Alexandra Afenjar

Alexandra Afenjar

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Alexandra Afenjar

Alexandra Afenjar

Publications by authors named "Alexandra Afenjar"

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A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Eur J Med Genet 2019 Sep 25:103776. Epub 2019 Sep 25.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103776DOI Listing
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 Aug 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

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
Publisher Site
http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 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

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Am J Med Genet A 2017 Aug 9;173(8):2268-2274. Epub 2017 Jun 9.

Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.38307DOI Listing
August 2017

Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren-Larsson's Syndrome.

Neuropediatrics 2017 06 7;48(3):205-206. Epub 2017 Apr 7.

APHP, Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1055/s-0037-1601856DOI Listing
June 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Am J Med Genet B Neuropsychiatr Genet 2016 04 14;171B(3):377-82. Epub 2016 Jan 14.

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, France.

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http://dx.doi.org/10.1002/ajmg.b.32416DOI Listing
April 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Neurology 2015 Apr 3;84(17):1751-9. Epub 2015 Apr 3.

From Institut du Cerveau et de la Moelle épinière (M.C., A.B., G.S., A.D.), ICM, Paris; CNRS (M.C., A.B., G.S., A.D.), UMR 7225, Paris; Sorbonne Universités (M.C., A.B., G.S., A.D.), UPMC Univ Paris 06, UMRS_1127, Paris; INSERM (M.C., E.M., A.B., G.S., A.D.), U 1127, Paris, France; Laboratory of Human Molecular Genetics (M.C.), de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Laboratoire de Neurogénétique (M.C., G.S.), Ecole Pratique des Hautes Etudes, ICM, GHU Pitié-Salpêtrière, Paris; Centre de Référence Malformations et Maladies Congénitales du Cervelet (L.B., D.R., S.C.-B., C.R., A.A.), Paris-Lyon-Lille; INSERM U1141 (L.B., D.R.), Paris; APHP (L.B., S.C.-B.), Armand-Trousseau Hospital, Department of Genetics, Paris, France; Service de Neurologie (M.A.-B.), CHU Bab el Oued, Alger, Algeria; APHP (D.R., A.A.), Armand-Trousseau Hospital, Department of Neuropediatrics, UPMC Univ Paris 06; Hospices Civils de Lyon (C.R.), HFME, Service de Neuropédiatrie, Bron; Centre Hospitalier du Pays d'Aix (M.-A.C.), Service de Pédiatrie, Aix en Provence; APHM (M.M.), Service de neurologie pédiatrique, Hôpital de la Timone, Marseille; Service de Génétique (A.T.), Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours; Centre National de Génotypage (D.B., V.M., J.-F.D.), Institut de Génomique, CEA, Evry; APHP (A.B., D.H., A.D.), Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris; Centre de Référence Déficiences Intellectuelles de causes rares (D.H.), Paris; and Groupe de Recherche Clinique déficiences intellectuelles (D.H.), UPMC Univ Paris 06, France.

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http://dx.doi.org/10.1212/WNL.0000000000001524DOI Listing
April 2015

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

PLoS Genet 2014 Sep 4;10(9):e1004580. Epub 2014 Sep 4.

Institut Pasteur, Human Genetics and Cognitive Functions Unit, Paris, France; CNRS UMR 3571 Genes, Synapses and Cognition, Institut Pasteur, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France; FondaMental Foundation, Créteil, France.

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http://dx.doi.org/10.1371/journal.pgen.1004580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154644PMC
September 2014

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

Retinal involvement in two unrelated patients with Myhre syndrome.

Eur J Med Genet 2012 Oct 7;55(10):541-7. Epub 2012 Jun 7.

Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié Salpêtrière, APHP 47-83, boulevard de l'hôpital, 75651 Paris cedex 13, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.05.006DOI Listing
October 2012

Deletion of filamin A in two female patients with periventricular nodular heterotopia.

Am J Med Genet A 2012 Jun 20;158A(6):1512-6. Epub 2012 Apr 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35409DOI Listing
June 2012

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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http://dx.doi.org/10.1007/s10545-011-9358-9DOI Listing
January 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

J Neurol Sci 2012 Jan 26;312(1-2):123-6. Epub 2011 Aug 26.

Génétique, Reproduction et Développement, Unité Mixte de Recherche 931 (Institut National de la Santé et de la Recherche médicale), Faculté de médecine, Clermont-Ferrand, France.

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http://dx.doi.org/10.1016/j.jns.2011.08.006DOI Listing
January 2012

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Clin Dysmorphol 2012 Jan;21(1):11-4

Département de Génétique et Cytogénétique et Centre de référence 'déficiences intellectuelles de causes rares', Groupe Hospitalier Pitié-Salpêtrière, Tours, France.

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http://dx.doi.org/10.1097/MCD.0b013e32834af5a7DOI Listing
January 2012

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

Spectrum of epilepsy in terminal 1p36 deletion syndrome.

Epilepsia 2008 Mar 21;49(3):509-15. Epub 2007 Nov 21.

Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, Université Paris V, Paris, France, and INSERM, U663, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01424.xDOI Listing
March 2008

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Pediatr Neurol 2007 Oct;37(4):270-4

Assistance Publique-Hopitaux de Paris, Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.002DOI Listing
October 2007