69Publications
PLoS One 2020 17;15(12):e0244508. Epub 2020 Dec 17.
Genet Med 2020 Oct 20. Epub 2020 Oct 20.
Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
Biomolecules 2020 09 12;10(9). Epub 2020 Sep 12.
Department of Cancer Biology, Mayo Clinic, Jacksonville, FL 32224, USA.
Curr Diab Rep 2020 07 30;20(9):44. Epub 2020 Jul 30.
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.
Clin Dysmorphol 2020 Oct;29(4):182-185
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Am J Med Genet A 2020 08 28;182(8):1952-1956. Epub 2020 May 28.
Eur J Hum Genet 2020 09 15;28(9):1196-1204. Epub 2020 May 15.
J Med Genet 2020 Dec 14;57(12):808-819. Epub 2020 May 14.
Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.
PLoS One 2020 8;15(5):e0232990. Epub 2020 May 8.
Am J Med Genet A 2020 07 22;182(7):1776-1779. Epub 2020 Apr 22.
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Eur J Hum Genet 2020 07 6;28(7):943-946. Epub 2020 Mar 6.
Am J Med Genet A 2020 05 26;182(5):1041-1052. Epub 2020 Feb 26.
Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Am J Med Genet A 2020 05 25;182(5):1201-1208. Epub 2020 Feb 25.
The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
J Clin Endocrinol Metab 2020 01;105(1)
Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida.
Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681
Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Eur J Endocrinol 2020 Jan;182(1):47-56
Exp Suppl 2019 ;111:419-441
Obesity Center CGG, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Obes Facts 2019 19;12(4):369-384. Epub 2019 Jun 19.
Obesity Center CGG (Centrum Gezond Gewicht), Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands,
Reprod Toxicol 2019 08 8;87:125-139. Epub 2019 Jun 8.
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Mol Genet Genomic Med 2019 06 4;7(6):e00632. Epub 2019 May 4.
Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Ned Tijdschr Geneeskd 2019 03 21;163. Epub 2019 Mar 21.
Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.
Obes Rev 2019 06 1;20(6):795-804. Epub 2019 Mar 1.
Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Eur J Hum Genet 2019 05 24;27(5):738-746. Epub 2019 Jan 24.
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Metabolism 2019 03 9;92:26-36. Epub 2019 Jan 9.
Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location Academic Medical Center, Amsterdam, the Netherlands. Electronic address:
Dis Model Mech 2018 10 18;11(10). Epub 2018 Oct 18.
Hubrecht Institute-KNAW and UMC Utrecht, 3584 CT Utrecht, the Netherlands
Am J Med Genet A 2018 11 20;176(11):2456-2459. Epub 2018 Sep 20.
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Hypertens Res 2018 Nov 12;41(11):981-988. Epub 2018 Sep 12.
Department of Genetics, Center for Molecular Medicine,University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Pediatr Nephrol 2018 10 5;33(10):1701-1712. Epub 2018 Jul 5.
Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
J Med Genet 2018 09 3;55(9):578-586. Epub 2018 Jul 3.
Am J Med Genet A 2018 05;176(5):1128-1136
Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Clin Dysmorphol 2018 Jul;27(3):78-83
Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.
BMJ Case Rep 2017 Sep 25;2017. Epub 2017 Sep 25.
Pediatric Endocrinology - Obesity Center CGG, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.
J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
J Biol Chem 2017 05 16;292(19):7904-7920. Epub 2017 Mar 16.
From the Division of Pediatrics, Wilhelmina Children's Hospital,
Hum Genet 2017 04 10;136(4):463-479. Epub 2017 Mar 10.
AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.
J Clin Invest 2017 Mar 13;127(3):1005-1018. Epub 2017 Feb 13.
Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Hum Mol Genet 2016 06 22;25(11):2158-2167. Epub 2016 Mar 22.
Department of Genetics
Am J Med Genet A 2016 09 23;170(9):2431-5. Epub 2016 Jun 23.
Department of Medical Genetics, University Medical Centre, Utrecht, The Netherlands.
Am J Hum Genet 2016 May 14;98(5):963-970. Epub 2016 Apr 14.
Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:
Eur J Hum Genet 2016 08 9;24(9):1363-6. Epub 2016 Mar 9.
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Case Rep Genet 2016 31;2016:2861653. Epub 2016 Jan 31.
Department of Genetics, Wilhelmina Children's Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands.
Am J Med Genet A 2016 06 19;170(6):1566-9. Epub 2016 Feb 19.
Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Genet Med 2016 09 4;18(9):949-56. Epub 2016 Feb 4.
Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
Eur J Hum Genet 2015 Sep;23(9):1270
PLoS One 2015 29;10(6):e0131417. Epub 2015 Jun 29.
Section of Investigative Medicine, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Imperial College London, London, United Kingdom.
Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.
NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Cilia 2015 1;4. Epub 2015 Jun 1.
Department of Nephrology and Hypertension, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, Netherlands.
Am J Hum Genet 2015 May 30;96(5):784-96. Epub 2015 Apr 30.
Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address:
Eur J Hum Genet 2015 Sep 26;23(9):1176-85. Epub 2014 Nov 26.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
J Pediatr Genet 2014 Jun;3(2):79-88
Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.
Eur J Hum Genet 2015 Jan 30;23(1):135-8. Epub 2014 Apr 30.
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Mol Genet Genomic Med 2014 Mar 12;2(2):134-7. Epub 2013 Dec 12.
Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.
Am J Med Genet A 2014 Jan 20;164A(1):29-35. Epub 2013 Nov 20.
Am J Med Genet A 2014 Jan 15;164A(1):194-8. Epub 2013 Nov 15.
Am J Med Genet A 2013 Dec 24;161A(12):3012-7. Epub 2013 Sep 24.
Institute of Human Genetics, University Hospital Magdeburg, Germany.
Eur J Hum Genet 2013 Jan 13;21(1):55-61. Epub 2012 Jun 13.
Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.
Am J Physiol Endocrinol Metab 2012 Jul 24;303(1):E103-10. Epub 2012 Apr 24.
Metabolic Diseases Institute, University of Cincinnati, Cincinnati, OH, USA.
J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.
Am J Med Genet A 2011 Dec 14;155A(12):3060-2. Epub 2011 Oct 14.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.
Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.
Am J Med Genet A 2011 May 4;155A(5):1192-5. Epub 2011 Apr 4.
Department of Genomics of Common Disease, Imperial College London, Hammersmith Hospital Campus, UK.
Hum Mol Genet 2009 Sep 4;18(17):3257-65. Epub 2009 Jun 4.
Section of Genomic Medicine, Imperial College London, Hammersmith Hospital Campus, London, UK.
Am J Med Genet A 2009 Feb;149A(4):833-4
Am J Med Genet A 2007 Dec;143A(24):3194-203
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom.
Am J Med Genet A 2006 Aug;140(16):1726-36
Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand.
Am J Med Genet A 2005 Nov;139(1):40-4
Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands.
Nat Genet 2004 Sep 15;36(9):989-93. Epub 2004 Aug 15.
Department of Molecular Biology and Biochemistry, Simon Fraser University, 8888 University Drive, Burnaby, B.C. V5A 1S6, Canada.