Thomas Smol

Affiliations
  • CHU Lille, Laboratoire de Génétique Médicale, Lille, France.

Publications (51)

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Clinical genetics
Avec: Jan Hendrik Niemann , Chen Du , Susanne Morlot , Gunnar Schmidt , Bernd Auber , Beate Kaune , Gudrun Göhring , Tim Ripperger , Brigitte Schlegelberger , Winfried Hofmann , Thomas Smol , Emilie Ait-Yahya , Anna Raimbault , Anne Lambilliotte , Florence Petit , Doris Steinemann

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Karin Weiss , Hayley P Lazar , Alina Kurolap , Ariel F Martinez , Tamar Paperna , Lior Cohen , Marie F Smeland , Sandra Whalen , Solveig Heide , Boris Keren , Pauline Terhal , Melita Irving , Motoki Takaku , John D Roberts , Robert M Petrovich , Samantha A Schrier Vergano , Amy Kenney , Hanne Hove , Elizabeth DeChene , Shane C Quinonez , Estelle Colin , Alban Ziegler , Melissa Rumple , Mahim Jain , Danielle Monteil , Elizabeth R Roeder , Kimberly Nugent , Arie van Haeringen , Michael Gambello , Avni Santani , Līvija Medne , Bryan Krock , Cara M Skraban , Elaine H Zackai , Holly A Dubbs , Thomas Smol , Jamal Ghoumid , Michael J Parker , Michael Wright , Peter Turnpenny , Jill Clayton-Smith , Kay Metcalfe , Hitoshi Kurumizaka , Bruce D Gelb , Hagit Baris Feldman , Philippe M Campeau , Maximilian Muenke , Paul A Wade , Katherine Lachlan

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Human genetics
Avec: Juliette Coursimault , Anne-Marie Guerrot , Michelle M Morrow , Catherine Schramm , Francisca Millan Zamora , Anita Shanmugham , Shuxi Liu , Fanggeng Zou , Frédéric Bilan , Gwenaël Le Guyader , Ange-Line Bruel , Anne-Sophie Denommé-Pichon , Laurence Faivre , Frédéric Tran Mau-Them , Marine Tessarech , Estelle Colin , Salima El Chehadeh , Bénédicte Gérard , Elise Schaefer , Benjamin Cogne , Bertrand Isidor , Mathilde Nizon , Diane Doummar , Stéphanie Valence , Delphine Héron , Boris Keren , Cyril Mignot , Charles Coutton , Françoise Devillard , Anne-Sophie Alaix , Jeanne Amiel , Laurence Colleaux , Arnold Munnich , Karine Poirier , Marlène Rio , Sophie Rondeau , Giulia Barcia , Bert Callewaert , Annelies Dheedene , Candy Kumps , Sarah Vergult , Björn Menten , Wendy K Chung , Rebecca Hernan , Austin Larson , Kelly Nori , Sarah Stewart , James Wheless , Christina Kresge , Beth A Pletcher , Roseline Caumes , Thomas Smol , Sabine Sigaudy , Christine Coubes , Margaret Helm , Rosemarie Smith , Jennifer Morrison , Patricia G Wheeler , Amy Kritzer , Guillaume Jouret , Alexandra Afenjar , Jean-François Deleuze , Robert Olaso , Anne Boland , Christine Poitou , Thierry Frebourg , Claude Houdayer , Pascale Saugier-Veber , Gaël Nicolas , François Lecoquierre

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics
Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Human mutation
Avec: Juliette Coursimault , Kévin Cassinari , François Lecoquierre , Olivier Quenez , Sophie Coutant , Céline Derambure , Myriam Vezain , Nathalie Drouot , Gabriella Vera , Elise Schaefer , Anaïs Philippe , Bérénice Doray , Laëtitia Lambert , Jamal Ghoumid , Thomas Smol , Mélanie Rama , Marine Legendre , Didier Lacombe , Patricia Fergelot , Robert Olaso , Anne Boland , Jean-François Deleuze , Alice Goldenberg , Pascale Saugier-Veber , Gaël Nicolas

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.

Reproductive biomedicine online
Avec: Angèle Boursier , Augustin Boudry , Valérie Mitchell , Anne Loyens , Nathalie Rives , Alexandre Moerman , Lucie Thomas , Estelle Escudier , Aminata Toure , Marjorie Whitfield , Charles Coutton , Guillaume Martinez , Pierre F Ray , Zine-Eddine Kherraf , Stéphane Viville , Marie Legendre , Thomas Smol , Geoffroy Robin , Anne-Laure Barbotin

Recurrent "outsider" intronic variation in the

Frontiers in genetics
Avec: Lamisse Mansour-Hendili , Cyril Gitiaux , Madeleine Harion , Céline Latouche , Bénédicte Heron , Tanya Stojkovic , Mélanie Rama , Thomas Smol , Anne Sophie Jourdain , Karine Mention , Yann Nadjar , Manuel Schiff , Julie Lemale , Jamal Ghoumid , Frédéric Gottrand , Cécile Talbotec , Agnès Rötig , Benoît Funalot , Isabelle Desguerre

Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.

Journal of assisted reproduction and genetics
Avec: Anne-Laure Barbotin , Angèle Boursier , Anne-Sophie Jourdain , Alexandre Moerman , Baptiste Rabat , Mariam Chehimi , Caroline Thuillier , Jamal Ghoumid , Thomas Smol

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Nature communications
Avec: Jana Willim , Daniel Woike , Daniel Greene , Sarada Das , Kevin Pfeifer , Weimin Yuan , Anika Lindsey , Omar Itani , Amber L Böhme , Debora Tibbe , Hans-Hinrich Hönck , Fatemeh Hassani Nia , Auteur inconnu , Michael Zech , Theresa Brunet , Laurence Faivre , Arthur Sorlin , Antonio Vitobello , Thomas Smol , Cindy Colson , Kristin Baranano , Krista Schatz , Allan Bayat , Kelly Schoch , Rebecca Spillmann , Erica E Davis , Erin Conboy , Francesco Vetrini , Konrad Platzer , Sonja Neuser , Janina Gburek-Augustat , Alexandra Noel Grace , Bailey Mitchell , Alexander Stegmann , Margje Sinnema , Naomi Meeks , Carol Saunders , Maxime Cadieux-Dion , Juliane Hoyer , Julien Van-Gils , Jean-Madeleine de Sainte-Agathe , Michelle L Thompson , E Martina Bebin , Monika Weisz-Hubshman , Anne-Claude Tabet , Alain Verloes , Jonathan Levy , Xenia Latypova , Sönke Harder , Gary A Silverman , Stephen C Pak , Tim Schedl , Kathleen Freson , Andrew Mumford , Ernest Turro , Christian Schlein , Vandana Shashi , Hans-Jürgen Kreienkamp

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain : a journal of neurology
Avec: Darius Ebrahimi-Fakhari , Julian Teinert , Robert Behne , Miriam Wimmer , Angelica D'Amore , Kathrin Eberhardt , Barbara Brechmann , Marvin Ziegler , Dana M Jensen , Premsai Nagabhyrava , Gregory Geisel , Erin Carmody , Uzma Shamshad , Kira A Dies , Christopher J Yuskaitis , Catherine L Salussolia , Daniel Ebrahimi-Fakhari , Toni S Pearson , Afshin Saffari , Andreas Ziegler , Stefan Kölker , Jens Volkmann , Antje Wiesener , David R Bearden , Shenela Lakhani , Devorah Segal , Anaita Udwadia-Hegde , Andrea Martinuzzi , Jennifer Hirst , Seth Perlman , Yoshihisa Takiyama , Georgia Xiromerisiou , Katharina Vill , William O Walker , Anju Shukla , Rachana Dubey Gupta , Niklas Dahl , Ayse Aksoy , Helene Verhelst , Mauricio R Delgado , Radka Kremlikova Pourova , Abdelrahim A Sadek , Nour M Elkhateeb , Lubov Blumkin , Alejandro J Brea-Fernández , David Dacruz-Álvarez , Thomas Smol , Jamal Ghoumid , Diego Miguel , Constanze Heine , Jan-Ulrich Schlump , Hendrik Langen , Jonathan Baets , Saskia Bulk , Hossein Darvish , Somayeh Bakhtiari , Michael C Kruer , Elizabeth Lim-Melia , Nur Aydinli , Yasemin Alanay , Omnia El-Rashidy , Sheela Nampoothiri , Chirag Patel , Christian Beetz , Peter Bauer , Grace Yoon , Mireille Guillot , Steven P Miller , Thomas Bourinaris , Henry Houlden , Laura Robelin , Mathieu Anheim , Abdullah S Alamri , Adel A H Mahmoud , Soroor Inaloo , Parham Habibzadeh , Mohammad Ali Faghihi , Anna C Jansen , Stefanie Brock , Agathe Roubertie , Basil T Darras , Pankaj B Agrawal , Filippo M Santorelli , Joseph Gleeson , Maha S Zaki , Sarah I Sheikh , James T Bennett , Mustafa Sahin

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

American journal of human genetics
Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Bertrand Isidor , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters.

European journal of medical genetics
Avec: Thomas Smol , Frédéric Frénois , Sylvie Manouvrier-Hanu , Florence Petit , Jamal Ghoumid

Delineating the genotypic and phenotypic spectrum of

Journal of medical genetics
Avec: Anushree Acharya , Haluk Kavus , Patrick Dunn , Abdul Nasir , Leandra Folk , Kara Withrow , Ingrid M Wentzensen , Maura R Z Ruzhnikov , Camille Fallot , Thomas Smol , Mélanie Rama , Kathleen Brown , Sandra Whalen , Alban Ziegler , Magali Barth , Anna Chassevent , Constance Smith-Hicks , Alexandra Afenjar , Thomas Courtin , Solveig Heide , Esperanza Font-Montgomery , Caleb Heid , J Austin Hamm , Donald R Love , Farouq Thabet , Vinod K Misra , Mitch Cunningham , Suzanne M Leal , Irma Jarvela , Elizabeth A Normand , Fanggeng Zou , Mayada Helal , Boris Keren , Erin Torti , Wendy K Chung , Isabelle Schrauwen

Splice site variants in the canonical donor site of

Journal of medical genetics
Avec: Jade Fauqueux , Simon Boussion , Caroline Thuillier , Evine Meurisse , Didier Lacombe , Marjolaine Willems , Amélie Piton , Emilie Ait-Yahya , Jamal Ghoumid , Thomas Smol

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Clémence Vanlerberghe , Anne Sophie Jourdain , Frédéric Frenois , Emilie Ait-Yahya , Mike Bamshad , Anne Dieux , William Dufour , Fiona Leduc , Sylvie Manouvrier-Hanu , Karynne Patterson , Jamal Ghoumid , Fabienne Escande , Thomas Smol , Perrine Brunelle , Florence Petit

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of

Neurology
Avec: Hannah C Happ , Lynette G Sadleir , Matthew Zemel , Guillem de Valles-Ibáñez , Michael S Hildebrand , Allyn McConkie-Rosell , Marie McDonald , Halie May , Tristan Sands , Vimla Aggarwal , Christopher Elder , Timothy Feyma , Allan Bayat , Rikke S Møller , Christina D Fenger , Jens Erik Klint Nielsen , Anita N Datta , Kathleen M Gorman , Mary D King , Natalia D Linhares , Barbara K Burton , Andrea Paras , Sian Ellard , Julia Rankin , Anju Shukla , Purvi Majethia , Rory J Olson , Karthik Muthusamy , Lisa A Schimmenti , Keith Starnes , Lucie Sedláčková , Katalin Štěrbová , Markéta Vlčková , Petra Laššuthová , Alena Jahodová , Brenda E Porter , Nathalie Couque , Estelle Colin , Clément Prouteau , Corinne Collet , Thomas Smol , Roseline Caumes , Fleur Vansenne , Francesca Bisulli , Laura Licchetta , Richard Person , Erin Torti , Kirsty McWalter , Richard Webster , Elizabeth E Gerard , Gaetan Lesca , Pierre Szepetowski , Ingrid E Scheffer , Heather C Mefford , Gemma L Carvill

Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.

Pediatric neurology
Avec: Audrey Riquet , Pierre Cleuziou , Valentine Floret , Francois Quesque , Sabine Defoort , Thomas Smol

Loss-of-function variants in

medRxiv : the preprint server for health sciences
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal Morel , Jordan Lerner- Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Sander Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Mono and biallelic variants in

medRxiv : the preprint server for health sciences
Avec: Clara Houdayer , A Marie Phillips , Marie Chabbert , Jennifer Bourreau , Reza Maroofian , Henry Houlden , Kay Richards , Nebal Waill Saadi , Eliška Dad'ová , Patrick Van Bogaert , Mailys Rupin , Boris Keren , Perrine Charles , Thomas Smol , Audrey Riquet , Lynn Pais , Anne O'Donnell-Luria , Grace E VanNoy , Allan Bayat , Rikke S Møller , Kern Olofsson , Rami Abou Jamra , Steffen Syrbe , Majed Dasouki , Laurie H Seaver , Jennifer A Sullivan , Vandana Shashi , Fowzan S Alkuraya , Alexis F Poss , J Edward Spence , Rhonda E Schnur , Ian C Forster , Chaseley E Mckenzie , Cas Simons , Min Wang , Penny Snell , Kavitha Kothur , Michael Buckley , Tony Roscioli , Noha Elserafy , Benjamin Dauriat , Vincent Procaccio , Daniel Henrion , Guy Lenaers , Estelle Colin , Nienke E Verbeek , Koen L Van Gassen , Claire Legendre , Dominique Bonneau , Christopher A Reid , Katherine B Howell , Alban Ziegler , Christian Legros

Fraser syndrome without cryptophthalmos: Two cases.

European journal of medical genetics
Avec: S Boussion , S Lyonnet , B Van Der Zwaag , M J Vogel , T Smol , A Mezel , S Manouvrier-Hanu , C Vincent-Delorme , C Vanlerberghe

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

European journal of human genetics : EJHG
Avec: Theodore G Drivas , Dong Li , Divya Nair , Joseph T Alaimo , Mariëlle Alders , Janine Altmüller , Tahsin Stefan Barakat , E Martina Bebin , Nicole L Bertsch , Patrick R Blackburn , Alyssa Blesson , Arjan M Bouman , Knut Brockmann , Perrine Brunelle , Margit Burmeister , Gregory M Cooper , Jonas Denecke , Anne Dieux-Coëslier , Holly Dubbs , Alejandro Ferrer , Danna Gal , Lauren E Bartik , Lauren B Gunderson , Linda Hasadsri , Mahim Jain , Catherine Karimov , Beth Keena , Eric W Klee , Katja Kloth , Baiba Lace , Marina Macchiaiolo , Julien L Marcadier , Jeff M Milunsky , Melanie P Napier , Xilma R Ortiz-Gonzalez , Pavel N Pichurin , Jason Pinner , Zoe Powis , Chitra Prasad , Francesca Clementina Radio , Kristen J Rasmussen , Deborah L Renaud , Eric T Rush , Carol Saunders , Duygu Selcen , Ann R Seman , Deepali N Shinde , Erica D Smith , Thomas Smol , Lot Snijders Blok , Joan M Stoler , Sha Tang , Marco Tartaglia , Michelle L Thompson , Jiddeke M van de Kamp , Jingmin Wang , Dagmar Weise , Karin Weiss , Rixa Woitschach , Bernd Wollnik , Huifang Yan , Elaine H Zackai , Giuseppe Zampino , Philippe Campeau , Elizabeth Bhoj

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Katrine M Johannesen , Sumaiya Iqbal , Milena Guazzi , Nazanin A Mohammadi , Eduardo Pérez-Palma , Elise Schaefer , Anne De Saint Martin , Marie Therese Abiwarde , Amy McTague , Roser Pons , Amelie Piton , Manju A Kurian , Gautam Ambegaonkar , Helen Firth , Alba Sanchis-Juan , Marie Deprez , Katrien Jansen , Liesbeth De Waele , Eva H Briltra , Nienke E Verbeek , Marjan van Kempen , Walid Fazeli , Pasquale Striano , Federico Zara , Gerhard Visser , Hilde M H Braakman , Martin Haeusler , Miriam Elbracht , Ulvi Vaher , Thomas Smol , Johannes R Lemke , Konrad Platzer , Joanna Kennedy , Karl Martin Klein , Ping Yee Billie Au , Kimberly Smyth , Julie Kaplan , Morgan Thomas , Malin K Dewenter , Argirios Dinopoulos , Arthur J Campbell , Dennis Lal , Damien Lederer , Vivian W Y Liao , Philip K Ahring , Rikke S Møller , Elena Gardella

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Human mutation
Avec: Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose-Anne Thépault , Dévina C Ung , Nicolas Chatron , Bénédicte Gérard , Jamal Ghoumid , Gaëtan Lesca , Marianne Till , Thomas Smol , Nathalie Couque , Lyse Ruaud , Valérie Chune , Sarah Grotto , Alain Verloes , Marie-Laure Vuillaume , Annick Toutain , Martine Raynaud , Frédéric Laumonnier

Gain of function due to increased opening probability by two

Proceedings of the National Academy of Sciences of the United States of America
Avec: Mario Nappi , Vincenzo Barrese , Lidia Carotenuto , Gaetan Lesca , Audrey Labalme , Dorothee Ville , Thomas Smol , Mélanie Rama , Anne Dieux-Coeslier , Clotilde Rivier-Ringenbach , Maria Virginia Soldovieri , Paolo Ambrosino , Ilaria Mosca , Michael Pusch , Francesco Miceli , Maurizio Taglialatela

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Reem Al-Jawahiri , Aidin Foroutan , Jennifer Kerkhof , Haley McConkey , Michael Levy , Sadegheh Haghshenas , Kathleen Rooney , Jasmin Turner , Debbie Shears , Muriel Holder , Henrietta Lefroy , Bruce Castle , Linda M Reis , Elena V Semina , Auteur inconnu , Katherine Lachlan , Kate Chandler , Thomas Wright , Jill Clayton-Smith , Franziska Phan Hug , Nelly Pitteloud , Lucia Bartoloni , Sabine Hoffjan , Soo-Mi Park , Ajay Thankamony , Melissa Lees , Emma Wakeling , Swati Naik , Britta Hanker , Katta M Girisha , Emanuele Agolini , Zampino Giuseppe , Ziegler Alban , Marine Tessarech , Boris Keren , Alexandra Afenjar , Christiane Zweier , Andre Reis , Thomas Smol , Yoshinori Tsurusaki , Okamoto Nobuhiko , Futoshi Sekiguchi , Naomi Tsuchida , Naomichi Matsumoto , Ikuyo Kou , Yoshiro Yonezawa , Shiro Ikegawa , Bert Callewaert , Megan Freeth , Auteur inconnu , Lotte Kleinendorst , Alan Donaldson , Marielle Alders , Anne De Paepe , Bekim Sadikovic , Alisdair McNeill

Molecular and Phenotypic Characterization of the

Neurology
Avec: Zeynep Gokce-Samar , Annalisa Vetro , Julitta De Bellescize , Tiziana Pisano , Laloe Monteiro , Noémie Penaud , Christian M Korff , Joel Fluss , Carla Marini , Elisabetta Cesaroni , Blanca Mercedes Alvarez , Damien Sanlaville , Nicolas Chatron , Alexis A Arzimanoglou , Audrey Labalme , Vishnu A Cuddapah , Sarah M Ruggiero , Francois Lecoquierre , Gael Nicolas , Guerrot Anne Marie , Axel Lebas , Herve O Testard , Katherine L Helbig , Anna Ruiz , Adeline Ngoh , Manju A Kurian , Kimberley Reid , Robert Spaull , Pascal Joset , Georgia Ramantani , Katharina Steindl , Martin Krenn , Lucia Gerstl , Silvia Vieker , Dana Craiu , Manuela Pendziwiat , Chad Haldeman-Englert , Ilya Kanivets , Irina Romanova , Deepa S Rajan , Jill A Rosenfeld , Margaret Au , Katheryn Grand , John M , Arnaud Isapof , Nathalie Villeneuve , Thomas Smol , Roseline Caumes , Pia Zacher , Sonja Neuser , Sigrid Tinschert , Konrad Platzer , Tobias Bartolomaeus , Ines Mohnke , Maximilian Radtke , Rami Abou Jamra , Ingo Helbig , Floortje E Jansen , Klaas Koop , Gabrielle Rudolf , Sebastien Küry , Julien Courchet , Renzo Guerrini , Gaetan Lesca

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Science advances
Avec: Xiangbin Jia , Shujie Zhang , Senwei Tan , Bing Du , Mei He , Haisong Qin , Jia Chen , Xinyu Duan , Jingsi Luo , Fei Chen , Luping Ouyang , Jian Wang , Guodong Chen , Bin Yu , Ge Zhang , Zimin Zhang , Yongqing Lyu , Yi Huang , Jian Jiao , Jin Yun Helen Chen , Kathryn J Swoboda , Emanuele Agolini , Antonio Novelli , Chiara Leoni , Giuseppe Zampino , Gerarda Cappuccio , Nicola Brunetti-Pierri , Benedicte Gerard , Emmanuelle Ginglinger , Julie Richer , Hugh McMillan , Alexandre White-Brown , Kendra Hoekzema , Raphael A Bernier , Evangeline C Kurtz-Nelson , Rachel K Earl , Claartje Meddens , Marielle Alders , Meredith Fuchs , Roseline Caumes , Perrine Brunelle , Thomas Smol , Ryan Kuehl , Debra-Lynn Day-Salvatore , Kristin G Monaghan , Michelle M Morrow , Evan E Eichler , Zhengmao Hu , Ling Yuan , Jieqiong Tan , Kun Xia , Yiping Shen , Hui Guo

The different clinical facets of

Frontiers in cell and developmental biology
Avec: Ilaria Parenti , Elsa Leitão , Alma Kuechler , Laurent Villard , Cyril Goizet , Cécile Courdier , Allan Bayat , Alessandra Rossi , Sophie Julia , Ange-Line Bruel , Frédéric Tran Mau-Them , Sophie Nambot , Daphné Lehalle , Marjolaine Willems , James Lespinasse , Jamal Ghoumid , Roseline Caumes , Thomas Smol , Salima El Chehadeh , Elise Schaefer , Marie-Thérèse Abi-Warde , Boris Keren , Alexandra Afenjar , Anne-Claude Tabet , Jonathan Levy , Anna Maruani , Ángel Aledo-Serrano , Waltraud Garming , Clara Milleret-Pignot , Anna Chassevent , Marije Koopmans , Nienke E Verbeek , Richard Person , Rebecca Belles , Gary Bellus , Bonnie A Salbert , Frank J Kaiser , Laure Mazzola , Philippe Convers , Laurine Perrin , Amélie Piton , Gert Wiegand , Andrea Accogli , Francesco Brancati , Fabio Benfenati , Nicolas Chatron , David Lewis-Smith , Rhys H Thomas , Federico Zara , Pasquale Striano , Gaetan Lesca , Christel Depienne

Comparison of the ABC and ACMG systems for variant classification.

European journal of human genetics : EJHG
Avec: Gunnar Houge , Eirik Bratland , Ingvild Aukrust , Kristian Tveten , Gabrielė Žukauskaitė , Ivona Sansovic , Alejandro J Brea-Fernández , Karin Mayer , Teija Paakkola , Caoimhe McKenna , William Wright , Milica Keckarevic Markovic , Dorte L Lildballe , Michal Konecny , Thomas Smol , Pia Alhopuro , Estelle Arnaud Gouttenoire , Katharina Obeid , Albena Todorova , Milena Jankovic , Joanna M Lubieniecka , Maja Stojiljkovic , Marie-Pierre Buisine , Bjørn Ivar Haukanes , Marie Lorans , Hanno Roomere , François M Petit , Maria K Haanpää , Claire Beneteau , Belén Pérez , Dijana Plaseska-Karanfilska , Matthias Rath , Nico Fuhrmann , Bibiana I Ferreira , Coralea Stephanou , Wenche Sjursen , Aleš Maver , Cécile Rouzier , Adela Chirita-Emandi , João Gonçalves , Wei Cheng David Kuek , Martin Broly , Lonneke Haer-Wigman , Meow-Keong Thong , Sok-Kun Tae , Michaela Hyblova , Johan T den Dunnen , Andreas Laner

PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature.

European journal of medical genetics
Avec: Fiona Leduc , Thomas Smol , Benoit Catteau , Odile Boute , Florence Petit

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

American journal of medical genetics. Part A
Avec: Pauline Bordeneuve-Plante , Simon Boussion , Mélanie Rama , Perrine Brunelle , Caroline Thuillier , Clémence Vanlerberghe , Roseline Caumes , Cindy Colson , Emilie Ait-Yahya , Jamal Ghoumid , Thomas Smol

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Valérie Cormier-Daire , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Clinical genetics
Avec: Virginie Carmignac , Sophie Nambot , Daphné Lehalle , Patrick Callier , Stephanie Moortgat , Valérie Benoit , Jamal Ghoumid , Bruno Delobel , Thomas Smol , Caroline Thuillier , Cécile Zordan , Sophie Naudion , Thierry Bienvenu , Renaud Touraine , Francis Ramond , Christiane Zweier , André Reis , Cornelia Kraus , Mathilde Nizon , Benjamin Cogné , Alain Verloes , Frédéric Tran Mau-Them , Arthur Sorlin , Thibaud Jouan , Yannis Duffourd , Emilie Tisserant , Christophe Philippe , Antonio Vitobello , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

European journal of medical genetics
Avec: Thomas Smol , Wassila Ribero-Karrouz , Patrick Edery , Daniela Brindusa Gorduza , Sophie Catteau-Jonard , Sylvie Manouvrier-Hanu , Jamal Ghoumid

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Human mutation
Avec: Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle , William Dufour , Simon Boussion , Elise Brischoux-Boucher , Cindy Colson , Anne Dieux , Marion Gérard , Jamal Ghoumid , Fabienne Giuliano , Alice Goldenberg , Philippe Khau Van Kien , Daphné Lehalle , Gilles Morin , Sébastien Moutton , Thomas Smol , Clémence Vanlerberghe , Sylvie Manouvrier-Hanu , Fabienne Escande

A Novel Rare Missense Variation of the

International journal of molecular sciences
Avec: Sara Frade-Proud'Hon-Clerc , Thomas Smol , Frédéric Frenois , Olivier Sand , Emmanuel Vaillant , Véronique Dhennin , Amélie Bonnefond , Philippe Froguel , Mathurin Fumery , Nathalie Guillon-Dellac , Corinne Gower-Rousseau , Francis Vasseur

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: N Schwarz , T Bast , E Gaily , G Golla , K M Gorman , L R Griffiths , A Hahn , J Hukin , M King , C Korff , M J Miranda , R S Møller , B Neubauer , R A Smith , T Smol , P Striano , B Stroud , M Vaccarezza , G Kluger , H Lerche , W Fazeli

Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemia.

Haematologica
Avec: Audrey Bidet , Stéphanie Dulucq , Thomas Smol , Alice Marceau-Renaut , Stéphane Morisset , Valérie Coiteux , Marie-Pierre Noël-Walter , Franck-Emmanuel Nicolini , Isabelle Tigaud , Isabelle Luquet , Stéphanie Struski , Baptiste Gaillard , Dominique Penther , Sylvie Tondeur , Nathalie Nadal , Eric Hermet , Lauren Véronèse , Delphine Réa , Carine Gervais , Olivier Theisen , Christine Terré , Pascale Cony-Makhoul , Christine Lefebvre , Jean-Baptiste Gaillard , Isabelle Radford , Anne-Laure Vervaeke , Carole Barin , Elise Chapiro , Florence Nguyen-Khac , Gabriel Etienne , Claude Preudhomme , François Xavier Mahon , Catherine Roche-Lestienne , Auteur inconnu

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

European journal of human genetics : EJHG
Avec: Clémence Vanlerberghe , Anne-Sophie Jourdain , Jamal Ghoumid , Frédéric Frenois , Aurélie Mezel , Guy Vaksmann , Bruno Lenne , Bruno Delobel , Nicole Porchet , Valérie Cormier-Daire , Thomas Smol , Fabienne Escande , Sylvie Manouvrier-Hanu , Florence Petit

Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?

Chest
Avec: Victor Valentin , Jean-François Bervar , Catherine Vincent-Delorme , Thomas Smol , Lidwine Wemeau , Martine Remy , Olivier Le Rouzic , Cécile Chenivesse

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.

Clinical genetics
Avec: Aurore Garde , Jenny Cornaton , Arthur Sorlin , Sébastien Moutton , Claire Nicolas , Christine Juif , David Geneviève , Laurence Perrin , Philippe Khau-Van-Kien , Thomas Smol , Catherine Vincent-Delorme , Bertrand Isidor , Benjamin Cogné , Alexandra Afenjar , Boris Keren , Christine Coubes , Fabienne Prieur , Annick Toutain , Yann Trousselet , Solène Bourgouin , Coralie Gonin-Olympiade , Kim Giraudat , Amélie Piton , Bénédicte Gérard , Sylvie Odent , Fanny Tessier , Lola Lemasson , Solveig Heide , Anne-Claire Gelineau , Catherine Sarret , Anne Miret , Elise Schaefer , Juliette Piard , Rémi Mathevet , Marion Boucon , Ange-Line Bruel , Frederic Tran Mau-Them , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Human genetics
Avec: Ilaria Parenti , Daphné Lehalle , Caroline Nava , Erin Torti , Elsa Leitão , Richard Person , Takeshi Mizuguchi , Naomichi Matsumoto , Mitsuhiro Kato , Kazuyuki Nakamura , Stella A de Man , Heidi Cope , Vandana Shashi , Auteur inconnu , Jennifer Friedman , Pascal Joset , Katharina Steindl , Anita Rauch , Irena Muffels , Peter M van Hasselt , Florence Petit , Thomas Smol , Gwenaël Le Guyader , Frédéric Bilan , Arthur Sorlin , Antonio Vitobello , Christophe Philippe , Ingrid M B H van de Laar , Marjon A van Slegtenhorst , Philippe M Campeau , Ping Yee Billie Au , Mitsuko Nakashima , Hirotomo Saitsu , Tatsuya Yamamoto , Yumiko Nomura , Raymond J Louie , Michael J Lyons , Amy Dobson , Astrid S Plomp , M Mahdi Motazacker , Frank J Kaiser , Andrew T Timberlake , Sabine A Fuchs , Christel Depienne , Cyril Mignot

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Clémence Vanlerberghe , Frédéric Frénois , Thomas Smol , Anne-Sophie Jourdain , Fabienne Escande , Emilie Aït-Yahya , Abdulrahman A Aldeeri , Timothy W Yu , Valérie Cormier-Daire , Jamal Ghoumid , Maureen Jacob , Ruth Newbury-Ecob , Sylvie Manouvrier , Jessica Platon , Sebastian Sailer , Perrine Brunelle , Lydie Da Costa , Florence Petit

Brain malformations and seizures by impaired chaperonin function of TRiC.

Science (New York, N.Y.)
Avec: Florian Kraft , Piere Rodriguez-Aliaga , Weimin Yuan , Lena Franken , Kamil Zajt , Dimah Hasan , Ting-Ting Lee , Elisabetta Flex , Andreas Hentschel , A Micheil Innes , Bixia Zheng , Dong Sun Julia Suh , Cordula Knopp , Eva Lausberg , Jeremias Krause , Xiaomeng Zhang , Pamela Trapane , Riley Carroll , Martin McClatchey , Andrew E Fry , Lisa Wang , Sebastian Giesselmann , Hieu Hoang , Dustin Baldridge , Gary A Silverman , Francesca Clementina Radio , Enrico Bertini , Andrea Ciolfi , Katherine A Blood , Jean-Madeleine de Sainte Agathe , Perrine Charles , Gaber Bergant , Goran Čuturilo , Borut Peterlin , Karin Diderich , Haley Streff , Laurie Robak , Renske Oegema , Ellen van Binsbergen , John Herriges , Carol J Saunders , Andrea Maier , Stefan Wolking , Yvonne Weber , Hanns Lochmüller , Stefanie Meyer , Alberto Aleman , Kiran Polavarapu , Gael Nicolas , Alice Goldenberg , Lucie Guyant , Kathleen Pope , Katherine N Hehmeyer , Kristin G Monaghan , Annegret Quade , Thomas Smol , Roseline Caumes , Sarah Duerinckx , Chantal Depondt , Wim Van Paesschen , Claudine Rieubland , Claudia Poloni , Michel Guipponi , Severine Arcioni , Marije Meuwissen , Anna C Jansen , Jessica Rosenblum , Tobias B Haack , Miriam Bertrand , Lea Gerstner , Janine Magg , Olaf Riess , Jörg B Schulz , Norbert Wagner , Martin Wiesmann , Joachim Weis , Thomas Eggermann , Matthias Begemann , Andreas Roos , Martin Häusler , Tim Schedl , Marco Tartaglia , Juliane Bremer , Stephen C Pak , Judith Frydman , Miriam Elbracht , Ingo Kurth

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Karin Weiss , Hayley P Lazar , Alina Kurolap , Ariel F Martinez , Tamar Paperna , Lior Cohen , Marie F Smeland , Sandra Whalen , Solveig Heide , Boris Keren , Pauline Terhal , Melita Irving , Motoki Takaku , John D Roberts , Robert M Petrovich , Samantha A Schrier Vergano , Amy Kenney , Hanne Hove , Elizabeth DeChene , Shane C Quinonez , Estelle Colin , Alban Ziegler , Melissa Rumple , Mahim Jain , Danielle Monteil , Elizabeth R Roeder , Kimberly Nugent , Arie van Haeringen , Michael Gambello , Avni Santani , Līvija Medne , Bryan Krock , Cara M Skraban , Elaine H Zackai , Holly A Dubbs , Thomas Smol , Jamal Ghoumid , Michael J Parker , Michael Wright , Peter Turnpenny , Jill Clayton-Smith , Kay Metcalfe , Hitoshi Kurumizaka , Bruce D Gelb , Hagit Baris Feldman , Philippe M Campeau , Maximilian Muenke , Paul A Wade , Katherine Lachlan

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.

Neurogenetics
Avec: Thomas Smol , Caroline Thuillier , Elise Boudry-Labis , Anne Dieux-Coeslier , Bénédicte Duban-Bedu , Roseline Caumes , Sonia Bouquillon , Sylvie Manouvrier-Hanu , Catherine Roche-Lestienne , Jamal Ghoumid

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

American journal of human genetics
Avec: Floor A Duijkers , Andrew McDonald , Georges E Janssens , Marco Lezzerini , Aldo Jongejan , Silvana van Koningsbruggen , Wendela G Leeuwenburgh-Pronk , Marcin W Wlodarski , Sébastien Moutton , Frédéric Tran-Mau-Them , Christel Thauvin-Robinet , Laurence Faivre , Kristin G Monaghan , Thomas Smol , Odile Boute-Benejean , Roger L Ladda , Susan L Sell , Ange-Line Bruel , Riekelt H Houtkooper , Alyson W MacInnes

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Cyril Mignot , Aoife C McMahon , Claire Bar , Philippe M Campeau , Claire Davidson , Julien Buratti , Caroline Nava , Marie-Line Jacquemont , Marilyn Tallot , Mathieu Milh , Patrick Edery , Pauline Marzin , Giulia Barcia , Christine Barnerias , Claude Besmond , Thierry Bienvenu , Ange-Line Bruel , Ledia Brunga , Berten Ceulemans , Christine Coubes , Ana G Cristancho , Fiona Cunningham , Marie-Bertille Dehouck , Elizabeth J Donner , Bénédicte Duban-Bedu , Christèle Dubourg , Elena Gardella , Julie Gauthier , David Geneviève , Stéphanie Gobin-Limballe , Ethan M Goldberg , Eveline Hagebeuk , Fadi F Hamdan , Miroslava Hančárová , Laurence Hubert , Christine Ioos , Shoji Ichikawa , Sandra Janssens , Hubert Journel , Anna Kaminska , Boris Keren , Marije Koopmans , Caroline Lacoste , Petra Laššuthová , Damien Lederer , Daphné Lehalle , Dragan Marjanovic , Julia Métreau , Jacques L Michaud , Kathryn Miller , Berge A Minassian , Joannella Morales , Marie-Laure Moutard , Arnold Munnich , Xilma R Ortiz-Gonzalez , Jean-Marc Pinard , Darina Prchalová , Audrey Putoux , Chloé Quelin , Alyssa R Rosen , Joelle Roume , Elsa Rossignol , Marleen E H Simon , Thomas Smol , Natasha Shur , Ivan Shelihan , Katalin Štěrbová , Emílie Vyhnálková , Catheline Vilain , Julie Soblet , Guillaume Smits , Samuel P Yang , Jasper J van der Smagt , Peter M van Hasselt , Marjan van Kempen , Sarah Weckhuysen , Ingo Helbig , Laurent Villard , Delphine Héron , Bobby Koeleman , Rikke S Møller , Gaetan Lesca , Katherine L Helbig , Rima Nabbout , Nienke E Verbeek , Christel Depienne

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

European journal of human genetics : EJHG
Avec: Sophie Nambot , Laurence Faivre , Ghayda Mirzaa , Julien Thevenon , Ange-Line Bruel , Anne-Laure Mosca-Boidron , Alice Masurel-Paulet , Alice Goldenberg , Nathalie Le Meur , Aude Charollais , Cyril Mignot , Florence Petit , Massimiliano Rossi , Julia Metreau , Valérie Layet , Daniel Amram , Odile Boute-Bénéjean , Elizabeth Bhoj , Margot A Cousin , Teresa M Kruisselbrink , Brendan C Lanpher , Eric W Klee , Elise Fiala , Dorothy K Grange , Wendy S Meschino , Susan M Hiatt , Gregory M Cooper , Hilde Olivié , Wendy E Smith , Meghan Dumas , Anna Lehman , Auteur inconnu , Cara Inglese , Mathilde Nizon , Renzo Guerrini , Annalisa Vetro , Eitan S Kaplan , Dolores Miramar , Julien Van Gils , Patricia Fergelot , Olaf Bodamer , Johanna C Herkert , Sander Pajusalu , Katrin Õunap , James J Filiano , Thomas Smol , Amélie Piton , Bénédicte Gérard , Sandra Chantot-Bastaraud , Thierry Bienvenu , Dong Li , Jane Juusola , Koen Devriendt , Frederic Bilan , Charlotte Poé , Martin Chevarin , Thibaud Jouan , Emilie Tisserant , Jean-Baptiste Rivière , Frédéric Tran Mau-Them , Christophe Philippe , Yannis Duffourd , William B Dobyns , Robert Hevner , Christel Thauvin-Robinet

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Human mutation
Avec: Simon Boussion , Fabienne Escande , Anne-Sophie Jourdain , Thomas Smol , Perrine Brunelle , Céline Duhamel , Yves Alembik , Tania Attié-Bitach , Geneviève Baujat , Anne Bazin , Maryse Bonnière , Philippe Carassou , Dominique Carles , Louise Devisme , Cyril Goizet , Alice Goldenberg , Sarah Grotto , Agnès Guichet , Pierre-Simon Jouk , Laurence Loeuillet , Charlotte Mechler , Caroline Michot , Fanny Pelluard , Audrey Putoux , Sandra Whalen , Jamal Ghoumid , Sylvie Manouvrier-Hanu , Florence Petit

Réseau de co-auteurs

Jamal Ghoumid 19 collaborations
Boris Keren 13 collaborations
Florence Petit 10 collaborations
None None 9 collaborations
Ange-Line Bruel 8 collaborations
Laurence Faivre 8 collaborations
Roseline Caumes 8 collaborations
Gaetan Lesca 7 collaborations
Sylvie Manouvrier-Hanu 7 collaborations
Perrine Brunelle 7 collaborations
Estelle Colin 6 collaborations
Cyril Mignot 6 collaborations
Alexandra Afenjar 6 collaborations
Alice Goldenberg 6 collaborations
Daphné Lehalle 6 collaborations
Solveig Heide 5 collaborations
Alban Ziegler 5 collaborations
Philippe M Campeau 5 collaborations
Elise Schaefer 5 collaborations
Arthur Sorlin 5 collaborations
Mélanie Rama 5 collaborations
Anne-Sophie Jourdain 5 collaborations
Caroline Thuillier 5 collaborations
Antonio Vitobello 5 collaborations
Rikke S Møller 5 collaborations
Nienke E Verbeek 5 collaborations
Clémence Vanlerberghe 5 collaborations
Fabienne Escande 5 collaborations
Emilie Ait-Yahya 4 collaborations
Sandra Whalen 4 collaborations
Jill Clayton-Smith 4 collaborations
Frédéric Tran Mau-Them 4 collaborations
Bénédicte Gérard 4 collaborations
Bertrand Isidor 4 collaborations
Delphine Héron 4 collaborations
Arnold Munnich 4 collaborations
Giulia Barcia 4 collaborations
Christine Coubes 4 collaborations
Catherine Vincent-Delorme 4 collaborations
Marco Tartaglia 4 collaborations
Cindy Colson 4 collaborations
Allan Bayat 4 collaborations
Katherine L Helbig 4 collaborations
Ingo Helbig 4 collaborations
Pascal Joset 4 collaborations
Caroline Nava 4 collaborations
Richard Person 4 collaborations
Laurent Villard 4 collaborations
Thierry Bienvenu 4 collaborations
Christel Depienne 4 collaborations
Simon Boussion 4 collaborations
Amélie Piton 4 collaborations
Nicolas Chatron 4 collaborations
Christophe Philippe 4 collaborations
Christel Thauvin-Robinet 4 collaborations
Karin Weiss 3 collaborations
Mahim Jain 3 collaborations
Arie van Haeringen 3 collaborations
Elaine H Zackai 3 collaborations
Katherine Lachlan 3 collaborations
Mathilde Nizon 3 collaborations
Wendy K Chung 3 collaborations
François Lecoquierre 3 collaborations
Anne O'Donnell-Luria 3 collaborations
Theresa Brunet 3 collaborations
Isabelle Thiffault 3 collaborations
Konrad Platzer 3 collaborations
Carol Saunders 3 collaborations
Alain Verloes 3 collaborations
Vandana Shashi 3 collaborations
Rami Abou Jamra 3 collaborations
Perrine Charles 3 collaborations
Christèle Dubourg 3 collaborations
Anita Rauch 3 collaborations
Katharina Steindl 3 collaborations
Patrick Edery 3 collaborations
Bénédicte Duban-Bedu 3 collaborations
Elena Gardella 3 collaborations
David Geneviève 3 collaborations
Marije Koopmans 3 collaborations
Petra Laššuthová 3 collaborations
Damien Lederer 3 collaborations
Xilma R Ortiz-Gonzalez 3 collaborations
Audrey Putoux 3 collaborations
Katalin Štěrbová 3 collaborations
Peter M van Hasselt 3 collaborations
Marjan van Kempen 3 collaborations
Erin Torti 3 collaborations
Frédéric Frenois 3 collaborations
Francesca Clementina Radio 3 collaborations
Benjamin Cogné 3 collaborations
Frederic Tran Mau-Them 3 collaborations
Eric W Klee 3 collaborations
Audrey Labalme 3 collaborations
Christiane Zweier 3 collaborations
Kristin G Monaghan 3 collaborations
Sophie Nambot 3 collaborations
Valérie Cormier-Daire 3 collaborations
Sébastien Moutton 3 collaborations
Hayley P Lazar 2 collaborations
Alina Kurolap 2 collaborations
Ariel F Martinez 2 collaborations
Tamar Paperna 2 collaborations
Lior Cohen 2 collaborations
Marie F Smeland 2 collaborations
Pauline Terhal 2 collaborations
Melita Irving 2 collaborations
Motoki Takaku 2 collaborations
John D Roberts 2 collaborations
Robert M Petrovich 2 collaborations
Samantha A Schrier Vergano 2 collaborations
Amy Kenney 2 collaborations
Hanne Hove 2 collaborations
Elizabeth DeChene 2 collaborations
Shane C Quinonez 2 collaborations
Melissa Rumple 2 collaborations
Danielle Monteil 2 collaborations
Elizabeth R Roeder 2 collaborations
Kimberly Nugent 2 collaborations
Michael Gambello 2 collaborations
Avni Santani 2 collaborations
Līvija Medne 2 collaborations
Bryan Krock 2 collaborations
Cara M Skraban 2 collaborations
Holly A Dubbs 2 collaborations
Michael J Parker 2 collaborations
Michael Wright 2 collaborations
Peter Turnpenny 2 collaborations
Kay Metcalfe 2 collaborations
Hitoshi Kurumizaka 2 collaborations
Bruce D Gelb 2 collaborations
Hagit Baris Feldman 2 collaborations
Maximilian Muenke 2 collaborations
Paul A Wade 2 collaborations
Juliette Coursimault 2 collaborations
Anne-Marie Guerrot 2 collaborations
Michelle M Morrow 2 collaborations
Fanggeng Zou 2 collaborations
Frédéric Bilan 2 collaborations
Gwenaël Le Guyader 2 collaborations
Marine Tessarech 2 collaborations
Salima El Chehadeh 2 collaborations
Charles Coutton 2 collaborations
Jeanne Amiel 2 collaborations
Sophie Rondeau 2 collaborations
Bert Callewaert 2 collaborations
Jean-François Deleuze 2 collaborations
Robert Olaso 2 collaborations
Anne Boland 2 collaborations
Pascale Saugier-Veber 2 collaborations
Gaël Nicolas 2 collaborations
Shannon Rego 2 collaborations
Jiddeke M van de Kamp 2 collaborations
Anna Ruiz 2 collaborations
Michel Guipponi 2 collaborations
Zoe Powis 2 collaborations
Didier Lacombe 2 collaborations
Patricia Fergelot 2 collaborations
Angèle Boursier 2 collaborations
Alexandre Moerman 2 collaborations
Anne-Laure Barbotin 2 collaborations
Anne Sophie Jourdain 2 collaborations
Weimin Yuan 2 collaborations
Michael Zech 2 collaborations
Sonja Neuser 2 collaborations
Michelle L Thompson 2 collaborations
E Martina Bebin 2 collaborations
Anne-Claude Tabet 2 collaborations
Jonathan Levy 2 collaborations
Gary A Silverman 2 collaborations
Stephen C Pak 2 collaborations
Tim Schedl 2 collaborations
Anju Shukla 2 collaborations
Alejandro J Brea-Fernández 2 collaborations
Henry Houlden 2 collaborations
Anna C Jansen 2 collaborations
Pankaj B Agrawal 2 collaborations
Andrea Accogli 2 collaborations
Helen Cox 2 collaborations
Tobias B Haack 2 collaborations
Kirsty McWalter 2 collaborations
Manuela Pendziwiat 2 collaborations
Steffen Syrbe 2 collaborations
Silvana van Koningsbruggen 2 collaborations
Ingrid M Wentzensen 2 collaborations
Aoife C McMahon 2 collaborations
Claire Bar 2 collaborations
Claire Davidson 2 collaborations
Julien Buratti 2 collaborations
Marie-Line Jacquemont 2 collaborations
Marilyn Tallot 2 collaborations
Mathieu Milh 2 collaborations
Pauline Marzin 2 collaborations
Christine Barnerias 2 collaborations
Claude Besmond 2 collaborations
Ledia Brunga 2 collaborations
Berten Ceulemans 2 collaborations
Ana G Cristancho 2 collaborations
Fiona Cunningham 2 collaborations
Marie-Bertille Dehouck 2 collaborations
Elizabeth J Donner 2 collaborations
Julie Gauthier 2 collaborations
Stéphanie Gobin-Limballe 2 collaborations
Ethan M Goldberg 2 collaborations
Eveline Hagebeuk 2 collaborations
Fadi F Hamdan 2 collaborations
Miroslava Hančárová 2 collaborations
Laurence Hubert 2 collaborations
Christine Ioos 2 collaborations
Shoji Ichikawa 2 collaborations
Sandra Janssens 2 collaborations
Hubert Journel 2 collaborations
Anna Kaminska 2 collaborations
Caroline Lacoste 2 collaborations
Dragan Marjanovic 2 collaborations
Julia Métreau 2 collaborations
Jacques L Michaud 2 collaborations
Kathryn Miller 2 collaborations
Berge A Minassian 2 collaborations
Joannella Morales 2 collaborations
Marie-Laure Moutard 2 collaborations
Jean-Marc Pinard 2 collaborations
Darina Prchalová 2 collaborations
Chloé Quelin 2 collaborations
Alyssa R Rosen 2 collaborations
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Marleen E H Simon 2 collaborations
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Emílie Vyhnálková 2 collaborations
Catheline Vilain 2 collaborations
Julie Soblet 2 collaborations
Guillaume Smits 2 collaborations
Samuel P Yang 2 collaborations
Jasper J van der Smagt 2 collaborations
Sarah Weckhuysen 2 collaborations
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Rima Nabbout 2 collaborations
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Anne Dieux 2 collaborations
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Marie McDonald 2 collaborations
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Patrick R Blackburn 2 collaborations
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Pavel N Pichurin 2 collaborations
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Lynn Pais 2 collaborations
T Smol 2 collaborations
Dong Li 2 collaborations
Gregory M Cooper 2 collaborations
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