Frederic Tran Mau-Them

Affiliations
  • Unité Fonctionnelle Innovation en Diagnostic Genomique des Maladies Rares, Center Hospitalier Universitaire Dijon Bourgogne, Dijon 21079, France; Inserm, UMR 1231, Genetique des Anomalies du Development, Université de Bourgogne, Dijon 21079, France.

Publications (35)

Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

Prenatal diagnosis
Avec: Maud Favier , Julian Delanne , Guillaume Gorincour , Laurence Faivre , Caroline Racine , Christophe Philippe , Yannis Duffourd , Antonio Vitobello , Thierry Rousseau , Olivia Martz , Georges Tarris , Camélia Oualiken , Christel Thauvin-Robinet , Frédéric Tran Mau-Them

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Prenatal diagnosis
Avec: Maud Favier , Rodolph Dard , Guillaume Gorincour , Aude Tessier , Emmanuelle Motte-Signoret , Clemence Duvillier , Caroline Racine , Laurence Faivre , Christel Thauvin-Robinet , Frédéric Tran Mau-Them

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

American journal of human genetics
Avec: Vincenzo Salpietro , Nancy T Malintan , Isabel Llano-Rivas , Christine G Spaeth , Stephanie Efthymiou , Pasquale Striano , Jana Vandrovcova , Maria C Cutrupi , Roberto Chimenz , Emanuele David , Gabriella Di Rosa , Anna Marce-Grau , Miquel Raspall-Chaure , Elena Martin-Hernandez , Federico Zara , Carlo Minetti , Auteur inconnu , Auteur inconnu , Oscar D Bello , Rita De Zorzi , Sara Fortuna , Andrew Dauber , Mariam Alkhawaja , Tipu Sultan , Kshitij Mankad , Antonio Vitobello , Quentin Thomas , Laurence Faivre , Francisco Martinez-Azorin , Carlos E Prada , Alfons Macaya , Dimitri M Kullmann , James E Rothman , Shyam S Krishnakumar , Henry Houlden

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

American journal of human genetics
Avec: Lisenka E L M Vissers , Sreehari Kalvakuri , Elke de Boer , Sinje Geuer , Machteld Oud , Inge van Outersterp , Michael Kwint , Melde Witmond , Simone Kersten , Daniel L Polla , Dilys Weijers , Amber Begtrup , Kirsty McWalter , Anna Ruiz , Elisabeth Gabau , Jenny E V Morton , Christopher Griffith , Karin Weiss , Candace Gamble , James Bartley , Hilary J Vernon , Kendra Brunet , Claudia Ruivenkamp , Sarina G Kant , Paul Kruszka , Austin Larson , Alexandra Afenjar , Thierry Billette de Villemeur , Kimberly Nugent , Auteur inconnu , F Lucy Raymond , Hanka Venselaar , Florence Demurger , Claudia Soler-Alfonso , Dong Li , Elizabeth Bhoj , Ian Hayes , Nina Powell Hamilton , Ayesha Ahmad , Rachel Fisher , Myrthe van den Born , Marjolaine Willems , Arthur Sorlin , Julian Delanne , Sebastien Moutton , Philippe Christophe , Antonio Vitobello , Himanshu Goel , Lauren Massingham , Chanika Phornphutkul , Jennifer Schwab , Boris Keren , Perrine Charles , Maaike Vreeburg , Lenika De Simone , George Hoganson , Maria Iascone , Donatella Milani , Lucie Evenepoel , Nicole Revencu , D Isum Ward , Kaitlyn Burns , Ian Krantz , Sarah E Raible , Jill R Murrell , Kathleen Wood , Megan T Cho , Hans van Bokhoven , Maximilian Muenke , Tjitske Kleefstra , Rolf Bodmer , Arjan P M de Brouwer

Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

American journal of medical genetics. Part A
Avec: Mylène Tharreau , Aurore Garde , Sandrine Marlin , Godelieve Morel , Sylvain Ernest , Sophie Nambot , Yannis Duffourd , Ninon Ternoy , Christian Duvillard , Siddharth Banka , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

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 , 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

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laurens Hannes , Marta Atzori , Alice Goldenberg , Jesús Argente , Tania Attie-Bitach , Jeanne Amiel , Catia Attanasio , Débora G Braslavsky , Ange-Line Bruel , Mireille Castanet , Christèle Dubourg , An Jacobs , Stanislas Lyonnet , Julian Martinez-Mayer , María Inés Pérez Millán , Nunziana Pezzella , Elise Pelgrims , Mio Aerden , Marijke Bauters , Anne Rochtus , Paula Scaglia , Ann Swillen , Alejandro Sifrim , Roberta Tammaro , Sylvie Odent , Christel Thauvin-Robinet , Brunella Franco , Jeroen Breckpot

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

American journal of human genetics
Avec: Francesca Mattioli , Gaelle Hayot , Nathalie Drouot , Bertrand Isidor , Jérémie Courraud , Maria-Victoria Hinckelmann , Chantal Sellier , Alica Goldman , Aida Telegrafi , Alicia Boughton , Candace Gamble , Sebastien Moutton , Angélique Quartier , Nolwenn Jean , Paul Van Ness , Sarah Grotto , Sophie Nambot , Ganka Douglas , Yue Cindy Si , Jamel Chelly , Zohra Shad , Elisabeth Kaplan , Richard Dineen , Christelle Golzio , Nicolas Charlet-Berguerand , Jean-Louis Mandel , Amélie Piton

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elodie Sanchez , Béryl Laplace-Builhé , Frédéric Tran Mau-Them , Eric Richard , Alice Goldenberg , Tomi L Toler , Thomas Guignard , Vincent Gatinois , Marie Vincent , Catherine Blanchet , Anne Boland , Marie Thérèse Bihoreau , Jean-Francois Deleuze , Robert Olaso , Walton Nephi , Hermann-Josef Lüdecke , Joke B G M Verheij , Florence Moreau-Lenoir , Françoise Denoyelle , Jean-Baptiste Rivière , Jean-Louis Laplanche , Marcia Willing , Guillaume Captier , Florence Apparailly , Dagmar Wieczorek , Corinne Collet , Farida Djouad , David Geneviève

Biallelic variants in

Neurology
Avec: Marjo S van der Knaap , Marianna Bugiani , Marisa I Mendes , Lisa G Riley , Desiree E C Smith , Joëlle Rudinger-Thirion , Magali Frugier , Marjolein Breur , Joanna Crawford , Judith van Gaalen , Meyke Schouten , Marjolaine Willems , Quinten Waisfisz , Richard J Rodenburg , Ryan J Taft , Boris Keren , John Christodoulou , Christel Depienne , Cas Simons , Gajja S Salomons , Fanny Mochel

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Molecular genetics and metabolism reports
Avec: Julian Delanne , Ange-Line Bruel , Frédéric Huet , Sébastien Moutton , Sophie Nambot , Margot Grisval , Nada Houcinat , Paul Kuentz , Arthur Sorlin , Patrick Callier , Nolwenn Jean-Marcais , Anne-Laure Mosca-Boidron , Frédéric Tran Mau-Them , Anne-Sophie Denommé-Pichon , Antonio Vitobello , Daphné Lehalle , Salima El Chehadeh , Christine Francannet , Marine Lebrun , Laetitia Lambert , Marie-Line Jacquemont , Marion Gerard-Blanluet , Jean-Luc Alessandri , Marjolaine Willems , Julien Thevenon , Mondher Chouchane , Véronique Darmency , Clémence Fatus-Fauconnier , Sébastien Gay , Marie Bournez , Alice Masurel , Vanessa Leguy , Yannis Duffourd , Christophe Philippe , François Feillet , Laurence Faivre , Christel Thauvin-Robinet

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

European journal of human genetics : EJHG
Avec: Nicolas Bourgon , Aurore Garde , Ange-Line Bruel , Mathilde Lefebvre , Sebastien Moutton , Arthur Sorlin , Sophie Nambot , Julian Delanne , Martin Chevarin , Charlotte Pöe , Julien Thevenon , Daphné Lehalle , Nolween Jean-Marçais , Paul Kuentz , Laetitia Lambert , Salima El Chehadeh , Elise Schaefer , Marjolaine Willems , Fanny Laffargue , Christine Francannet , Mélanie Fradin , Dominique Gaillard , Sophie Blesson , Alice Goldenberg , Yline Capri , Paul Sagot , Thierry Rousseau , Emmanuel Simon , Christine Binquet , Marie-Laure Ascencio , Yannis Duffourd , Christophe Philippe , Laurence Faivre , Antonio Vitobello , Christel Thauvin-Robinet

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.

European journal of human genetics : EJHG
Avec: Philippine Garret , Martin Chevarin , Antonio Vitobello , Simon Verdez , Cyril Fournier , Alain Verloes , Emilie Tisserant , Pierre Vabres , Orlane Prevel , Christophe Philippe , Anne-Sophie Denommé-Pichon , Ange-Line Bruel , Frédéric Tran Mau-Them , Hana Safraou , Aïcha Boughalem , Jean-Marc Costa , Detlef Trost , Christel Thauvin-Robinet , Laurence Faivre , Yannis Duffourd

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

American journal of human genetics
Avec: Margaux Serey-Gaut , Marisol Cortes , Periklis Makrythanasis , Mohnish Suri , Alexander M R Taylor , Jennifer A Sullivan , Ayat N Asleh , Jaba Mitra , Mohamad A Dar , Amy McNamara , Vandana Shashi , Sarah Dugan , Xiaofei Song , Jill A Rosenfeld , Christelle Cabrol , Justyna Iwaszkiewicz , Vincent Zoete , Davut Pehlivan , Zeynep Coban Akdemir , Elizabeth R Roeder , Rebecca Okashah Littlejohn , Harpreet K Dibra , Philip J Byrd , Grant S Stewart , Bilgen B Geckinli , Jennifer Posey , Rachel Westman , Chelsy Jungbluth , Jacqueline Eason , Rani Sachdev , Carey-Anne Evans , Gabrielle Lemire , Grace E VanNoy , Anne O'Donnell-Luria , Frédéric Tran Mau-Them , Aurélien Juven , Juliette Piard , Cheng Yee Nixon , Ying Zhu , Taekjip Ha , Michael F Buckley , Christel Thauvin , George K Essien Umanah , Lionel Van Maldergem , James R Lupski , Tony Roscioli , Valina L Dawson , Ted M Dawson , Stylianos E Antonarakis

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Sabbagh , Sadegheh Haghshenas , Juliette Piard , Chloé Trouvé , Jeanne Amiel , Tania Attié-Bitach , Tugce Balci , Mouna Barat-Houari , Alyce Belonis , Odile Boute , Diana S Brightman , Ange-Line Bruel , Stefano Giuseppe Caraffi , Nicolas Chatron , Corinne Collet , William Dufour , Patrick Edery , Chin-To Fong , Carlo Fusco , Vincent Gatinois , Evan Gouy , Anne-Marie Guerrot , Solveig Heide , Aakash Joshi , Natalya Karp , Boris Keren , Marion Lesieur-Sebellin , Jonathan Levy , Michael A Levy , Claire Lozano , Stanislas Lyonnet , Henri Margot , Pauline Marzin , Haley McConkey , Vincent Michaud , Gaël Nicolas , Mevyn Nizard , Alix Paulet , Francesca Peluso , Vincent Pernin , Laurence Perrin , Christophe Philippe , Chitra Prasad , Madhavi Prasad , Raissa Relator , Marlène Rio , Sophie Rondeau , Valentin Ruault , Nathalie Ruiz-Pallares , Elodie Sanchez , Debbie Shears , Victoria Mok Siu , Arthur Sorlin , Matthew Tedder , Mylène Tharreau , Frédéric Tran Mau-Them , Liselot van der Laan , Julien Van Gils , Alain Verloes , Sandra Whalen , Marjolaine Willems , Kévin Yauy , Roberta Zuntini , Jennifer Kerkhof , Bekim Sadikovic , David Geneviève

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 , 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

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Ange-Line Bruel , Antonio Vitobello , Frédéric Tran Mau-Them , Sophie Nambot , Yannis Duffourd , Virginie Quéré , Paul Kuentz , Philippine Garret , Julien Thevenon , Sébastien Moutton , Daphné Lehalle , Nolwenn Jean-Marçais , Auteur inconnu , Aurore Garde , Julian Delanne , Mathilde Lefebvre , François Lecoquierre , Detlef Trost , Megan Cho , Amber Begtrup , Aida Telegrafi , Pierre Vabres , Anne-Laure Mosca-Boidron , Patrick Callier , Christophe Philippe , Laurence Faivre , Christel Thauvin-Robinet

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 , Martin Chevarin , Antonio Vitobello , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Cell reports
Avec: Paul C Marcogliese , Samantha L Deal , Jonathan Andrews , J Michael Harnish , V Hemanjani Bhavana , Hillary K Graves , Sharayu Jangam , Xi Luo , Ning Liu , Danqing Bei , Yu-Hsin Chao , Brooke Hull , Pei-Tseng Lee , Hongling Pan , Pradnya Bhadane , Mei-Chu Huang , Colleen M Longley , Hsiao-Tuan Chao , Hyung-Lok Chung , Nele A Haelterman , Oguz Kanca , Sathiya N Manivannan , Linda Z Rossetti , Ryan J German , Amanda Gerard , Eva Maria Christina Schwaibold , Sarah Fehr , Renzo Guerrini , Annalisa Vetro , Eleina England , Chaya N Murali , Tahsin Stefan Barakat , Marieke F van Dooren , Martina Wilke , Marjon van Slegtenhorst , Gaetan Lesca , Isabelle Sabatier , Nicolas Chatron , Catherine A Brownstein , Jill A Madden , Pankaj B Agrawal , Boris Keren , Thomas Courtin , Laurence Perrin , Melanie Brugger , Timo Roser , Steffen Leiz , Julian Delanne , Elena Sukarova-Angelovska , Slavica Trajkova , Erik Rosenhahn , Vincent Strehlow , Konrad Platzer , Roberto Keller , Lisa Pavinato , Alfredo Brusco , Jill A Rosenfeld , Ronit Marom , Michael F Wangler , Shinya Yamamoto

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Thomas , Thierry Gautier , Dana Marafi , Thomas Besnard , Marjolaine Willems , Sébastien Moutton , Bertand Isidor , Benjamin Cogné , Solène Conrad , Romano Tenconi , Maria Iascone , Arthur Sorlin , Alice Masurel , Tabib Dabir , Adam Jackson , Siddharth Banka , Julian Delanne , James R Lupski , Nebal Waill Saadi , Fowzan S Alkuraya , Fatema Al Zahrani , Pankaj B Agrawal , Eleina England , Jill A Madden , Jennifer E Posey , Lydie Burglen , Diana Rodriguez , Martin Chevarin , Sylvie Nguyen , Frédéric Tran Mau-Them , Yannis Duffourd , Philippine Garret , Ange-Line Bruel , Patrick Callier , Nathalie Marle , Anne-Sophie Denomme-Pichon , Laurence Duplomb , Christophe Philippe , Christel Thauvin-Robinet , Jérôme Govin , Laurence Faivre , Antonio Vitobello

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

American journal of medical genetics. Part A
Avec: Soha Sewani , Mahshid S Azamian , Bryce A Mendelsohn , Manon Réda , Sophie Nambot , Bertrand Isidor , Jasper J van der Smagt , Joseph J Shen , Amelle Shillington , Lori White , Houda Zghal Elloumi , Peter R Baker , Shayna Svihovec , Kathleen Brown , Yvonne Koopman-Keemink , Mariette J V Hoffer , Inge M M Lakeman , Elise Brischoux-Boucher , Maria Kinali , Xiaonan Zhao , Seema R Lalani , Daryl A Scott

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

European journal of medical genetics
Avec: Servane de Masfrand , Benjamin Cogné , Mathilde Nizon , Wallid Deb , Alice Goldenberg , François Lecoquierre , Gaël Nicolas , Marie Bournez , Antonio Vitobello , Frédéric Tran Mau-Them , Gwenaël le Guyader , Frédéric Bilan , Peter Bauer , Christiane Zweier , Juliette Piard , Laurent Pasquier , Stéphane Bézieau , Bénédicte Gerard , Laurence Faivre , Pascale Saugier-Veber , Amélie Piton , Bertrand Isidor

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Christine Coubes , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Ingrid Cristian , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Nicolas Chatron , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

American journal of human genetics
Avec: Maolei Gong , Jiayi Li , Zailong Qin , Matheus Vernet Machado Bressan Wilke , Yijun Liu , Qian Li , Haoran Liu , Chen Liang , Joel A Morales-Rosado , Ana S A Cohen , Susan S Hughes , Bonnie R Sullivan , Valerie Waddell , Marie-José H van den Boogaard , Richard H van Jaarsveld , Ellen van Binsbergen , Koen L van Gassen , Tianyun Wang , Susan M Hiatt , Michelle D Amaral , Whitley V Kelley , Jianbo Zhao , Weixing Feng , Changhong Ren , Yazhen Yu , Nicole J Boczek , Matthew J Ferber , Carrie Lahner , Sherr Elliott , Yiyan Ruan , Cyril Mignot , Boris Keren , Hua Xie , Xiaoyan Wang , Bernt Popp , Christiane Zweier , Juliette Piard , Christine Coubes , Hana Safraou , A Micheil Innes , Julie Gauthier , Jacques L Michaud , Daniel C Koboldt , Odent Sylvie , Marjolaine Willems , Wen-Hann Tan , Benjamin Cogne , Claudine Rieubland , Dominique Braun , Scott Douglas McLean , Konrad Platzer , Pia Zacher , Henry Oppermann , Lucie Evenepoel , Pierre Blanc , Laïla El Khattabi , Neshatul Haque , Nikita R Dsouza , Michael T Zimmermann , Raul Urrutia , Eric W Klee , Yiping Shen , Hongzhen Du , Leonard Rappaport , Chang-Mei Liu , Xiaoli Chen

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

American journal of medical genetics. Part A
Avec: Deepika D'Cunha Burkardt , Anna Zachariou , Chey Loveday , Clare L Allen , David J Amor , Anna Ardissone , Siddharth Banka , Alexia Bourgois , Christine Coubes , Cheryl Cytrynbaum , Laurence Faivre , Gerard Marion , Rachel Horton , Dieter Kotzot , Guillermo Lay-Son , Melissa Lees , Karen Low , Ho-Ming Luk , Paul Mark , Allyn McConkie-Rosell , Marie McDonald , John Pappas , Christophe Phillipe , Deborah Shears , Brian Skotko , Fiona Stewart , Helen Stewart , I Karen Temple , Frederic T Mau-Them , Ricardo A Verdugo , Rosanna Weksberg , Yuri A Zarate , John M Graham , Katrina Tatton-Brown

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Hannah Stamberger , Trine B Hammer , Elena Gardella , Danique R M Vlaskamp , Birgitte Bertelsen , Simone Mandelstam , Iris de Lange , Jing Zhang , Candace T Myers , Christina Fenger , Zaid Afawi , Edith P Almanza Fuerte , Danielle M Andrade , Yunus Balcik , Bruria Ben Zeev , Mark F Bennett , Samuel F Berkovic , Bertrand Isidor , Arjan Bouman , Eva Brilstra , Øyvind L Busk , Anita Cairns , Roseline Caumes , Nicolas Chatron , Russell C Dale , Christa de Geus , Patrick Edery , Deepak Gill , Jacob Bie Granild-Jensen , Lauren Gunderson , Boudewijn Gunning , Gali Heimer , Johan R Helle , Michael S Hildebrand , Georgie Hollingsworth , Volodymyr Kharytonov , Eric W Klee , Bobby P C Koeleman , David A Koolen , Christian Korff , Sébastien Küry , Gaetan Lesca , Dorit Lev , Richard J Leventer , Mark T Mackay , Erica L Macke , Meriel McEntagart , Shekeeb S Mohammad , Pauline Monin , Martino Montomoli , Eva Morava , Sebastien Moutton , Alison M Muir , Elena Parrini , Peter Procopis , Emmanuelle Ranza , Laura Reed , Philipp S Reif , Felix Rosenow , Massimiliano Rossi , Lynette G Sadleir , Tara Sadoway , Helenius J Schelhaas , Amy L Schneider , Krati Shah , Ruth Shalev , Sanjay M Sisodiya , Thomas Smol , Connie T R M Stumpel , Kyra Stuurman , Joseph D Symonds , Nienke Verbeek , Judith S Verhoeven , Geoffrey Wallace , Keren Yosovich , Yuri A Zarate , Ayelet Zerem , Sameer M Zuberi , Renzo Guerrini , Heather C Mefford , Chirag Patel , Yue-Hua Zhang , Rikke S Møller , Ingrid E Scheffer

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Anaïs Begemann , Heinrich Sticht , Amber Begtrup , Antonio Vitobello , Laurence Faivre , Siddharth Banka , Bader Alhaddad , Reza Asadollahi , Jessica Becker , Tatjana Bierhals , Kathleen E Brown , Ange-Line Bruel , Theresa Brunet , Maryline Carneiro , Kirsten Cremer , Robert Day , Anne-Sophie Denommé-Pichon , Dave A Dyment , Hartmut Engels , Rachel Fisher , Elaine S Goh , M J Hajianpour , Lucia Ribeiro Machado Haertel , Nadine Hauer , Maja Hempel , Theresia Herget , Jessika Johannsen , Cornelia Kraus , Gwenaël Le Guyader , Gaetan Lesca , Frédéric Tran Mau-Them , John Henry McDermott , Kirsty McWalter , Pierre Meyer , Katrin Õunap , Bernt Popp , Tiia Reimand , Korbinian M Riedhammer , Martina Russo , Lynette G Sadleir , Margarita Saenz , Manuel Schiff , Elisabeth Schuler , Steffen Syrbe , Amelie Theresa Van der Ven , Alain Verloes , Marjolaine Willems , Christiane Zweier , Katharina Steindl , Markus Zweier , Anita Rauch

DLG4-related synaptopathy: a new rare brain disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Agustí Rodríguez-Palmero , Melissa Maria Boerrigter , David Gómez-Andrés , Kimberly A Aldinger , Íñigo Marcos-Alcalde , Bernt Popp , David B Everman , Alysia Kern Lovgren , Stephanie Arpin , Vahid Bahrambeigi , Gea Beunders , Anne-Marie Bisgaard , V A Bjerregaard , Ange-Line Bruel , Thomas D Challman , Benjamin Cogné , Christine Coubes , Stella A de Man , Anne-Sophie Denommé-Pichon , Thomas J Dye , Frances Elmslie , Lars Feuk , Sixto García-Miñaúr , Tracy Gertler , Elisa Giorgio , Nicolas Gruchy , Tobias B Haack , Chad R Haldeman-Englert , Bjørn Ivar Haukanes , Juliane Hoyer , Anna C E Hurst , Bertrand Isidor , Maria Johansson Soller , Sulagna Kushary , Malin Kvarnung , Yuval E Landau , Kathleen A Leppig , Anna Lindstrand , Lotte Kleinendorst , Alex MacKenzie , Giorgia Mandrile , Bryce A Mendelsohn , Setareh Moghadasi , Jenny E Morton , Sebastien Moutton , Amelie J Müller , Melanie O'Leary , Marta Pacio-Míguez , Maria Palomares-Bralo , Sumit Parikh , Rolph Pfundt , Ben Pode-Shakked , Anita Rauch , Elena Repnikova , Anya Revah-Politi , Meredith J Ross , Claudia A L Ruivenkamp , Elisabeth Sarrazin , Juliann M Savatt , Agatha Schlüter , Bitten Schönewolf-Greulich , Zohra Shad , Charles Shaw-Smith , Joseph T Shieh , Motti Shohat , Stephanie Spranger , Heidi Thiese , Bregje van Bon , Ineke van de Burgt , Ingrid M B H van de Laar , Esmée van Drie , Mieke M van Haelst , Conny M van Ravenswaaij-Arts , Edgard Verdura , Antonio Vitobello , Stephan Waldmüller , Sharon Whiting , Christiane Zweier , Carlos E Prada , Bert B A de Vries , William B Dobyns , Simone F Reiter , Paulino Gómez-Puertas , Aurora Pujol , Zeynep Tümer

Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.

The pharmacogenomics journal
Avec: Simon Verdez , Quentin Thomas , Philippine Garret , Céline Verstuyft , Emilie Tisserant , Antonio Vitobello , Frédéric Tran Mau-Them , Christophe Philippe , Marc Bardou , Maxime Luu , Abderrahmane Bourredjem , Patrick Callier , Christel Thauvin-Robinet , Nicolas Picard , Laurence Faivre , Yannis Duffourd

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lauriane Le Collen , Brigitte Delemer , Christine Poitou , Martine Vaxillaire , Bénédicte Toussaint , Aurélie Dechaume , Alaa Badreddine , Mathilde Boissel , Mehdi Derhourhi , Karine Clément , Jean M Petit , Frédéric Tran Mau-Them , Ange-Line Bruel , Christel Thauvin-Robinet , Alexandru Saveanu , Blandine Gatta Cherifi , Johanne Le Beyec-Le Bihan , Philippe Froguel , Amélie Bonnefond

TRIT1 deficiency: Two novel patients with four novel variants.

European journal of medical genetics
Avec: Thomas Smol , Perrine Brunelle , Roseline Caumes , Odile Boute-Benejean , Caroline Thuillier , Martin Figeac , Emilie Ait-Yahya , Fabrice Bonte , Christel Thauvin-Robinet , Laurence Faivre , Catherine Roche-Lestienne , Sylvie Manouvrier-Hanu , Florence Petit , Jamal Ghoumid

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Margaret F Lippincott , Wanxue Xu , Abigail A Smith , Xinyu Miao , Agathe Lafont , Omar Shennib , Gordon J Farley , Riwa Sabbagh , Angela Delaney , Maria Stamou , Lacey Plummer , Kathryn Salnikov , Neoklis A Georgopoulos , Veronica Mericq , Richard Quinton , Sophie Nambot , Asma Hamad , Helen Brittain , Rebecca S Tooze , Eduardo Calpena , Andrew O M Wilkie , Marjolaine Willems , William F Crowley , Ravikumar Balasubramanian , Nathalie Lamarche-Vane , Erica E Davis , Stephanie B Seminara

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG
Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Valérie Cormier-Daire , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical genetics
Avec: Marlène Malbos , Gabriella Vera , Harsh Sheth , Rhonda E Schnur , Aurélien Juven , Anne-Claire Brehin , Jayesh Sheth , Ajit Gandhi , Faye L Shapiro , Ange-Line Bruel , Florent Marguet , Amber Begtrup , Kristin G Monaghan , Hana Safraou , Marie Brasseur-Daudruy , Frédéric Tran Mau-Them , Yannis Duffourd , Laurence Faivre , Christel Thauvin-Robinet , Paul J Benke , Christophe Philippe

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
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 , 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 F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , 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

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