Sandra Mercier

Sandra Mercier

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Sandra Mercier

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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 2020 Jan 29;87(2):100-112. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

FAM111B Mutation Is Associated With Pancreatic Cancer Predisposition.

Authors:
Sandra Mercier Sébastien Küry Sophie Nahon Emmanuelle Salort-Campana Sébastien Barbarot Stéphane Bézieau

Pancreas 2019 May/Jun;48(5):e41-e42

Service de Génétique Médicale CHU de Nantes Nantes, France L'institut du Thorax, INSERM, CNRS, UNIV Nantes Nantes, France Service Hématologie-Oncologie Centre Hospitalier du Pays d'Aix Aix-en-Provence, France Service de Neurologie Centre de Référence des Maladies Neuromusculaires PACA-Réunion-Rhône Alpes FILNEMUS CHU Hôpital de la Timone Marseille, France Clinique Dermatologique CHU de Nantes Nantes, France Service de Génétique Médicale CHU de Nantes Nantes, France L'institut du Thorax, INSERM, CNRS UNIV Nantes Nantes, France.

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http://dx.doi.org/10.1097/MPA.0000000000001303DOI Listing
September 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Authors:
Lucilla Pizzo Matthew Jensen Andrew Polyak Jill A Rosenfeld Katrin Mannik Arjun Krishnan Elizabeth McCready Olivier Pichon Cedric Le Caignec Anke Van Dijck Kate Pope Els Voorhoeve Jieun Yoon Paweł Stankiewicz Sau Wai Cheung Damian Pazuchanics Emily Huber Vijay Kumar Rachel L Kember Francesca Mari Aurora Curró Lucia Castiglia Ornella Galesi Emanuela Avola Teresa Mattina Marco Fichera Luana Mandarà Marie Vincent Mathilde Nizon Sandra Mercier Claire Bénéteau Sophie Blesson Dominique Martin-Coignard Anne-Laure Mosca-Boidron Jean-Hubert Caberg Maja Bucan Susan Zeesman Małgorzata J M Nowaczyk Mathilde Lefebvre Laurence Faivre Patrick Callier Cindy Skinner Boris Keren Charles Perrine Paolo Prontera Nathalie Marle Alessandra Renieri Alexandre Reymond R Frank Kooy Bertrand Isidor Charles Schwartz Corrado Romano Erik Sistermans David J Amor Joris Andrieux Santhosh Girirajan

Genet Med 2019 04 7;21(4):816-825. Epub 2018 Sep 7.

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0266-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405313PMC
April 2019

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Authors:
Mathilde Pacault Marie Vincent Thomas Besnard Caroline Kannengiesser Claire Bénéteau Sébastien Barbarot Xénia Latypova Khaldia Belabbas Antonin Lamazière Norbert Winer Madeleine Joubert Stéphane Bézieau Bertrand Isidor Sandra Mercier Mathilde Nizon Stéphanie Leclerc-Mercier Smail Hadj-Rabia Fabienne Dufernez

Eur J Hum Genet 2018 12 22;26(12):1784-1790. Epub 2018 Aug 22.

Service de génétique, CHU de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1038/s41431-018-0217-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244079PMC
December 2018

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.

Authors:
Iain M Dykes Dorota Szumska Linta Kuncheria Rathi Puliyadi Chiann-Mun Chen Costis Papanayotou Helen Lockstone Christèle Dubourg Véronique David Jurgen E Schneider Thomas M Keane David J Adams Steve D M Brown Sandra Mercier Sylvie Odent Jérôme Collignon Shoumo Bhattacharya

Sci Rep 2018 Jul 11;8(1):10439. Epub 2018 Jul 11.

Department of Cardiovascular Medicine, BHF Centre of Research Excellence, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom.

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http://dx.doi.org/10.1038/s41598-018-28714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041270PMC
July 2018

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Authors:
Davor Lessel Claudia Schob Sébastien Küry Margot R F Reijnders Tamar Harel Mohammad K Eldomery Zeynep Coban-Akdemir Jonas Denecke Shimon Edvardson Estelle Colin Alexander P A Stegmann Erica H Gerkes Marine Tessarech Dominique Bonneau Magalie Barth Thomas Besnard Benjamin Cogné Anya Revah-Politi Tim M Strom Jill A Rosenfeld Yaping Yang Jennifer E Posey LaDonna Immken Nelly Oundjian Katherine L Helbig Naomi Meeks Kelsey Zegar Jenny Morton The Ddd Study Jolanda H Schieving Ana Claasen Matthew Huentelman Vinodh Narayanan Keri Ramsey Han G Brunner Orly Elpeleg Sandra Mercier Stéphane Bézieau Christian Kubisch Tjitske Kleefstra Stefan Kindler James R Lupski Hans-Jürgen Kreienkamp

Am J Hum Genet 2018 01;102(1):196

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http://dx.doi.org/10.1016/j.ajhg.2017.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777981PMC
January 2018

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Authors:
Valérie Biancalana Sophie Scheidecker Marguerite Miguet Annie Laquerrière Norma B Romero Tanya Stojkovic Osorio Abath Neto Sandra Mercier Nicol Voermans Laura Tanner Curtis Rogers Elisabeth Ollagnon-Roman Helen Roper Célia Boutte Shay Ben-Shachar Xavière Lornage Nasim Vasli Elise Schaefer Pascal Laforet Jean Pouget Alexandre Moerman Laurent Pasquier Pascale Marcorelle Armelle Magot Benno Küsters Nathalie Streichenberger Christine Tranchant Nicolas Dondaine Raphael Schneider Claire Gasnier Nadège Calmels Valérie Kremer Karine Nguyen Julie Perrier Erik Jan Kamsteeg Pierre Carlier Robert-Yves Carlier Julie Thompson Anne Boland Jean-François Deleuze Michel Fardeau Edmar Zanoteli Bruno Eymard Jocelyn Laporte

Acta Neuropathol 2017 Dec 6;134(6):889-904. Epub 2017 Jul 6.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-017-1748-0DOI Listing
December 2017

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Authors:
Marine Legendre Véronique Abadie Tania Attié-Bitach Nicole Philip Tiffany Busa Dominique Bonneau Estelle Colin Hélène Dollfus Didier Lacombe Annick Toutain Sophie Blesson Sophie Julia Dominique Martin-Coignard David Geneviève Bruno Leheup Sylvie Odent Pierre-Simon Jouk Sandra Mercier Laurence Faivre Catherine Vincent-Delorme Christine Francannet Sophie Naudion Michèle Mathieu-Dramard Marie-Ange Delrue Alice Goldenberg Delphine Héron Philippe Parent Renaud Touraine Valérie Layet Damien Sanlaville Chloé Quélin Sébastien Moutton Mélanie Fradin Aurélia Jacquette Sabine Sigaudy Lucile Pinson Pierre Sarda Anne-Marie Guerrot Massimiliano Rossi Alice Masurel-Paulet Salima El Chehadeh Xavier Piguel Montserrat Rodriguez-Ballesteros Stéphanie Ragot Stanislas Lyonnet Frédéric Bilan Brigitte Gilbert-Dussardier

Am J Med Genet C Semin Med Genet 2017 12 27;175(4):417-430. Epub 2017 Nov 27.

Service de Génétique, CHU de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.c.31591DOI Listing
December 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Authors:
Davor Lessel Claudia Schob Sébastien Küry Margot R F Reijnders Tamar Harel Mohammad K Eldomery Zeynep Coban-Akdemir Jonas Denecke Shimon Edvardson Estelle Colin Alexander P A Stegmann Erica H Gerkes Marine Tessarech Dominique Bonneau Magalie Barth Thomas Besnard Benjamin Cogné Anya Revah-Politi Tim M Strom Jill A Rosenfeld Yaping Yang Jennifer E Posey LaDonna Immken Nelly Oundjian Katherine L Helbig Naomi Meeks Kelsey Zegar Jenny Morton Jolanda H Schieving Ana Claasen Matthew Huentelman Vinodh Narayanan Keri Ramsey Han G Brunner Orly Elpeleg Sandra Mercier Stéphane Bézieau Christian Kubisch Tjitske Kleefstra Stefan Kindler James R Lupski Hans-Jürgen Kreienkamp

Am J Hum Genet 2017 Nov;101(5):716-724

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673606PMC
November 2017

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

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Authors:
Jessica Le Gall Mathilde Nizon Olivier Pichon Joris Andrieux Séverine Audebert-Bellanger Sabine Baron Claire Beneteau Frédéric Bilan Odile Boute Tiffany Busa Valérie Cormier-Daire Claude Ferec Mélanie Fradin Brigitte Gilbert-Dussardier Sylvie Jaillard Aia Jønch Dominique Martin-Coignard Sandra Mercier Sébastien Moutton Caroline Rooryck Elise Schaefer Marie Vincent Damien Sanlaville Cédric Le Caignec Sébastien Jacquemont Albert David Bertrand Isidor

Eur J Hum Genet 2017 08 14;25(8):930-934. Epub 2017 Jun 14.

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

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http://dx.doi.org/10.1038/ejhg.2017.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567159PMC
August 2017

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Authors:
Akiko Seki Taisuke Ishikawa Xavier Daumy Hiroyuki Mishima Julien Barc Ryo Sasaki Kiyomasa Nishii Kayoko Saito Mari Urano Seiko Ohno Saki Otsuki Hiroki Kimoto Alban-Elouen Baruteau Aurelie Thollet Swanny Fouchard Stéphanie Bonnaud Philippe Parent Yosaburo Shibata Jean-Philippe Perrin Hervé Le Marec Nobuhisa Hagiwara Sandra Mercier Minoru Horie Vincent Probst Koh-Ichiro Yoshiura Richard Redon Jean-Jacques Schott Naomasa Makita

J Am Coll Cardiol 2017 Jul;70(3):358-370

Department of Molecular Physiology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2017.05.039DOI Listing
July 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Authors:
Michael Alber Vera M Kalscheuer Elysa Marco Elliott Sherr Gaetan Lesca Marianne Till Gyri Gradek Antje Wiesener Christoph Korenke Sandra Mercier Felicitas Becker Toshiyuki Yamamoto Stephen W Scherer Christian R Marshall Susan Walker Usha R Dutta Ashwin B Dalal Vanessa Suckow Payman Jamali Kimia Kahrizi Hossein Najmabadi Berge A Minassian

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Authors:
Sébastien Küry Thomas Besnard Frédéric Ebstein Tahir N Khan Tomasz Gambin Jessica Douglas Carlos A Bacino William J Craigen Stephan J Sanders Andrea Lehmann Xénia Latypova Kamal Khan Mathilde Pacault Stephanie Sacharow Kimberly Glaser Eric Bieth Laurence Perrin-Sabourin Marie-Line Jacquemont Megan T Cho Elizabeth Roeder Anne-Sophie Denommé-Pichon Kristin G Monaghan Bo Yuan Fan Xia Sylvain Simon Dominique Bonneau Philippe Parent Brigitte Gilbert-Dussardier Sylvie Odent Annick Toutain Laurent Pasquier Deborah Barbouth Chad A Shaw Ankita Patel Janice L Smith Weimin Bi Sébastien Schmitt Wallid Deb Mathilde Nizon Sandra Mercier Marie Vincent Caroline Rooryck Valérie Malan Ignacio Briceño Alberto Gómez Kimberly M Nugent James B Gibson Benjamin Cogné James R Lupski Holly A F Stessman Evan E Eichler Kyle Retterer Yaping Yang Richard Redon Nicholas Katsanis Jill A Rosenfeld Peter-Michael Kloetzel Christelle Golzio Stéphane Bézieau Paweł Stankiewicz Bertrand Isidor

Am J Hum Genet 2017 04;100(4):689

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http://dx.doi.org/10.1016/j.ajhg.2017.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384094PMC
April 2017

Lessons learned from additional research analyses of unsolved clinical exome cases.

Authors:
Mohammad K Eldomery Zeynep Coban-Akdemir Tamar Harel Jill A Rosenfeld Tomasz Gambin Asbjørg Stray-Pedersen Sébastien Küry Sandra Mercier Davor Lessel Jonas Denecke Wojciech Wiszniewski Samantha Penney Pengfei Liu Weimin Bi Seema R Lalani Christian P Schaaf Michael F Wangler Carlos A Bacino Richard Alan Lewis Lorraine Potocki Brett H Graham John W Belmont Fernando Scaglia Jordan S Orange Shalini N Jhangiani Theodore Chiang Harsha Doddapaneni Jianhong Hu Donna M Muzny Fan Xia Arthur L Beaudet Eric Boerwinkle Christine M Eng Sharon E Plon V Reid Sutton Richard A Gibbs Jennifer E Posey Yaping Yang James R Lupski

Genome Med 2017 03 21;9(1):26. Epub 2017 Mar 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s13073-017-0412-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5361813PMC
March 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Authors:
Sébastien Küry Thomas Besnard Frédéric Ebstein Tahir N Khan Tomasz Gambin Jessica Douglas Carlos A Bacino William J Craigen Stephan J Sanders Andrea Lehmann Xénia Latypova Kamal Khan Mathilde Pacault Stephanie Sacharow Kimberly Glaser Eric Bieth Laurence Perrin-Sabourin Marie-Line Jacquemont Megan T Cho Elizabeth Roeder Anne-Sophie Denommé-Pichon Kristin G Monaghan Bo Yuan Fan Xia Sylvain Simon Dominique Bonneau Philippe Parent Brigitte Gilbert-Dussardier Sylvie Odent Annick Toutain Laurent Pasquier Deborah Barbouth Chad A Shaw Ankita Patel Janice L Smith Weimin Bi Sébastien Schmitt Wallid Deb Mathilde Nizon Sandra Mercier Marie Vincent Caroline Rooryck Valérie Malan Ignacio Briceño Alberto Gómez Kimberly M Nugent James B Gibson Benjamin Cogné James R Lupski Holly A F Stessman Evan E Eichler Kyle Retterer Yaping Yang Richard Redon Nicholas Katsanis Jill A Rosenfeld Peter-Michael Kloetzel Christelle Golzio Stéphane Bézieau Paweł Stankiewicz Bertrand Isidor

Am J Hum Genet 2017 Feb 26;100(2):352-363. Epub 2017 Jan 26.

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

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http://dx.doi.org/10.1016/j.ajhg.2017.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671PMC
February 2017

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Authors:
Mathilde Nizon Benjamin Cogne Jean-Michel Vallat Madeleine Joubert Jean-Michel Liet Laure Simon Marie Vincent Sébastien Küry Pierre Boisseau Sébastien Schmitt Sandra Mercier Claire Bénéteau Catherine Larrose Marianne Coste Xénia Latypova Yann Péréon Jean-Marie Mussini Stéphane Bézieau Bertrand Isidor

Eur J Hum Genet 2017 01 26;25(1):150-152. Epub 2016 Oct 26.

Service de Génétique Médicale, CHU Hôtel Dieu, France.

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http://dx.doi.org/10.1038/ejhg.2016.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159775PMC
January 2017

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.

Authors:
Sandra Mercier Xavière Lornage Edoardo Malfatti Pascale Marcorelles Franck Letournel Cécile Boscher Gaëlle Caillaux Armelle Magot Johann Böhm Anne Boland Jean-François Deleuze Norma Romero Yann Péréon Jocelyn Laporte

Neurology 2017 01 21;88(4):414-416. Epub 2016 Dec 21.

From CHU de Nantes (S.M., C.B., G.C., A.M., Y.P.); University of Nantes (S.M., Y.P.), INSERM UMR1089 (S.M.), IRS2, Nantes; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (X.L., J.B., J.L.); Centre National de la Recherche Scientifique (X.L., J.B., J.L.), UMR7104; Institut National de la Santé et de la Recherche Médicale (X.L., J.B., J.L.), U964; Université de Strasbourg (X.L., J.B., J.L.), Illkirch; Sorbonne Universités (E.M., N.R.), UPMC Univ Paris 06, INSERM UMRS974, GH La Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (E.M., N.R.), GHU La Pitié-Salpêtrière (E.M., N.R.); CHRU Brest (P.M.); EA 4586 LNB (P.M.), Université de Bretagne Occidentale, Brest; IBS (PBH-IRIS) (F.L.), CHU, Angers; and CEA (A.B., J.-F.D.), Evry, France.

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http://dx.doi.org/10.1212/WNL.0000000000003535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272967PMC
January 2017

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Authors:
Aurore Curie Amandine Brun Anne Cheylus Anne Reboul Tatjana Nazir Gérald Bussy Karine Delange Yves Paulignan Sandra Mercier Albert David Stéphanie Marignier Lydie Merle Bénédicte de Fréminville Fabienne Prieur Michel Till Isabelle Mortemousque Annick Toutain Eric Bieth Renaud Touraine Damien Sanlaville Jamel Chelly Jian Kong Daniel Ott Behrouz Kassai Nouchine Hadjikhani Randy L Gollub Vincent des Portes

PLoS One 2016 26;11(2):e0149717. Epub 2016 Feb 26.

Centre de Référence, Déficiences Intellectuelles de Causes Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0149717PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771701PMC
July 2016

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Authors:
Sébastien Küry Sandra Mercier Gasnat Shaboodien Thomas Besnard Sébastien Barbarot Nonhlanhla P Khumalo Bongani M Mayosi Stéphane Bézieau

Eur J Hum Genet 2016 May 7;24(5). Epub 2015 Oct 7.

CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France.

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http://dx.doi.org/10.1038/ejhg.2015.205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930101PMC
May 2016

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Authors:
Slavé Petrovski Sébastien Küry Candace T Myers Kwame Anyane-Yeboa Benjamin Cogné Martin Bialer Fan Xia Parisa Hemati James Riviello Michele Mehaffey Thomas Besnard Emily Becraft Alexandrea Wadley Anya Revah Politi Sophie Colombo Xiaolin Zhu Zhong Ren Ian Andrews Tracy Dudding-Byth Amy L Schneider Geoffrey Wallace Aaron B I Rosen Susan Schelley Gregory M Enns Pierre Corre Joline Dalton Sandra Mercier Xénia Latypova Sébastien Schmitt Edwin Guzman Christine Moore Louise Bier Erin L Heinzen Peter Karachunski Natasha Shur Theresa Grebe Alice Basinger Joanne M Nguyen Stéphane Bézieau Klaas Wierenga Jonathan A Bernstein Ingrid E Scheffer Jill A Rosenfeld Heather C Mefford Bertrand Isidor David B Goldstein

Am J Hum Genet 2016 05 21;98(5):1001-1010. Epub 2016 Apr 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863562PMC
May 2016

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Authors:
Bertrand Isidor Sébastien Küry Jill A Rosenfeld Thomas Besnard Sébastien Schmitt Shelagh Joss Sally J Davies Robert Roger Lebel Alex Henderson Christian P Schaaf Haley E Streff Yaping Yang Vani Jain Nodoka Chida Xenia Latypova Cédric Le Caignec Benjamin Cogné Sandra Mercier Marie Vincent Estelle Colin Dominique Bonneau Anne-Sophie Denommé Philippe Parent Brigitte Gilbert-Dussardier Sylvie Odent Annick Toutain Amélie Piton Christian Dina Audrey Donnart Pierre Lindenbaum Eric Charpentier Richard Redon Kenji Iemura Masanori Ikeda Kozo Tanaka Stéphane Bézieau

Hum Mutat 2016 Apr 4;37(4):354-8. Epub 2016 Feb 4.

Service de Génétique Médicale, CHU Nantes, Nantes CEDEX 1, 44093, France.

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http://dx.doi.org/10.1002/humu.22952DOI Listing
April 2016

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Authors:
Marie Vincent David Geneviève Agnès Ostertag Sandrine Marlin Didier Lacombe Dominique Martin-Coignard Christine Coubes Albert David Stanislas Lyonnet Catheline Vilain Anne Dieux-Coeslier Sylvie Manouvrier Bertrand Isidor Marie-Line Jacquemont Sophie Julia Valérie Layet Sophie Naudion Sylvie Odent Laurent Pasquier Sybille Pelras Nicole Philip Geneviève Pierquin Fabienne Prieur Nisrine Aboussair Tania Attie-Bitach Geneviève Baujat Patricia Blanchet Catherine Blanchet Hélène Dollfus Bérénice Doray Elise Schaefer Patrick Edery Fabienne Giuliano Alice Goldenberg Cyril Goizet Agnès Guichet Christian Herlin Laetitia Lambert Bruno Leheup Jelena Martinovic Sandra Mercier Cyril Mignot Marie-Laure Moutard Marie-José Perez Lucile Pinson Jacques Puechberty Marjolaine Willems Hanitra Randrianaivo Kateline Szakszon Kateline Szaskon Annick Toutain Alain Verloes Jacqueline Vigneron Elodie Sanchez Pierre Sarda Jean-Louis Laplanche Corinne Collet

Genet Med 2016 Jan 19;18(1):49-56. Epub 2015 Mar 19.

UF de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, Paris, France.

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http://dx.doi.org/10.1038/gim.2015.29DOI Listing
January 2016

Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.

Authors:
Sandra Mercier Armelle Magot Florence Caillon Bertrand Isidor Albert David Xavier Ferrer Anne Vital Michelle Coquet Sini Penttilä Bjarne Udd Jean-Marie Mussini Yann Pereon

Muscle Nerve 2015 Oct 3;52(4):673-80. Epub 2015 Jun 3.

Centre de Référence Maladies Neuromusculaires Nantes, Angers, Hôtel-Dieu, CHU de Nantes, 44093, Nantes cedex, France.

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http://dx.doi.org/10.1002/mus.24664DOI Listing
October 2015

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Authors:
Sandra Mercier Sébastien Küry Emmanuelle Salort-Campana Armelle Magot Uchenna Agbim Thomas Besnard Nathalie Bodak Chantal Bou-Hanna Flora Bréhéret Perrine Brunelle Florence Caillon Brigitte Chabrol Valérie Cormier-Daire Albert David Bruno Eymard Laurence Faivre Dominique Figarella-Branger Emmanuelle Fleurence Mythily Ganapathi Romain Gherardi Alice Goldenberg Antoine Hamel Jeanine Igual Alan D Irvine Dominique Israël-Biet Caroline Kannengiesser Christian Laboisse Cédric Le Caignec Jean-Yves Mahé Stéphanie Mallet Stuart MacGowan Maeve A McAleer Irwin McLean Cécile Méni Arnold Munnich Jean-Marie Mussini Peter L Nagy Jeffrey Odel Grainne M O'Regan Yann Péréon Julie Perrier Juliette Piard Eve Puzenat Jacinda B Sampson Frances Smith Nadem Soufir Kurenai Tanji Christel Thauvin Christina Ulane Rosemarie M Watson Nonhlanhla P Khumalo Bongani M Mayosi Sébastien Barbarot Stéphane Bézieau

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Clinical and electrophysiological features in a French family presenting with seipinopathy.

Authors:
Yolaine Ollivier Armelle Magot Philippe Latour Julie Perrier Sandra Mercier Thierry Maisonobe Yann Péréon

Neuromuscul Disord 2015 Feb 22;25(2):161-4. Epub 2014 Oct 22.

Centre de Référence Maladies Neuromusculaires Nantes - Angers, CHU de Nantes, Nantes, France; Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.

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http://dx.doi.org/10.1016/j.nmd.2014.10.006DOI Listing
February 2015

New insights into genotype-phenotype correlation for GLI3 mutations.

Authors:
Florence Démurger Amale Ichkou Soumaya Mougou-Zerelli Martine Le Merrer Géraldine Goudefroye Anne-Lise Delezoide Chloé Quélin Sylvie Manouvrier Geneviève Baujat Mélanie Fradin Laurent Pasquier André Megarbané Laurence Faivre Clarisse Baumann Sheela Nampoothiri Joëlle Roume Bertrand Isidor Didier Lacombe Marie-Ange Delrue Sandra Mercier Nicole Philip Elise Schaefer Muriel Holder Amanda Krause Fanny Laffargue Martine Sinico Daniel Amram Gwenaelle André Alain Liquier Massimiliano Rossi Jeanne Amiel Fabienne Giuliano Odile Boute Anne Dieux-Coeslier Marie-Line Jacquemont Alexandra Afenjar Lionel Van Maldergem Marylin Lackmy-Port-Lis Catherine Vincent-Delorme Marie-Liesse Chauvet Valérie Cormier-Daire Louise Devisme David Geneviève Arnold Munnich Géraldine Viot Odile Raoul Serge Romana Marie Gonzales Ferechte Encha-Razavi Sylvie Odent Michel Vekemans Tania Attie-Bitach

Eur J Hum Genet 2015 Jan 16;23(1):92-102. Epub 2014 Apr 16.

1] Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique -Hôpitaux de Paris (AP-HP), Paris, France [2] Inserm U1163, Hôpital Necker-Enfants Malades, Paris, France [3] Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266745PMC
January 2015

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Authors:
Patrizia Noris Nicole Schlegel Catherine Klersy Paula G Heller Elisa Civaschi Nuria Pujol-Moix Fabrizio Fabris Remi Favier Paolo Gresele Véronique Latger-Cannard Adam Cuker Paquita Nurden Andreas Greinacher Marco Cattaneo Erica De Candia Alessandro Pecci Marie-Françoise Hurtaud-Roux Ana C Glembotsky Eduardo Muñiz-Diaz Maria Luigia Randi Nathalie Trillot Loredana Bury Thomas Lecompte Caterina Marconi Anna Savoia Carlo L Balduini Sophie Bayart Anne Bauters Schéhérazade Benabdallah-Guedira Françoise Boehlen Jeanne-Yvonne Borg Roberta Bottega James Bussel Daniela De Rocco Emmanuel de Maistre Michela Faleschini Emanuela Falcinelli Silvia Ferrari Alina Ferster Tiziana Fierro Dominique Fleury Pierre Fontana Chloé James Francois Lanza Véronique Le Cam Duchez Giuseppe Loffredo Pamela Magini Dominique Martin-Coignard Fanny Menard Sandra Mercier Annamaria Mezzasoma Pietro Minuz Ilaria Nichele Lucia D Notarangelo Tommaso Pippucci Gian Marco Podda Catherine Pouymayou Agnes Rigouzzo Bruno Royer Pierre Sie Virginie Siguret Catherine Trichet Alessandra Tucci Béatrice Saposnik Dino Veneri

Haematologica 2014 Aug 24;99(8):1387-94. Epub 2014 Apr 24.

Department of Medicine and Haematology, University Hospital of Verona, Verona, Italy.

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http://dx.doi.org/10.3324/haematol.2014.105924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116839PMC
August 2014

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Authors:
Annie Laquérriere Jérome Maluenda Adrien Camus Laura Fontenas Klaus Dieterich Flora Nolent Jié Zhou Nicole Monnier Philippe Latour Damien Gentil Delphine Héron Isabelle Desguerres Pierre Landrieu Claire Beneteau Benoit Delaporte Céline Bellesme Clarisse Baumann Yline Capri Alice Goldenberg Stanislas Lyonnet Dominique Bonneau Brigitte Estournet Susana Quijano-Roy Christine Francannet Sylvie Odent Marie-Hélène Saint-Frison Sabine Sigaudy Dominique Figarella-Branger Antoinette Gelot Jean-Marie Mussini Catherine Lacroix Valerie Drouin-Garraud Marie-Claire Malinge Tania Attié-Bitach Bettina Bessieres Maryse Bonniere Ferechte Encha-Razavi Anne-Marie Beaufrère Suonary Khung-Savatovsky Marie José Perez Alexandre Vasiljevic Sandra Mercier Joelle Roume Laetitia Trestard Pascale Saugier-Veber Marie-Pierre Cordier Valérie Layet Marine Legendre Adeline Vigouroux-Castera Joel Lunardi Monica Bayes Pierre S Jouk Luc Rigonnot Michèle Granier Damien Sternberg Josiane Warszawski Ivo Gut Marie Gonzales Marcel Tawk Judith Melki

Hum Mol Genet 2014 May 6;23(9):2279-89. Epub 2013 Dec 6.

Pathology Laboratory and NeoVasc Region-Inserm Team ERI28, Institute of Research for Innovation in Biomedicine, University of Rouen, 76031 Rouen, France.

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http://dx.doi.org/10.1093/hmg/ddt618DOI Listing
May 2014

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Authors:
Sandra Mercier Sébastien Küry Gasnat Shaboodien Darren T Houniet Nonhlanhla P Khumalo Chantal Bou-Hanna Nathalie Bodak Valérie Cormier-Daire Albert David Laurence Faivre Dominique Figarella-Branger Romain K Gherardi Elise Glen Antoine Hamel Christian Laboisse Cédric Le Caignec Pierre Lindenbaum Armelle Magot Arnold Munnich Jean-Marie Mussini Komala Pillay Thahira Rahman Richard Redon Emmanuelle Salort-Campana Mauro Santibanez-Koref Christel Thauvin Sébastien Barbarot Bernard Keavney Stéphane Bézieau Bongani M Mayosi

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Authors:
Sandra Mercier Annick Toutain Aurélie Toussaint Martine Raynaud Claire de Barace Pascale Marcorelles Laurent Pasquier Martine Blayau Caroline Espil Philippe Parent Hubert Journel Leila Lazaro Jon Andoni Urtizberea Alexandre Moerman Laurence Faivre Bruno Eymard Kim Maincent Romain Gherardi Denys Chaigne Rabah Ben Yaou France Leturcq Jamel Chelly Isabelle Desguerre

Eur J Hum Genet 2013 Aug 9;21(8):855-63. Epub 2013 Jan 9.

Department of Medical Genetics, CHU Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2012.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722679PMC
August 2013

Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.

Authors:
Bertrand Isidor Tiphaine Lefebvre Sébastien Barbarot Julie Perrier Sandra Mercier Yann Péréon Cédric Le Caignec Albert David

Am J Med Genet A 2013 Jun 23;161A(6):1390-3. Epub 2013 Apr 23.

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

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http://dx.doi.org/10.1002/ajmg.a.35871DOI Listing
June 2013

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Authors:
Klaus Dieterich Susana Quijano-Roy Nicole Monnier Jie Zhou Julien Fauré Daniela Avila Smirnow Robert Carlier Cécile Laroche Pascale Marcorelles Sandra Mercier André Mégarbané Sylvie Odent Norma Romero Damien Sternberg Isabelle Marty Brigitte Estournet Pierre-Simon Jouk Judith Melki Joël Lunardi

Hum Mol Genet 2013 Apr 11;22(8):1483-92. Epub 2012 Dec 11.

Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France.

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http://hmg.oxfordjournals.org/content/early/2013/02/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds514
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http://dx.doi.org/10.1093/hmg/dds514DOI Listing
April 2013

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Authors:
Sandra Mercier Véronique David Leslie Ratié Isabelle Gicquel Sylvie Odent Valérie Dupé

Dis Model Mech 2013 Mar 20;6(2):537-43. Epub 2012 Dec 20.

Institut de Génétique et Développement, CNRS UMR6290, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, 35043 Rennes, France.

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http://dx.doi.org/10.1242/dmm.010132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597036PMC
March 2013

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Authors:
Benjamin D Solomon Kelly A Bear Adrian Wyllie Amelia A Keaton Christele Dubourg Veronique David Sandra Mercier Sylvie Odent Ute Hehr Aimee Paulussen Nancy J Clegg Mauricio R Delgado Sherri J Bale Felicitas Lacbawan Holly H Ardinger Arthur S Aylsworth Ntombenhle Louisa Bhengu Stephen Braddock Karen Brookhyser Barbara Burton Harald Gaspar Art Grix Dafne Horovitz Erin Kanetzke Hulya Kayserili Dorit Lev Sarah M Nikkel Mary Norton Richard Roberts Howard Saal G B Schaefer Adele Schneider Erika K Smith Ellen Sowry M Anne Spence Stavit A Shalev Carlos E Steiner Elizabeth M Thompson Thomas L Winder Joan Z Balog Donald W Hadley Nan Zhou Daniel E Pineda-Alvarez Erich Roessler Maximilian Muenke

J Med Genet 2012 Jul;49(7):473-9

Medical Genetics Branch, National Human Genome Research Institute, NationalInstitutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1136/jmedgenet-2012-101008DOI Listing
July 2012

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Authors:
Sandra Mercier Christèle Dubourg Nicolas Garcelon Boris Campillo-Gimenez Isabelle Gicquel Marion Belleguic Leslie Ratié Laurent Pasquier Philippe Loget Claude Bendavid Sylvie Jaillard Lucie Rochard Chloé Quélin Valérie Dupé Véronique David Sylvie Odent

J Med Genet 2011 Nov 22;48(11):752-60. Epub 2011 Sep 22.

Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Rennes, France.

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http://dx.doi.org/10.1136/jmedgenet-2011-100339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386902PMC
November 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Authors:
Marie Cognet Agnés Nougayrede Valérie Malan Patrick Callier Celia Cretolle Laurence Faivre David Genevieve Alice Goldenberg Delphine Heron Sandra Mercier Nicole Philip Sabine Sigaudy Alain Verloes Sabine Sarnacki Arnold Munnich Michel Vekemans Stanislas Lyonnet Heather Etchevers Jeanne Amiel Loïc de Pontual

Eur J Hum Genet 2011 May 12;19(5):602-6. Epub 2011 Jan 12.

Unité INSERM U-781, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2010.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083612PMC
May 2011

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Authors:
Valérie Dupé Lucie Rochard Sandra Mercier Yann Le Pétillon Isabelle Gicquel Claude Bendavid Georges Bourrouillou Usha Kini Christel Thauvin-Robinet Timothy P Bohan Sylvie Odent Christèle Dubourg Véronique David

Hum Mol Genet 2011 Mar 31;20(6):1122-31. Epub 2010 Dec 31.

Institut de Génétique et Développement, CNRS UMR6061, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France.

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http://dx.doi.org/10.1093/hmg/ddq556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390777PMC
March 2011

Clinical utility gene card for: Holoprosencephaly.

Authors:
Christèle Dubourg Véronique David Andrea Gropman Sandra Mercier Maximilian Muenke Sylvie Odent Daniel E Pineda-Alvarez Erich Roessler

Eur J Hum Genet 2011 Jan 21;19(1):preceeding 118-20. Epub 2010 Jul 21.

Génétique Moléculaire, UMR 6061 CNRS IGDR, CHU Pontchaillou,University of Rennes, Rennes, France.

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http://dx.doi.org/10.1038/ejhg.2010.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039493PMC
January 2011

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Authors:
Benjamin D Solomon Felicitas Lacbawan Sandra Mercier Nancy J Clegg Mauricio R Delgado Kenneth Rosenbaum Christèle Dubourg Veronique David Ann Haskins Olney Lars-Erik Wehner Ute Hehr Sherri Bale Aimee Paulussen Hubert J Smeets Emily Hardisty Anna Tylki-Szymanska Ewa Pronicka Michelle Clemens Elizabeth McPherson Raoul C M Hennekam Jin Hahn Elaine Stashinko Eric Levey Dagmar Wieczorek Elizabeth Roeder Chayim Can Schell-Apacik Carol W Booth Ronald L Thomas Sue Kenwrick Derek A T Cummings Sophia M Bous Amelia Keaton Joan Z Balog Donald Hadley Nan Zhou Robert Long Jorge I Vélez Daniel E Pineda-Alvarez Sylvie Odent Erich Roessler Maximilian Muenke

J Med Genet 2010 Aug 2;47(8):513-24. Epub 2009 Dec 2.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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https://epub.ub.uni-muenchen.de/18002/1/oa_18002.pdf
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2009.073049
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http://dx.doi.org/10.1136/jmg.2009.073049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208626PMC
August 2010

Holoprosencephaly flashcards: A summary for the clinician.

Authors:
Benjamin D Solomon Daniel E Pineda-Alvarez Sandra Mercier Manu S Raam Sylvie Odent Maximilian Muenke

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):3-7

National Human Genome Research Institute, USA.

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http://dx.doi.org/10.1002/ajmg.c.30245DOI Listing
February 2010

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Authors:
Benjamin D Solomon Sandra Mercier Jorge I Vélez Daniel E Pineda-Alvarez Adrian Wyllie Nan Zhou Christèle Dubourg Veronique David Sylvie Odent Erich Roessler Maximilian Muenke

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):133-41

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ajmg.c.30240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815217PMC
February 2010

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).

Authors:
Sandra Mercier Christèle Dubourg Marion Belleguic Laurent Pasquier Philippe Loget Josette Lucas Claude Bendavid Sylvie Odent

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):191-6

University of Rennes, France.

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http://dx.doi.org/10.1002/ajmg.c.30246DOI Listing
February 2010

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

Authors:
Yoann Saillour Nathalie Carion Chloé Quelin Pierre-Louis Leger Nathalie Boddaert Caroline Elie Annick Toutain Sandra Mercier Marie Anne Barthez Mathieu Milh Sylvie Joriot Vincent des Portes Nicole Philip Dominique Broglin Agathe Roubertie Gaelle Pitelet Marie Laure Moutard Jean Marc Pinard Claude Cances Anna Kaminska Jamel Chelly Chérif Beldjord Nadia Bahi-Buisson

Arch Neurol 2009 Aug;66(8):1007-15

Conseil National de la Recherche Scientifique, Université Paris Descartes (Unités Mixtes de Recherche 8104) and Institut National de la Santé et de la Recherche Médicale (INSERM) U567, Paris, France.

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http://dx.doi.org/10.1001/archneurol.2009.149DOI Listing
August 2009