Bertrand Isidor

Bertrand Isidor

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Bertrand Isidor

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Clinical and molecular spectrum of non-syndromic early-onset osteoarthritis.

Arthritis Rheumatol 2020 Jun 8. Epub 2020 Jun 8.

Département de Génétique Médicale, Maladies rares et médecine personnalisée, Centre de compétence maladies osseuses, Univ Montpellier, CHU Montpellier, CLAD Sud Languedoc-Roussillon, Montpellier, France.

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http://dx.doi.org/10.1002/art.41387DOI Listing
June 2020

-associated neurodevelopmental disorder.

J Med Genet 2020 Jun 16. Epub 2020 Jun 16.

Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2019-106756DOI Listing
June 2020

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.

Stem Cell Res 2020 03 31;43:101696. Epub 2019 Dec 31.

IRMB, Univ Montpellier, INSERM, CHU Montpellier, Montpellier France; Laboratory of Genome and Stem Cell Plasticity in Development and Aging, INSERM UMR1183, Montpellier, France; SAFE-iPSC Facility INGESTEM, CHU de Montpellier, Montpellier, France; Department of Medical Genetics, CHU Nantes, Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101696DOI Listing
March 2020

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

Eur J Med Genet 2019 Dec 22;62(12):103586. Epub 2018 Nov 22.

CHU Nantes, Service de Génétique Médicale, Nantes, France; INSERM, UMR 1238, Bone Sarcoma and Remodeling of Calcified Tissue, Nantes, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.11.020DOI Listing
December 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2019 12 23;181(4):509-518. Epub 2019 Oct 23.

Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.31746DOI Listing
December 2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clin Genet 2019 10 25;96(4):309-316. Epub 2019 Jun 25.

Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13591
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http://dx.doi.org/10.1111/cge.13591DOI Listing
October 2019

Population genetic screening: current issues in a European country.

Eur J Hum Genet 2019 09 8;27(9):1321-1323. Epub 2019 May 8.

INSERM U1086, Anticipe, Normandie Université, 3 avenue du Général Harris, F-14076, Caen, France.

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http://dx.doi.org/10.1038/s41431-019-0425-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777526PMC
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 08 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

J Hum Genet 2019 Jul 8;64(7):689-694. Epub 2019 May 8.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, France.

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http://dx.doi.org/10.1038/s10038-019-0615-3DOI Listing
July 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant.

J Obstet Gynaecol 2019 Apr 12;39(3):395-397. Epub 2018 Jun 12.

b Service de Génétique Médicale, CHU Nantes , Nantes Cedex , France.

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http://dx.doi.org/10.1080/01443615.2018.1454415DOI Listing
April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Oro-dental phenotype in patients with RUNX2 duplication.

Eur J Med Genet 2019 Feb 29;62(2):85-89. Epub 2018 May 29.

Service d'Odontologie Conservatrice et Pédiatrique, Centre de compétences Malformations orales et dentaires rares, CHU de Nantes, France; Département D'Odontologie Pédiatrique, UFR Odontologie, Université de Nantes, France; Unité d'Investigation Clinique Odontologie (UIC), France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.019DOI Listing
February 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://doi.wiley.com/10.1111/cge.13415
Publisher Site
http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Am J Med Genet A 2018 07 28;176(7):1614-1617. Epub 2018 Apr 28.

Service de Génétique Médicale, CHU de Nantes, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.38690DOI Listing
July 2018

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Familial deep endometriosis: A rare monogenic disease?

Eur J Obstet Gynecol Reprod Biol 2018 Feb 5;221:190-193. Epub 2017 Dec 5.

Service de Gynécologie-obstétrique et médecine de la Reproduction, CHU, Nantes, France.

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http://dx.doi.org/10.1016/j.ejogrb.2017.11.025DOI Listing
February 2018

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurol Genet 2018 Feb 26;4(1):e210. Epub 2018 Jan 26.

Center for Biomedical Research (E.P.P., G.V.D.F.), Faculty of Biological Sciences and Faculty of Medicine, Universidad Andres Bello, Santiago, Chile; Stanley Center for Psychiatric Genetics (E.S., D.L.), Broad Institute of MIT and Harvard, Cambridge, MA; the Analytic and Translational Genetics Unit (E.S., D.L.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA; Molecular Immunology Unit (M.R.), Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium; Cologne Center for Genomics (P.N., D.L.), University of Cologne, Germany; Service de Génétique Médicale (B.I.), CHU Hôtel Dieu, France; and Department of Neuropediatrics (B.A.N.), University Medical Clinic Giessen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820601PMC
February 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

[Should the knowledge be imperative? The key challenge of high throughput genetics].

Med Sci (Paris) 2017 Nov 4;33(11):1001-1002. Epub 2017 Dec 4.

Service de génétique médicale, Unité de génétique clinique, CHU Hôtel Dieu, 1, place Alexis Ricordeau, 44093 Nantes, France.

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http://dx.doi.org/10.1051/medsci/20173311019DOI Listing
November 2017

Novel KCNB1 mutation associated with non-syndromic intellectual disability.

J Hum Genet 2017 Apr 8;62(5):569-573. Epub 2016 Dec 8.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.154DOI Listing
April 2017

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.

J Med Case Rep 2017 Mar 24;11(1):78. Epub 2017 Mar 24.

Service de Génétique Médicale, Hôpital Hôtel-Dieu, CHU de Nantes, 1 place Alexis Ricordeau, 44093, Nantes, France.

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http://dx.doi.org/10.1186/s13256-017-1231-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364588PMC
March 2017

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Eur J Hum Genet 2016 12 6;24(12):1746-1751. Epub 2016 Jul 6.

Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2016.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117933PMC
December 2016

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

J Neuropathol Exp Neurol 2016 12;75(12):1155-1159

From the Department of Neurology and 'Centre de Référence des neuropathies rares', University Hospital (CHU) Limoges, Limoges, France (JMV, LM and LR); Department of Medical Genetics, University Hospital (CHU) Nantes, Nantes, France (MN, BI and BC); Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland (AM); Centre de Référence des Maladies Neuromusculaires, Hôtel Dieu Hospital, Nantes, France (YP); The Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (RO); CNRS, CRN2M-UMR 7286, Aix-Marseille University, Marseille, France (JD); Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida (SZ); Department of Neurology, Nerve-Muscle Unit, University Hospital (CHU) Pellegrin, Bordeaux, France (SM).

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http://dx.doi.org/10.1093/jnen/nlw093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394372PMC
December 2016

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

Am J Med Genet A 2016 09 5;170(9):2466-70. Epub 2016 Jul 5.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.37837DOI Listing
September 2016