation 41 and abnormal isthmic flow: prenatal manifestation of hyperthyroidism. Ultrasound Obstet Gynecol 2016; 42 Epub Nov 11. 43

54. Scott R, Van Vliet G, Deladoëy J. Association of adrenal insufficiency with insulin-dependent diabetes 44 mellitus in a patient with inactivating mutations in nicotinamide nucleotide transhydrogenase: a 45 phenocopy of the animal model. Eur J Endocrinol 2017 ; 176(3) : C1-C2 (doi: 10.1530/EJE-16-0970) 46

55. Ghaddhab C, Vuissoz JM, Deladoëy J. From bioinactive ACTH to ACTH antagonist: the clinical perspective. 47 Front Endocrinol (Lausanne) 2017 ; 8 : 17. doi: 10.3389/fendo.2017.00017 (accepted 18 Jan 2017) 48 49

Publications submitted or in preparation 50 1. Deladoëy J. Disorders of Thyroid Morphogenesis. Best Practice & Research : Clin Endocrinol & Metab 51

2017. 52 53 Book Chapters (12) 54

1. Deladoëy J, Vassart G, Van Vliet G. Possible non-Mendelian mechanisms of thyroid dysgenesis. In: Guy 55 Van Vliet, Michel Polak, editors. Pediatric Thyroid Disorders: Advances in Developmental Biology, 56 Physiology and Clinical Management. Basel: Karger; Endocr Dev 2007; 10: 29-42. 57

2. Deladoëy J. An 8-year old girl with a lingual mass. In: Leonard Wartofsky, Editor. Diagnostic Dilemmas: 58 Images in Endocrinology. The Endocrine Society, September 2011. ISBN 1-879225-87-5 59

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3. Deladoëy J. Congenital Hypothyroidism due to Thyroid Dysgenesis: from Epidemiology to Molecular 1 Mechanisms. In: Draha Springer, editor. A New Look at Hypothyroidism. InTech edition, February 2012. 2 ISBN 978-953-51-0020-1. 3

4. Van Vliet G, Deladoëy J. Hypothyroidism in infants, children and adolescents. In: Lewis E. Bravermann, 4 editor. Werner and Ingbar’s The Thyroid: A Fundamental and Clinical Text, 10th Edition, Chapter 54, pp. 5 787-802. Lippincott Williams & Wilkins, New York, 2013. ISBN 978-1-4511-2063-9. 6

5. Van Vliet G, Deladoëy J. Disorders of the Thyroid in the Newborn and Infant. In: Mark A. Sperling, editor. 7 Pediatric Endocrinology, 4th Edition. Elsevier, Philadelphia, 2014. ISBN 9781455748587. 8

6. Deladoëy J. Goitre, hypothyroïdie et hyperthyroïdie. In: Marie Gauthier, editor. Dictionnaire de 9 Thérapeutique Pédiatrique Weber, 3rd Edition, chapitre 103, pp. 499-504. Chenelière Éducation, Montréal, 10 2015. ISBN 978-2-7650-4746-9. 11

7. Luu T.M., Deladoëy J, Lapointe A, Samson Y. Masses Cervicales. In: Marie Gauthier, editor. Dictionnaire 12 de Thérapeutique Pédiatrique Weber, 3rd Edition, chapitre 161, pp. 785-787. Chenelière Éducation, 13 Montréal, 2015. ISBN 978-2-7650-4746-9. 14

8. Van Vliet G, Deladoëy J. Congenital Hypothyroidism: diagnosis, treatment and outcome. In: Gabor 15 Szinnai, editor. Endocrine Development: Pediatric Thyroidology. S.Karger Publishers, Basel, Switzerland, 16 Endocr Dev 2014; 26: 50-59. 17

9. Szinnai G, Leger J, Bauer A, Pearce E, Ramos HE, Canalli MH, Onigata K, Elisei R, Radetti G, Polak M, Van 18 Vliet G, Deladoëy J. Clinical case seminar in pediatric thyroid disease. In: Gabor Szinnai, editor. 19 Endocrine Development: Pediatric Thyroidology. S.Karger Publishers, Basel, Switzerland, Endocr Dev 20 2014; 26: 214-244. 21

10. Pohlenz J, Van Vliet G, Deladoëy J. Developmental abnormalities of the thyroid. In: Roy E. Weiss and 22 Samuel Refetoff, editors. Genetic Diagnosis of Endocrine Disorders, 2nd edition. Academic Press / Elsevier, 23 San Diego, CA, 2016. ISBN 978-0-12-800892-8. 24

11. Deladoëy J, Van Vliet G, Giguère Y. Neonatal screening for congenital hypothyroidism. In: Bona, De Luca, 25 Monzani (eds). Thyroid Diseases in Childhood. Springer International Publishing, Switzerland, 2015. ISBN 26 978-3-319-19212-3. 27

12. Van Vliet G, Deladoëy J. Interpreting minor variations in thyroid function and echostrcuture: treating 28 patients, not numbers or images. In: Daneman D and Palmert M, editors. Issue on Pediatric Endocrinology 29 & Diabetes. Pediatr Clin North Am 2015; 62(4):929-942. 30

ABSTRACTS (50+) / Trainees 31 (if presented at several meetings, only listed one time) 32

1. Deladoëy J, Mullis PE. Effect of the dominant negative human growth hormone (hGH) gene mutations on 33 the regulated secretory pathway: why the wild type hGH is loosing its way. Swiss society of Endocrinology 34 and Diabetology, Meeting 5-6 November 1999, Bern, Switzerland. (oral presentation / national). 35

2. Deladoëy J, Mullis PE. Effect of the dominant negative human growth hormone (hGH) gene mutation 36 Arg183His on the regulated secretory pathway. Growth Hormone Research Society International Meeting, 37 7-9 September 2000, Gothenburg, Sweden; Abstract O64, GH & IGF Res. (2000) 10: 129-186. (oral 38 presentation / international). 39

3. Vuissoz JM, Deladoëy J, Buyukgebiz A, Cemeruglu P, Gex G, Gallati S, Mullis PE. New autosomal 40 recessive mutation of the TSH-b subunit gene causing central isolated hypothyroidism. Swiss Society of 41 Pediatrics, Annual Meeting, 14-16 June 2001, Luzern, Switzerland. (oral presentation / national). 42

4. Vuissoz JM, Deladoëy J, Eblé A, Janner M, Gex G, Nuoffer JM, Gallati S, Mullis PE. Mutational “hot spot” 43 in the TSH-beta subunit gene causing isolated thyroid-stimulating hormone (TSH) deficiency. Swiss 44 Society of Endocrinology and Diabetology, Meeting 9 November 2001, Bern, Switzerland. (oral 45 présentation / national). 46

5. Salemi S, Besson A, Baltensperger K, Eblé A, Deladoëy J, Mullis PE. Autosomal dominant GH-deficiency 47 (IGHD Type II) caused by different GH-1 gene mutations: alteration of the GH secretory pathway analysed 48 by quantitative confocal microscopy. Swiss Society of Endocrinology and Diabetology Meeting, November 49 14th 2003, Bern, Switzerland. (oral presentation / national) 50

6. Salemi S, Besson A, Baltensperger K, Eblé A, Deladoëy J, Mullis PE. Autosomal dominant GH-deficiency 51 (IGHD Type II) caused by different GH-1 gene mutations: alteration of the GH secretory pathway analysed 52 by quantitative confocal microscopy.Growth hormone Research Society International Meeting, April 18th-53 22th 2004, Cairns, Australia. Abstract 142. Growth Horm IGF Res (2004) 14: 129-171. (oral 54 presentation / international) 55

7. Deladoëy J, Deal C, Van Vliet G. Molecular mechanisms of thyroid dysgenesis. CCHCSP (Canadian Child 56 Health Clinician Scientist Program), Third Annual National Symposium, October 14th-16th 2005, St. John‘s, 57 Newfoundland; and the 18th Annual Meeting of the Canadian Pediatric Endocrine Group, February 3rd-5th 58 2006, Edmonton, Canada. (awarded). (oral presentation / national) 59

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8. Deladoëy J, Deal C, Van Vliet G, Vuissoz JM. Comment fonctionne une désiodinase ? Une étude in silico. 1 Thyroid Club of Quebec, May 17th 2006, Lac Brome, Canada (awarded); and XXIth Annual Congress of the 2 Research Center-CHU Sainte-Justine, June 2nd 2006, Montreal, Canada (awarded). (oral presentation / 3 local) 4

9. Deladoëy J, Oligny LL, Payot A, Laberge S, Parma J, Vassart G, Van Vliet G. Lethal respiratory failure and 5 mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TTF1 gene. 6 Presented at the Pediatric Academic Societies Meeting, May 5th-8th 2007, Toronto, Canada. (poster / 7 international) 8

10. Deladoëy J, Vuissoz JM. In silico analysis of the growth hormone – growth hormone receptor interaction 9 (P2-387). Presented at the Endocrine Society’s 89th Annual Meeting (Endo 07), June 2nd-5th 2007, Toronto, 10 Canada; and presented at the 5th Annual National Symposium of the CCHCSP (Canadian Child Health 11 Clinician Scientist Program), October 12th-164h 2007, Montreal, Canada. (posters / international) 12

11. Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Pohlenz J, Van Vliet G. Pseudodominant inheritance 13 of congenital thyroid dyshormonogenesis from TPO mutations in a non-consanguineous family: clinical, 14 genetic and in silico studies. Oral presentation at 19th Annual Meeting of the Canadian Pediatric Endocrine 15 Group, April 19th-22nd, Hamilton, Canada; And presented and nominated for a President's Poster Award at 16 the 46th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), June 27th-30th 2007, 17 Helsinki,Finland. (poster / international) 18

12. Deladoëy J. Non-Mendelian mechanisms of congenital hypothyroidism from thyroid dysgenesis. Presented 19 at the Annual Meeting of the AMSPDC / PSDP (Pediatric Scientist Development Program), March 6th -9th, 20 2008, Santa-Fe, New Mexico, USA. (poster / international) 21

13. Abu-Khudir R, Paquette J, Deal C, Van Vliet G, Deladoëy J. Non-Mendelian mechanisms of congenital 22 hypothyroidism from thyroid dysgenesis. Presented at CCHCSP (Canadian Child Health Clinician Scientist 23 Program), 6th Annual Meeting, October 17th -19th, 2008, Edmonton, Canada. (oral presentation / national) 24

14. Stoppa-Vaucher S, Francoeur D, Grignon A, Van Vliet G, Deladoëy J. A 19-weeks fetus with non-immune 25 hypothyroidism and goiter: treatment or observation? Presented at the 2009 CPEG (Canadian Pediatric 26 Endocrine Group) Scientific Meeting, February 26th-28th, 2009, Ottawa, Canada. (oral presentation 27 /national); and 8th Joint Meeting of the LWPES/ESPE, September 9-12, 2009 , New York City, NY (poster 28 P03-343 /international) 29

15. Abu-Khudir R, Paquette J, Libert F, Chanoine JP, Vassart G, Van Vliet G, Deladoëy J. Role of Genetic and 30 Epigenetic Alterations in Thyroid Dysgenesis: A Combined Analysis of Transcriptome, Methylome and 31 Structural Genome Variants in Ectopic versus Orthotopic Thyroid Tissues. New Inroads to Child Health 32 (NICHe) Conference 2009, Child Health and Epigenetics, Developmental Plasticity and Programming 33 (Sponsors: ESPE, Växhuset Foundation for Children, Nature Publishing Group), May 15th-17th, 2009, 34 Göteborg, Sweden; Poster Presentation at ENDO 09 (P1-80), The Endocrine Society's 91st Annual 35 Meeting, June 10-13 in Washington, DC. (Invited to the ENDO 09 Presidential Poster Competition); Gordon 36 Research Conference on Cell Contact & Adhesion, June 28th-July 3rd, 2009, Waterville Valley, NH, USA. (3x 37 posters / international) 38

16. Leblicq C, Rottembourg D, Deladoëy J, Van Vliet G, Deal C. Are Guidelines for Glucocorticoid Coverage in 39 Adrenal Insufficiency Being Followed? 8th Joint Meeting of the LWPES/ESPE, September 9-12, 2009, New 40 York City, NY (poster P01-019, international) 41

17. Stoppa-Vaucher S, Paquette J, Vuissoz JM, Deladoëy J, Francoeur D, Deal C. 46XY Gonadal Dysgenesis: 42 Y sperm are not created equal! Canadian Society of Endocrinology and Metabolism (CSEM) Annual 43 Meeting, October 17, 2009, Montreal, Canada. (oral/national) 44

18. Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Van Vliet G, Deladoëy J. 45 Identification of new candidate genes associated with congenital hypothyroidism from thyroid ectopy by 46 integrated molecular profiling (miRNA profile added). Presented at CCHCSP (Canadian Child Health 47 Clinician Scientist program) 7th Annual Meeting, October 16th -18th, 2009, Halifax, Canada. 48 (poster/national) 49

19. Abu-Khudir R, Paquette J, Libert F, Chanoine JP, Vassart G, Deladoëy J. Identification of new candidate 50 genes associated with congenital hypothyroidism from thyroid ectopy by integrated molecular profiling. 51 Invited to the Eighth Annual New Principal Investigators Meeting / CIHR, November 6-8, 2009 Jackson's 52 Point, ON (accepted poster, national) 53

20. Grignon A, Rypens F, Francoeur D, Van Vliet G, Stoppa-Vaucher S, Deladoëy J. Le goître foetal, une 54 question de taille. Société Canadienne Française de Radiologie, Annual Meeting, November 13-15, 2009, 55 Montreal , Canada. (oral/local) 56

21. Stoppa-Vaucher S, Francoeur D, Grignon A, Alos N, Pohlenz J, Van Vliet G, Deladoëy J. Un foetus de 19 57 semaines avec hypothyroïdie non-immune et un goiter: doit-on traiter ou observer? Resident Annual 58 Meeting / CHU Sainte-Justine, February 24th, 2010, Montreal, Canada. (oral/local) 59

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22. Leblicq C, Rottembourg D, Deladoëy J, Van Vliet G, Deal C. Les protocols d’adaptation des 1 glucocorticoïdes en situation de stress dans l’insuffisance surrénalienne sont-ils appliqués. Resident Annual 2 Meeting / CHU Sainte-Justine, February 24th, 2010, Montreal, Canada. (oral/local) 3

23. Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoëy J. Identification of new 4 candidate genes associated with defective thyroid migration by expression profiling. Annual Meeting of the 5 Students in Biochemistry, March 12, 2010, University of Montreal, Montreal, Canada. (poster/local) 6

24. Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoëy J. Identification of new 7 candidate genes associated with defective thyroid migration by expression profiling. Annual Meeting of the 8 Students of the Research Center of the CHU Sainte-Justine, May 26, 2010, CHU Sainte-Justine, Montreal, 9 Canada. (poster/local) 10

25. Decaussin-Petrucci M, Sassolas G, Hafdi-Nejjari Z, Berger N, Sturm N, Laverriere MH, Dumollard JM, 11 Scoazec JY, Poulet A, Deladoëy J, Borson-Chazot F, Sartelet H. Expresssion of CD 133+, a cancer stem 12 cell marker, in differentiated thyroid cancers of children and young adults. 14th International Thyroid 13 Congress, September 11-16, 2010, Paris, France. (poster-discussion workshop / international). 14

26. Stoppa-Vaucher S, Van Vliet G, Deladoëy J. Variation by Ethnicity in the Prevalence of Congenital 15 Hypothyroidism due to Thyroid Dysgenesis. European Society for Pediatric Endocrinology (ESPE), 49th 16 Annual Meeting, September 22-24, 2010, Prague, Czech Republic. (poster/international) 17

27. Stoppa-Vaucher S, Paquette J, Vuissoz JM, Deladoëy J, Francoeur D, Deal C. Familial 46XY Complete 18 Gonadal Dysgenesis – Mosaic in Sperm. European Society for Pediatric Endocrinology (ESPE), 49th Annual 19 Meeting, September 22-24, 2010, Prague, Czech Republic. (poster/international) 20

28. Saint-Vil D, Saavedra J, Huot C, Boivin Y, Van Vliet G, Deal C, Alos N, Deladoëy J. Ultrasonography(US) 21 Is Useful In Predicting Thyroid Cancer In Children With Thyroid Nodules And Apparently Benign 22 Cytopathologic Features. Canadian Association of Pediatric Surgeons, Annual Meeting, 23-26 September, 23 2010, Saskatoon, Canada. (poster/national) 24

29. Hitz MP, Opitz R, Abu-Kuhdir R, Vandernoot I, Paquette J, Desilets V, Costagliola S, Andelfinger G, 25 Deladoëy J. Copy number variation in patients with combined congenital thyroid and heart defects. 26 German Society of Human Genetics, 22th Annual Meeting, 16-18 March, 2011, Regensburg, Germany 27 (poster/national); European Society for Pediatric Endocrinology (ESPE), 50th Annual Meeting, 25-28 28 September 2011, Glasgow, UK (poster, international) 29

• Nominated for the President Poster Award at the ESPE 50th Annual Meeting, 25-28 September 30 2011, Glasgow, UK. 31

30. Deladoëy J, Ruel J, Giguère Y, Van Vliet G. Lowering thyrotropin cutoff for newborn screening: Additional 32 cases of congenital hypothyroidism are identified, but what do they really have? Canadian Pediatric 33 Society, 88th Annual Meeting, 15-18 June 2011, Québec City, Canada (ORAL/national); The Endocrine 34 Society's 93rd Annual Meeting, June 4-7 2011 in Boston (poster/international); AND Canadian Pediatric 35 Endocrine Group (CPEG) Annual Meeting, 10-12 February 2011, Toronto, Canada (poster/national) 36

31. Wildi-Runge S, Deladoëy J, Bélanger C, Deal C, Van Vliet G, Alos N, Huot C. Can recovery from 37 hypoyhalamic-pituitary-adrenal (HPA) axis suppression following supraphysiological doses of 38 glucocorticoids be predicted? Canadian Pediatric Society, 88th Annual Meeting, 15-18 June 2010, Québec 39 City, Canada (ORAL/national); The Endocrine Society's 93rd Annual Meeting, June 4-7 in Boston 40 (poster/international**); AND Canadian Pediatric Endocrine Group (CPEG) Annual Meeting, 10-12 41 February 2011, Toronto, Canada (poster/national) 42

• Highlighted by an editorial in Endocrine Today 43 • **Presidential Poster Competition Award for best poster presentation at The Endocrine Society's 44

93rd Annual Meeting, June 4-7 2011, Boston, MA. 45 32. Abu-Khudir R, Paquette J, Deladoëy J. Epigenetic regulation of the human transcription factor-2 46

TITF2/FOXE1 gene. Annual Meeting of the Students of the Research Center of the CHU Sainte-Justine, 47 May, 2011, CHU Sainte-Justine, Montreal, Canada. (poster/local) 48

33. Vandernoot I, Hitz MP, Van Vliet G, Costagliola S, Andelfinger G, Deladoëy J. Copy number variants 49 associated with congenital hypothyroidism from thyroid ectopy. Annual Meeting of the Students of the 50 Research Center of the CHU Sainte-Justine, May, 2011, CHU Sainte-Justine, Montreal, Canada. 51 (poster/local). 52

34. Abu-Khudir R, Magne F, Deladoëy J. Epigenetic control of FOXE1 expression in humans. The Endocrine 53 Society's 94th Annual Meeting, 23-26 June 2012, Houston TX-USA (ENDO 2012) (poster / international). 54

• Nominated for Presidential Poster Competition Award for best poster presentation. 55 35. Samuels ME, Gallo-Payet N, Chouinard L, Hasselmann C, Magne F, Patry L, Pinard S, Jeremy 56

Schwartzentruber J, Djemli A, Delvin E, Deal CL, Van Vliet G, Majewski J, Deladoëy J. Isolated 57 glucocorticoid deficiency caused by immunoreactive but biologically inactive ACTH. The 51st Annual 58 Meeting, European Society for Pediatric Endocrinology (ESPE), 20-23 September 2012, Leipzig, Germany 59 (oral - PLENARY SESSION / international). 60

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• 2012 Henning Andersen Prize of Best Clinical Abstract of the European Society for Pediatric 1 Endocrinology (ESPE). 2

36. Michaud S, Sharkia M, Berthier MT, Giguère Y, Metzger D, Stewart L, Deal C, Deladoëy J, Chanoine JP, 3 Van Vliet G. No evidence for Central Hypothyroidism at Birth in Prader-Willi Syndrome (PWS). The 51st 4 Annual Meeting, European Society for Pediatric Endocrinology (ESPE), 20-23 September 2012, Leipzig, 5 Germany (poster / international). 6

37. Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, 7 Djemli A, Delvin E, René P, Bouvier M, Metherell LA, Clark AJL, Huot C, Deal CL, Van Vliet G, Majewski J, 8 Deladoëy J. Clinical diagnosis and revised treatment of a patient with POMC mutations and atypical 9 presentation by whole exome sequencing. Journées Génétiques du Réseau de Médecine Génétique 10 Appliquée, 22-24 May 2012, Montréal, Canada (ORAL PRESENTATION / local). 11

38. Deladoëy J, Gallo-Payet N, Pinard S, Djemli A, René P, Bouvier M, Deal CL, Van Vliet G, Majewski J, 12 Samuels ME. Déficience en glucocortocoïdes cause par une ACTH bioinactive mais immunoréactive. The 13 54th Annual Meeting of the Club de Recherche Clinique du Québec (CRCQ), 11-13 October 2012, Orford 14 QC, Canada (poster / provincial). 15

39. Samuels M, Hasselmann C, Majewski, Deal C, Huot C, Van Vliet G, Deladoëy J. Exome sequencing in a 16 pediatric endocrinology service. The 12th International Symposium on Mutation in the Genome, 22-26 April 17 2013, Lake Louise AB, Canada (ORAL PRESENTATION / international). 18

40. Abu-Khudir R, Magne F, Deladoëy J. Epigenetic control of FOXE1 expression in humans. XXVIIIe Graduate 19 Student Congress of the Research Center of the CHU Sainte-Justine, 30 May 2013 (ORAL PRESENTATION / 20 local). 21

• Award for the best oral presentation by a PhD student. 22 41. Deladoëy J, Henderson M, Geoffroy L. Linear association between household income and metabolic 23

control in children with insulin-dependent diabetes mellitus in spite of free access to health care .The 9th 24 Joint Meeting of European Society for Pediatric Society (ESPE), the Pediatric Endocrine Society (PES), the 25 Australasian Peadiatric Endocrine Group (APEG), the Asia Pacific Endocrine Society (APPES), the Japanese 26 Society for Pediatric Endocrinology (JSPE) and the Latin American Society of Pediatric Endocrinology 27 (SLEP), 19-22 September 2013, Milan, Italy (ORAL PRESENTATION / international) 28

42. Hasselmann C, Samuels M, Majewski J, Deal C, Huot C, Van Vliet G, Deladoëy J. Diagnostic mysteries 29 solved by exome sequencing. The 9th Joint Meeting of European Society for Pediatric Society (ESPE), the 30 Pediatric Endocrine Society (PES), the Australasian Peadiatric Endocrine Group (APEG), the Asia Pacific 31 Endocrine Society (APPES), the Japanese Society for Pediatric Endocrinology (JSPE) and the Latin 32 American Society of Pediatric Endocrinology (SLEP), 19-22 September 2013, Milan, Italy (Poster / 33 international) 34

• Nominated for Presidential Poster Competition Award for best poster presentation. 35 43. Manousaki D. Magne F, Van Vliet G, Samuels ME, Bui H, Deladoëy J. Thyroid ectopy in mother and 36

daughter. Canadian Pediatric Endocrine Group (CPEG) Annual Meeting, 20-22 February 2013, Montreal, 37 Canada (ORAL PRESENTATION / national). 38

44. Magne F, Abu-Khudir R, Carré A, Larrivée-Vanier S, Van Vliet G, Samuesl ME, Polak M, Deladoëy J. Un 39 polymorphisme dans la region promotrice de FOXE1 est fonctionnellment associé à l’hypothyroïdie 40 congénitale par ectopie thyroïdienne. The 29th Graduate Student Congress of the Research Center of the 41 CHU Sainte-Justine, 29 May 2014, Montreal, Canada (Poster / AWARDED / local) 42

45. Meijer IA, Michaud J, Luan T, Rossignol E, Van Vliet G, Deladoëy J, Chouinard S, Bernard G. Novel 43 mutations in TITF1 cause benign hereditary chorea, hypothyroidism and neonatal respiratory syndrome. 44 2014 Child Neurology Society Annual Meeting, 22-25 October 2014, Columbus, OH (Poster / international) 45 Ann Neurol 2014; 76 (Supp): S223-S224. 46

46. Magne F, Larrivée-Vanier S, Carré A, Abu-Khudir R, Van Vliet G, Samuels M, Polak M, Deladoëy J. 47 Genetic evidence for deficient cell directed migration in children with sublingual thyroid ectopy, the 48 commonest cause of congenital hypothyroidism. Gordon Conference, Cell directed migration, 25-30 49 January 2015, Galveston TX. (Poster / international) 50

47. Perlstyn M, Deladoëy J, Van Vliet G. Is the dose of levothyroxine required to reach a euthyroid state 51 really higher in school-aged children with congenital vs acquired hypothyroidism. 2015 Pediatric Academic 52 Societies’ (PAS) Meeting 2015 (Poster / international). 53

48. Capo-chichi J, Hasselmann C, Deladoëy J, Schwartzentruber J, Majewski J, Van Vliet G, Samuels M. 54 GOLIATH, a variant of DAVID syndrome, is associated with an intronic variant in IKBKE. 2015 Pediatric 55 Academic Societies’ (PAS) Meeting 2015 (Poster / international). 56

49. Bourdet K, Valette S, Deladoëy J, Van Vliet G. Contrasting central diabetes insipidus due to preproAVP 57 mutations: earlier onset of symptoms in recessive than in dominant forms. The 54th Annual Meeting, 58 European Society for Pediatric Endocrinology (ESPE), 1-3 October 2015, Barcelona, Spain. (Poster / 59 international). 60

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50. Deladoëy J, Vuissoz JM. Quiz FMH 64: Syndrome des Ovaires Polykystiques. Paediatrica 2015; 1 26(5):35-36. 2 3 4

INVITED PRESENTATIONS (35) 5 1. Congenital Hypothyroidism from Thyroid Dysgenesis (CHTD): a non-Mendelian Condition? Part II: 6

Molecular Approaches. Second ESPE Workshop on Thyroid Development and its Disorder, 24-25 April 7 2008, Necker-Enfants Malades Hospital, Paris, France. (INTERNATIONAL) 8

2. Non-Mendelian mechanisms of congenital hypothyroidism from thyroid dysgenesis: role for epigenetics 9 and for de novo copy number variants? Annual Scientific Meeting of the CHU Sainte-Justine Research 10 Center, 4-5 June 2008, Saint-Adèle, Québec, Canada. (local) 11

3. Des mécanismes non‐Mendéliens sont‐ils impliqués dans les malformations congénitales de la glande 12 thyroïde? Seminar, Department of Biochemistry, Université de Montréal, 6 March 2009, Montréal, 13 Québec, Canada. (local) 14

4. Prise en charge de l’hypothyroïdie congénitale. Club de la Thyroïde Provence 2009 / Grand Sud, 12-13 15 March 2009, CHU de la Timone, Marseille, France. (INTERNATIONAL) 16

5. Symposium - Non-Mendelian Mechanisms of congenital hypothyroidism. The Endocrine Society’s 91th 17 Annual Meeting 2009 (ENDO 09), 10-13 June 2009, Washington DC, USA. (INTERNATIONAL) 18

6. Développement de la thyroïde: de l’épidémiologie à la découverte de nouveaux gènes. Réunion 19 scientifique de l’Axe de Santé Métabolique / Service de Génétique du CHU Sainte-Justine, 24 February 20 2010, Montréal, Canada. (local) 21

7. Petite taille chez l’enfant. Formation continue organisée par CSSS de la Haute-Yamaska. Jeudi 13 mai 22 2010, Grandby, Canada. (local) 23

8. Pediatric Grand Round: Normal values for thyroid functions. 29 February 2012, CHU Sainte-Justine, 24 Montréal, Canada (local) 25

9. Plenary Session – 2012 Henning Andersen Prize of Best Clinical Abstract, for the first description of a 26 biologically inactive ACTH in human. The 51st Annual Meeting, European Society for Pediatric 27 Endocrinology (ESPE), 20-23 September 2012, Leipzig, Germany (INTERNATIONAL) 28

10. Debate – Thyroid Nodules: To remove or not remove? That is the question (Con side). Canadian Pediatric 29 Endocrinology Group (CPEG) 2013 Scientific Meeting, 24-26 January 2013, Quebec City, Canada 30 (NATIONAL) 31

11. Scientific Conference of the CHU Sainte-Justine Research Center. Congenital Hypothyroidism: from 32 bedside to bench, and back. CHU Sainte-Justine, 21 March 2013, Montral, Canada (local). 33

12. Workshop for Residents in Clinical Biochemistry of CHUQ. Thyroid Hormones: norms, variations and 34 confusions. CHUQ – Laval University, 25 March 2013, Québec, Canada (provincial). 35

13. Session – Diagnostic Solved by Next Generation Sequencing: New Causes of Primary Adrenal Failure. 36 Bioinactive ACTH. The Endocrine Society’s 95th Annual Meeting 2013 (ENDO 13), 15-18 June 2013, San 37 Francisco CA, USA. (INTERNATIONAL) 38

14. Symposium - Congenital Hypothyroidism Revisted, Lecture on The Screening Programs and Epidemiology. 39 The 9th Joint Meeting of European Society for Pediatric Society (ESPE), the Pediatric Endocrine Society 40 (PES), the Australasian Peadiatric Endocrine Group (APEG), the Asia Pacific Endocrine Society (APPES), the 41 Japanese Society for Pediatric Endocrinology (JSPE) and the Latin American Society of Pediatric 42 Endocrinology (SLEP), 19-22 September 2013, Milan, Italy (INTERNATIONAL) 43

15. Workshop for Pediatricians. Interpreting laboratory results: thyroid function test in children. Société 44 Valaisanne de Médecine (CME accredited by the Swiss Society for Pediatrics - SSP), 23 September 2013, 45 Clinique Vigemed, Martigny, Switzerland (INTERNATIONAL). 46

16. Pediatric Grand Round. The use of next generation sequencing in a clinical context: is it that simple? 47 University Children’ Hospital (UKBB), University of Basel, 24 September 2013, Basel, Switzerland 48 (INTERNATIONAL) 49

17. Canadian Endocrine Resident’s Review Course 2013: Congenital Adrenal Hyperplasia. The 6th Annual 50 Canadian Endocrine Residents’ Review Course, organized by the Canadian Diabetes Association/Canadian 51 Society for Endocrinology and Metabolism as part of the Vascular 2013 Meeting, 16 October 2013, 52 Montréal, Canada (NATIONAL) 53

18. Endocrine Rounds: Congenital Hypothyroidism: from bedside to bench, and back. Montreal Children 54 Hospital, McGill University, 11 December 2013, Montreal, Canada (local) 55

19. Symposium: Update on the Genetics of Congenital Adrenal Failure. The 17th Annual Meeting of the 56 Canadian Diabetes Association – Canadian Society of Endocrinology and Metabolism (CDA/CSEM), 22-25 57 October 2014, Winnipeg, Manitoba, Canada. (NATIONAL) 58

20. Plenary Session: Charles Hollenberg Young Investigator Award’s Lecture. The 17th Annual Meeting of the 59

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Canadian Diabetes Association – Canadian Society of Endocrinology and Metabolism (CDA/CSEM), 22-25 1 October 2014, Winnipeg, Manitoba, Canada. (NATIONAL) 2

21. Session: Recent Advances in Genetics of Congenital Hypothyroidism. Canadian Pediatric Endocrinology 3 Group (CPEG) 2015 Scientific Meeting, 19-21 February 2015, Halifax, Canada (NATIONAL) 4

22. Workshop / Webinar: Whole-exome sequencing and congenital endocrine disorders: The Montreal 5 experience. The 1st Meeting of the emerging Congenital Hypothyroidism International Consortium, 6 May 6 2015, Basel, Switzerland. (INTERNATIONAL) 7

23. Seminar: Is Congenital Thyroid Dysgenesis a pure stochastic genetic event? Invited seminar at IMAGINE / 8 Necker Enfants-Malades University Hospital, Université Paris-Descartes, 8 July 2015, Paris, France. 9 (INTERNATIONAL) 10

24. Endocrine Rounds: Is Congenital Thyroid Dysgenesis a pure stochastic genetic event? Centre Hospitalier 11 Universitaire Vaudois (CHUV), Université de Lausanne, 8 September 2015, Lausanne, Suisse. 12 (INTERNATIONAL) 13

25. Summer School: Genetics of Multiple Pituitary Hormone Deficiency. The 29th Summer School of the 14 European Society for Pediatric Endocrinology (ESPE), 28-30 September 2015, Poblet Monastery, Catalonia 15 – Spain. (INTERNATIONAL) 16

26. Seminar: Congenital Hypothyroidism and Thyroid Cell Migration. Séminaire -Axe Santé Métabolique du 17 Centre de Recherche du CHU Ste-Justine, 22 June 2016, Montreal, QC, Canada (local) 18

27. Summer School: Thyroid Nodules in Children. The 30th Summer School of the European Society for 19 Pediatric Endocrinology (ESPE), 6-9 September 2016, Paris, France. (INTERNATIONAL) 20

28. Symposium: Random monoallelic expression in thyroid tissue: a role for congenital hypothyroidism, 21 thyroid cancer and autoimmunity? The 55th Annual Meeting, European Society for Pediatric Endocrinology 22 (ESPE), 10-12 September 2016, Paris, France. (INTERNATIONAL) 23

29. Plenary: ESPE Summer School Activities: view from the faculty. The 55th Annual Meeting, European 24 Society for Pediatric Endocrinology (ESPE), 10-12 September 2016, Paris, France. (INTERNATIONAL) 25

30. Seminar: Is Congenital Thyroid Dysgenesis a pure stochastic genetic event? IRIBHM – Université Libre de 26 Bruxelles, 15 September 2016, Brussels, Belgium. (INTERNATIONAL) 27

31. Symposium: Autosomal monoallelic expression in thyroid dysgenesis. The 86th Annual Meeting of the 28 American Thyroid Association (ATA), 21-25 September 2016, Denver CO, USA. (INTERNATIONAL) 29

32. Young Investigator Presentation: Association entre haplotypes du promoteur FOXE1, groupe ethnique et 30 malformation congénitale de la thyroïde. 58th Annual Meeting of the Club de Recherche Clinique du Québec 31 (CRCQ), Matinée des Chercheurs-Boursiers, 30 September 2016, Lac Delage, Québec, Canada. 32 (PROVINCIAL) 33

33. Invited – Seminar: Hypothyroïdie congénitale: génétique et épigénétique. Séminaire d’endocrinologie 34 pédiatrique et développement, Institut Pasteur, 9-10 January 2017, Paris, France. (INTERNATIONAL) 35

34. Invited – Seminar: Congenital Hypothyroidism – translational aspect. The Endocrine Society’s 100th Annual 36 Meeting 2017 (ENDO 17), 1-4 April 2017, Orlando FL, USA. (INTERNATIONAL) 37

35. Invited – Debate: Use of imaging is mandatory in NBS procedure for congenital hypothyroidism. The 10th 38 International Meeting of Pediatric Endocrinology, 14-17 September 2017, Washington DC, USA. 39 (INTERNATIONAL) 40