Christel Depienne

Affiliations

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. christel.depienne@uni-due.de.
IGBMC, CNRS UMR 7104/INSERM U964/Universite de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.
Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.

Publications (73)

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 ,

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A

Avec: Ilana Chilton , Volkan Okur , Giuseppina Vitiello , Angelo Selicorni , Milena Mariani , Alice Goldenberg , Thomas Husson , Dominique Campion , Klaske D Lichtenbelt , Koen van Gassen , Michelle Steinraths , Jennifer Rice , Elizabeth R Roeder , Rebecca O Littlejohn , Myriam Srour , Guillaume Sebire , Andrea Accogli , Delphine Héron , Solveig Heide , Caroline Nava , Austin Larson , Dmitriy Niyazov , Meron Azage , George Hoganson , Jennifer Burton , Eric T Rush , Janda L Jenkins , Carol J Saunders , Isabelle Thiffault , Joseph T Alaimo , Julie Fleischer , Daniel Groepper , Karen W Gripp , Wendy K Chung

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Neurology

Avec: Andrea Accogli , Gert Wiegand , Marcello Scala , Caterina Cerminara , Michele Iacomino , Antonella Riva , Barbara Carlini , Letizia Camerota , Vincenzo Belcastro , Paolo Prontera , Alberto Fernández-Jaén , Nerses Bebek , Paolo Scudieri , Simona Baldassari , Vincenzo Salpietro , Giuseppe Novelli , Chiara De Luca , Celina von Stülpnagel , Felicitas Kluger , Gerhard Josef Kluger , Gabriele Christine Wohlrab , Georgia Ramantani , David Lewis-Smith , Rhys H Thomas , Ming Lai , Alberto Verrotti , Salvatore Striano , Carlo Minetti , Fabio Benfenati , Francesco Brancati , Federico Zara , Pasquale Striano

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.

Brain : a journal of neurology

Avec: Joanne Trinh , Theresa Lüth , Susen Schaake , Björn-Hergen Laabs , Kathleen Schlüter , Joshua Laβ , Jelena Pozojevic , Ronnie Tse , Inke König , Roland Dominic Jamora , Raymond L Rosales , Norbert Brüggemann , Gerard Saranza , Cid Czarina E Diesta , Frank J Kaiser , Christopher E Pearson , Ana Westenberger , Christine Klein

Tourette syndrome research highlights from 2020.

F1000Research

Avec: Andreas Hartmann , Cyril Atkinson-Clement , Kevin Black

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Uwe Kornak , Namrata Saha , Boris Keren , Alexander Neumann , Ana Lisa Taylor Tavares , Juliette Piard , Johannes Kopp , João Guilherme Rodrigues Alves , Miguel Rodríguez de Los Santos , Naji El Choubassi , Nadja Ehmke , Marten Jäger , Malte Spielmann , Jean Tori Pantel , Elodie Lejeune , Beatrix Fauler , Thorsten Mielke , Jochen Hecht , David Meierhofer , Tim M Strom , Vincent Laugel , Alexis Brice , Stefan Mundlos , Aida Bertoli-Avella , Peter Bauer , Florian Heyd , Odile Boute , Juliette Dupont , Lionel Van Maldergem , Björn Fischer-Zirnsak

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Skeletal muscle

Avec: Celine Chiu , Alma Küchler , Corinna Preuße , Adela Della Marina , Andre Reis , Frank J Kaiser , Kay Nolte , Andreas Hentschel , Ulrike Schara-Schmidt , Heike Kölbel , Andreas Roos

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach.

Epilepsia open

Avec: Tatiana Maroilley , Meng-Han Tsai , Rumika Mascarenhas , Catherine Diao , Maryam Khanbabaei , Sabine Kaya , Maja Tarailo-Graovac , Karl Martin Klein

Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor and other hyperkinetic movements (New York, N.Y.)

Avec: Sorana Ciura , Oriane Trouillard , Delphine Bouteiller , Elsa Leitão , Caroline Nava , Boris Keren , Yannick Marie , Justine Guegan , Sylvie Forlani , Alexis Brice , Mathieu Anheim , Yves Agid , Paul Krack , Philippe Damier , François Viallet , Jean-Luc Houeto , Franck Durif , Marie Vidailhet , Yulia Worbe , Emmanuel Roze , Edor Kabashi , Andreas Hartmann

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Nature genetics

Avec: Nika Schuermans , Salima El Chehadeh , Dimitri Hemelsoet , Jérémie Gautheron , Marie-Christine Vantyghem , Sonia Nouioua , Meriem Tazir , Corinne Vigouroux , Martine Auclair , Elke Bogaert , Sara Dufour , Fumiya Okawa , Pascale Hilbert , Nike Van Doninck , Marie-Caroline Taquet , Toon Rosseel , Griet De Clercq , Elke Debackere , Carole Van Haverbeke , Ferroudja Ramdane Cherif , Jon Andoni Urtizberea , Jean-Baptiste Chanson , Benoit Funalot , François-Jérôme Authier , Sabine Kaya , Wim Terryn , Steven Callens , Bernard Depypere , Jo Van Dorpe , Auteur inconnu , Bruce Poppe , Francis Impens , Noboru Mizushima , Isabelle Jéru , Bart Dermaut

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.

Nature communications

Avec: Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille S Bonnet , Peggy Tilly , Hélène Vitet , Chantal Weber , Carlos A Bacino , Kristin Baranaño , Anna Chassevent , Amy Dameron , Laurence Faivre , Neil A Hanchard , Sonal Mahida , Kirsty McWalter , Cyril Mignot , Caroline Nava , Agnès Rastetter , Haley Streff , Christel Thauvin-Robinet , Marjan M Weiss , Gladys Zapata , Petra J G Zwijnenburg , Frédéric Saudou , Christelle Golzio , Delphine Héron , Juliette D Godin

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Translational psychiatry

Avec: Kristy L Kolc , Lynette G Sadleir , Carla Marini , Ingrid E Scheffer , Rikke S Møller , Marina Trivisano , Nicola Specchio , Duyen Pham , Raman Kumar , Rachel Roberts , Jozef Gecz

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Nature communications

Avec: Rahel T Florian , Florian Kraft , Elsa Leitão , Sabine Kaya , Stephan Klebe , Eloi Magnin , Anne-Fleur van Rootselaar , Julien Buratti , Theresa Kühnel , Christopher Schröder , Sebastian Giesselmann , Nikolai Tschernoster , Janine Altmueller , Anaide Lamiral , Boris Keren , Caroline Nava , Delphine Bouteiller , Sylvie Forlani , Ludmila Jornea , Regina Kubica , Tao Ye , Damien Plassard , Bernard Jost , Vincent Meyer , Jean-François Deleuze , Yannick Delpu , Mario D M Avarello , Lisanne S Vijfhuizen , Gabrielle Rudolf , Edouard Hirsch , Thessa Kroes , Philipp S Reif , Felix Rosenow , Christos Ganos , Marie Vidailhet , Lionel Thivard , Alexandre Mathieu , Thomas Bourgeron , Ingo Kurth , Haloom Rafehi , Laura Steenpass , Bernhard Horsthemke , Auteur inconnu , Eric LeGuern , Karl Martin Klein , Pierre Labauge , Mark F Bennett , Melanie Bahlo , Jozef Gecz , Mark A Corbett , Marina A J Tijssen , Arn M J M van den Maagdenberg ,

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 , Frederic Tran Mau-Them , Richard J Rodenburg , Ryan J Taft , Boris Keren , John Christodoulou , Cas Simons , Gajja S Salomons , Fanny Mochel

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

American journal of human genetics

Avec: Kevin C J Nixon , Justine Rousseau , Max H Stone , Mohammed Sarikahya , Sophie Ehresmann , Seiji Mizuno , Naomichi Matsumoto , Noriko Miyake , Auteur inconnu , Diana Baralle , Shane McKee , Kosuke Izumi , Alyssa L Ritter , Solveig Heide , Delphine Héron , Hannah Titheradge , Jamie M Kramer , Philippe M Campeau

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

American journal of human genetics

Avec: Jean-Louis Mandel

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in

Cells

Avec: Adela Della Marina , Annabelle Arlt , Ulrike Schara-Schmidt , Andrea Gangfuß , Heike Kölbel , Albert Sickmann , Erik Freier , Nicolai Kohlschmidt , Andreas Hentschel , Joachim Weis , Artur Czech , Anika Grüneboom , Andreas Roos

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).

Molecular genetics and metabolism

Avec: Andrea Gangfuß , Andreas Hentschel , Lorena Heil , Maria Gonzalez , Anne Schönecker , Anna Nishimura , Diana Zengeler , Nicolai Kohlschmidt , Albert Sickmann , Ulrike Schara-Schmidt , Dieter O Fürst , Peter F M van der Ven , Andreas Hahn , Andreas Roos , Anne Schänzer

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies.

Revue neurologique

Avec: E Leitão , C Schröder , C Depienne

medRxiv : the preprint server for health sciences

Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Sarah L Stenton , Susan Walker , Alicia Ljungdahl , Jenny Lord , Vijay S Ganesh , Jialan Ma , Alexandra C Martin-Geary , Gabrielle Lemire , Elston N D'Souza , Shan Dong , Jamie M Ellingford , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Carey-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Christina L Grant , Tobias Haack , Alma Kuechler , Seema R Lalani , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Taylor M Maurer , Hector R Mendez , Stephen B Montgomery , Marie-Cécile Nassogne , Serena Neumann , Melanie O'Leary , Elizabeth E Palmer , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Tiong Yang Tan , Natalie B Tan , Suzanna El Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Daniel G MacArthur , Joanna Mm Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Nature communications

Avec: Lars Mohren , Friedrich Erdlenbruch , Elsa Leitão , Fabian Kilpert , G Sebastian Hönes , Sabine Kaya , Christopher Schröder , Andreas Thieme , Marc Sturm , Joohyun Park , Agatha Schlüter , Montserrat Ruiz , Moisés Morales de la Prida , Carlos Casasnovas , Kerstin Becker , Ulla Roggenbuck , Sonali Pechlivanis , Frank J Kaiser , Matthis Synofzik , Thomas Wirth , Mathieu Anheim , Tobias B Haack , Paul J Lockhart , Karl-Heinz Jöckel , Aurora Pujol , Stephan Klebe , Dagmar Timmann ,

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor and other hyperkinetic movements (New York, N.Y.)

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Neurobiology of disease

Avec: Kévin Duarte , Solveig Heide , Sandrine Poëa-Guyon , Véronique Rousseau , Agnès Rastetter , Caroline Nava , Tania Attié-Bitach , Ferechté Razavi , Jelena Martinovic , Marie Laure Moutard , Jacqueline Cherfils , Cyril Mignot , Delphine Héron , Jean-Vianney Barnier

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

American journal of human genetics

Avec: Susan M Hiatt , Michelle L Thompson , Jeremy W Prokop , James M J Lawlor , David E Gray , E Martina Bebin , Tuula Rinne , Marlies Kempers , Rolph Pfundt , Bregje W van Bon , Cyril Mignot , Caroline Nava , Louisa Kalsner , Anita Rauch , Pascal Joset , Ruxandra Bachmann-Gagescu , Ingrid M Wentzensen , Kirsty McWalter , Gregory M Cooper

MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

European journal of medical genetics

Avec: Katharina Khuller , Gökhan Yigit , Carolina Martínez Grijalva , Janine Altmüller , Holger Thiele , Peter Nürnberg , Nursel H Elcioglu , Burcu Yeter , Ute Hehr , Anja Stein , Adela Della Marina , Angela Köninger , Frank J Kaiser , Bernd Wollnik , Alma Kuechler

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Clinical genetics

Avec: Clarisse Delvallée , Samuel Nicaise , Manuela Antin , Anne-Sophie Leuvrey , Elsa Nourisson , Carmen C Leitch , Georgios Kellaris , Corinne Stoetzel , Véronique Geoffroy , Sophie Scheidecker , Boris Keren , Joakim Klar , Niklas Dahl , Jean-François Deleuze , Emmanuelle Génin , Richard Redon , Florence Demurger , Koenraad Devriendt , Michèle Mathieu-Dramard , Christine Poitou-Bernert , Sylvie Odent , Nicholas Katsanis , Jean-Louis Mandel , Erica E Davis , Hélène Dollfus , Jean Muller

Effects of paternal and chronological age on

Aging

Avec: Ramya Potabattula , Andreas Prell , Marcus Dittrich , Caroline Nava , Yosra Bejaoui , Nady El Hajj , Thomas Hahn , Martin Schorsch , Thomas Haaf

Expanding the phenotypic spectrum of

Brain communications

Avec: Paulo R Nóbrega , Anderson R B de Paiva , Katiane S Souza , Jorge Luiz B de Souza , Pedro Lucas G S B Lima , Delson José da Silva , Milena Sales Pitombeira , Viviennee K Borges , Daniel A Dias , Luciana M Bispo , Carolina F Santos , Fernando Freua , Paulo Diego S Silva , Isabela S Alves , Leonardo B Portella , Paulina R Cunha , Rubens Paulo A Salomao , José Luiz Pedroso , Veridiana P Miyajima , Fábio Miyajima , Elisa Cali , Charles Wade , Annapurna Sudarsanam , Mary O'Driscoll , Tom Hayton , Orlando G P Barsottini , Stephan Klebe , Fernando Kok , Leandro Tavares Lucato , Henry Houlden , David S Lynch , Pedro Braga-Neto

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Lydia von Wintzingerode , Bruria Ben-Zeev , Claudia Cesario , Katie M Chan , Orly Elpeleg , Maria Iascone , Whitley V Kelley , Marie-Cécile Nassogne , Marcello Niceta , Lidia Pezzani , Nils Rahner , Nicole Revencu , Mir Reza Bekheirnia , Teresa Santiago-Sim , Marco Tartaglia , Michelle L Thompson , Marina Trivisano , Julia Hentschel , Heinrich Sticht , Rami Abou Jamra , Henry Oppermann

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Nature communications

Avec: Elsa Leitão , Christopher Schröder , Ilaria Parenti , Carine Dalle , Agnès Rastetter , Theresa Kühnel , Alma Kuechler , Sabine Kaya , Bénédicte Gérard , Elise Schaefer , Caroline Nava , Nathalie Drouot , Camille Engel , Juliette Piard , Bénédicte Duban-Bedu , Laurent Villard , Alexander P A Stegmann , Els K Vanhoutte , Job A J Verdonschot , Frank J Kaiser , Frédéric Tran Mau-Them , Marcello Scala , Pasquale Striano , Suzanna G M Frints , Emanuela Argilli , Elliott H Sherr , Fikret Elder , Julien Buratti , Boris Keren , Cyril Mignot , Delphine Héron , Jean-Louis Mandel , Jozef Gecz , Vera M Kalscheuer , Bernhard Horsthemke , Amélie Piton ,

Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.

Epilepsia

Avec: Arn M J M van den Maagdenberg , Theresa Kühnel , Hiroyuki Ishiura , Mark A Corbett , Shoji Tsuji

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 ,

Gain-of-function variants in the ion channel gene

eLife

Avec: Lydie Burglen , Evelien Van Hoeymissen , Leila Qebibo , Magalie Barth , Newell Belnap , Felix Boschann , Katrien De Clercq , Andrew G L Douglas , Mark P Fitzgerald , Nicola Foulds , Catherine Garel , Ingo Helbig , Katharina Held , Denise Horn , Annelies Janssen , Angela M Kaindl , Vinodh Narayanan , Christina Prager , Mailys Rupin-Mas , Alexandra Afenjar , Siyuan Zhao , Vincent Th Ramaekers , Sarah M Ruggiero , Simon Thomas , Stéphanie Valence , Lionel Van Maldergem , Tibor Rohacs , Diana Rodriguez , David Dyment , Thomas Voets , Joris Vriens

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Epilepsia

Avec: Declan Gallagher , Eduardo Pérez-Palma , Tobias Bruenger , Ismael Ghanty , Eva Brilstra , Berten Ceulemans , Nicole Chemaly , Iris de Lange , Renzo Guerrini , Davide Mei , Rikke S Møller , Rima Nabbout , Brigid M Regan , Amy L Schneider , Ingrid E Scheffer , An-Sofie Schoonjans , Joseph D Symonds , Sarah Weckhuysen , Sameer M Zuberi , Dennis Lal , Andreas Brunklaus

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Avec: Andreas Thieme , Dagmar Timmann

GC-rich repeat expansions: associated disorders and mechanisms.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Avec: Christopher Schröder , Bernhard Horsthemke ,

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

American journal of human genetics

Avec: Tassja Kalm , Claudia Schob , Hanna Völler , Thatjana Gardeitchik , Christian Gilissen , Rolph Pfundt , Chiara Klöckner , Konrad Platzer , Annick Klabunde-Cherwon , Markus Ries , Steffen Syrbe , Francesca Beccaria , Francesca Madia , Marcello Scala , Federico Zara , Floris Hofstede , Marleen E H Simon , Richard H van Jaarsveld , Renske Oegema , Koen L I van Gassen , Sjoerd J B Holwerda , Tahsin Stefan Barakat , Arjan Bouman , Marjon van Slegtenhorst , Sara Álvarez , Alberto Fernández-Jaén , Javier Porta , Andrea Accogli , Margherita Maria Mancardi , Pasquale Striano , Michele Iacomino , Jong-Hee Chae , SeSong Jang , Soo Y Kim , David Chitayat , Saadet Mercimek-Andrews , Antje Kampmeier , Alma Kuechler , Harald Surowy , Enrico Silvio Bertini , Francesca Clementina Radio , Cecilia Mancini , Simone Pizzi , Marco Tartaglia , Lucas Gauthier , David Genevieve , Mylène Tharreau , Noy Azoulay , Gal Zaks-Hoffer , Nesia K Gilad , Naama Orenstein , Geneviève Bernard , Isabelle Thiffault , Jonas Denecke , Theresia Herget , Fanny Kortüm , Christian Kubisch , Robert Bähring , Stefan Kindler

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia

Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Martino Montomoli , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

Epilepsia

Avec: Andreas Brunklaus , Juanjiangmeng Du , Felix Steckler , Ismael I Ghanty , Katrine M Johannesen , Christina Dühring Fenger , Stephanie Schorge , David Baez-Nieto , Hao-Ran Wang , Andrew Allen , Jen Q Pan , Holger Lerche , Henrike Heyne , Joseph D Symonds , Sameer M Zuberi , Stephan Sanders , Beth R Sheidley , Dana Craiu , Heather E Olson , Sarah Weckhuysen , Peter DeJonge , Ingo Helbig , Hilde Van Esch , Tiffany Busa , Matthieu Milh , Bertrand Isidor , Annapurna Poduri , Arthur J Campbell , Jordane Dimidschstein , Rikke S Møller , Dennis Lal

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

American journal of human genetics

Avec: Dara Tolchin , Jessica P Yeager , Priya Prasad , Naghmeh Dorrani , Alvaro Serrano Russi , Julian A Martinez-Agosto , Abdul Haseeb , Marco Angelozzi , G W E Santen , Claudia Ruivenkamp , Saadet Mercimek-Andrews , Alma Kuechler , Barbara Mikat , Hermann-Josef Ludecke , Frederic Bilan , Gwenael Le Guyader , Brigitte Gilbert-Dussardier , Boris Keren , Solveig Heide , Damien Haye , Hilde Van Esch , Liesbeth Keldermans , Damara Ortiz , Emily Lancaster , Ian D Krantz , Bryan L Krock , Kieran B Pechter , Alexandre Arkader , Livija Medne , Elizabeth T DeChene , Eduardo Calpena , Giada Melistaccio , Andrew O M Wilkie , Mohnish Suri , Nicola Foulds , Auteur inconnu , Amber Begtrup , Lindsay B Henderson , Cara Forster , Patrick Reed , Marie T McDonald , Allyn McConkie-Rosell , Julien Thevenon , Pauline Le Tanno , Charles Coutton , Anne C H Tsai , Sarah Stewart , Ales Maver , Rudolf Gorazd , Olivier Pichon , Mathilde Nizon , Benjamin Cogné , Bertrand Isidor , Dominique Martin-Coignard , Radka Stoeva , Véronique Lefebvre , Cédric Le Caignec

Dravet Syndrome in Lebanon: First Report on Cases with

Case reports in medicine

Avec: Saada Alame , Eliane El-Houwayek , Caroline Nava , Sandra Sabbagh , Ali Fawaz , Anne-Celine Gillart , Dana Hasbini , André Mégarbané

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nature communications

Avec: Mark A Corbett , Thessa Kroes , Liana Veneziano , Mark F Bennett , Rahel Florian , Amy L Schneider , Antonietta Coppola , Laura Licchetta , Silvana Franceschetti , Antonio Suppa , Aaron Wenger , Davide Mei , Manuela Pendziwiat , Sabine Kaya , Massimo Delledonne , Rachel Straussberg , Luciano Xumerle , Brigid Regan , Douglas Crompton , Anne-Fleur van Rootselaar , Anthony Correll , Rachael Catford , Francesca Bisulli , Shreyasee Chakraborty , Sara Baldassari , Paolo Tinuper , Kirston Barton , Shaun Carswell , Martin Smith , Alfredo Berardelli , Renee Carroll , Alison Gardner , Kathryn L Friend , Ilan Blatt , Michele Iacomino , Carlo Di Bonaventura , Salvatore Striano , Julien Buratti , Boris Keren , Caroline Nava , Sylvie Forlani , Gabrielle Rudolf , Edouard Hirsch , Eric Leguern , Pierre Labauge , Simona Balestrini , Josemir W Sander , Zaid Afawi , Ingo Helbig , Hiroyuki Ishiura , Shoji Tsuji , Sanjay M Sisodiya , Giorgio Casari , Lynette G Sadleir , Riaan van Coller , Marina A J Tijssen , Karl Martin Klein , Arn M J M van den Maagdenberg , Federico Zara , Renzo Guerrini , Samuel F Berkovic , Tommaso Pippucci , Laura Canafoglia , Melanie Bahlo , Pasquale Striano , Ingrid E Scheffer , Francesco Brancati , Jozef Gecz

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Human mutation

Avec: Rojeen Niazi , Elizabeth A Fanning , Mahdi Sarmady , Ahmad N Abou Tayoun

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 , Cyril Mignot

Development and Validation of a Prediction Model for Early Diagnosis of

Neurology

Avec: Andreas Brunklaus , Eduardo Pérez-Palma , Ismael Ghanty , Ji Xinge , Eva Brilstra , Berten Ceulemans , Nicole Chemaly , Iris de Lange , Renzo Guerrini , Davide Mei , Rikke S Møller , Rima Nabbout , Brigid M Regan , Amy L Schneider , Ingrid E Scheffer , An-Sofie Schoonjans , Joseph D Symonds , Sarah Weckhuysen , Michael W Kattan , Sameer M Zuberi , Dennis Lal

SCN1A-related epilepsy with recessive inheritance: Two further families.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Raffaella Moretti , Lionel Arnaud , Delphine Bouteiller , Oriane Trouillard , Patricia Moreau , Julien Buratti , Agnès Rastetter , Boris Keren , Vincent Des Portes , Joseph Toulouse , Isabelle Gourfinkel-An , Eric Leguern , Cyril Mignot , Caroline Nava

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

Brain : a journal of neurology

Avec: Andreas Roos , Peter F M van der Ven , Hadil Alrohaif , Heike Kölbel , Lorena Heil , Adela Della Marina , Joachim Weis , Marvin Aßent , Stefanie Beck-Wödl , Rita Barresi , Ana Töpf , Kaela O'Connor , Albert Sickmann , Nicolai Kohlschmidt , Magdeldin El Gizouli , Nancy Meyer , Nassam Daya , Valentina Grande , Karin Bois , Frank J Kaiser , Matthias Vorgerd , Christopher Schröder , Ulrike Schara-Schmidt , Andrea Gangfuss , Teresinha Evangelista , Luisa Röbisch , Andreas Hentschel , Anika Grüneboom , Dieter O Fuerst , Alma Kuechler , Andreas Tzschach , Hanns Lochmüller

Further characterisation of

Journal of medical genetics

Avec: Mathilde Gras , Solveig Heide , Boris Keren , Stéphanie Valence , Catherine Garel , Sandra Whalen , Anna C Jansen , Kathelijn Keymolen , Katrien Stouffs , Mélanie Jennesson , Céline Poirsier , Gaetan Lesca , Caroline Nava , Agnès Rastetter , Aurore Curie , Laurence Cuisset , Vincent Des Portes , Mathieu Milh , Perrine Charles , Cyril Mignot , Delphine Héron

Intronic

Journal of neurology, neurosurgery, and psychiatry

Avec: David Pellerin , Carlo Wilke , Andreas Traschütz , Sara Nagy , Riccardo Currò , Marie-Josée Dicaire , Hector Garcia-Moreno , Mathieu Anheim , Thomas Wirth , Jennifer Faber , Dagmar Timmann , Dan Rujescu , José Gazulla , Mary M Reilly , Paola Giunti , Bernard Brais , Henry Houlden , Ludger Schöls , Michael Strupp , Andrea Cortese , Matthis Synofzik

Frontiers in cell and developmental biology

Avec: Antje Kampmeier , Elsa Leitão , Ilaria Parenti , Jasmin Beygo , Nuria C Bramswig , Tzung-Chien Hsieh , Alexandra Afenjar , Stefanie Beck-Wödl , Ute Grasshoff , Tobias B Haack , Emilia K Bijlsma , Claudia Ruivenkamp , Eva Lausberg , Miriam Elbracht , Maria K Haanpää , Hannele Koillinen , Uwe Heinrich , Imma Rost , Rami Abou Jamra , Denny Popp , Margarete Koch-Hogrebe , Kevin Rostasy , Vanesa López-González , María José Sanchez-Soler , Catarina Macedo , Ariane Schmetz , Carmen Steinborn , Sabine Weidensee , Hellen Lesmann , Felix Marbach , Pilar Caro , Christian P Schaaf , Peter Krawitz , Dagmar Wieczorek , Frank J Kaiser , Alma Kuechler

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

Biological psychiatry

Avec: Fotis Tsetsos , Apostolia Topaloudi , Pritesh Jain , Zhiyu Yang , Dongmei Yu , Petros Kolovos , Zeynep Tumer , Renata Rizzo , Andreas Hartmann , Yulia Worbe , Kirsten R Müller-Vahl , Danielle C Cath , Dorret I Boomsma , Tomasz Wolanczyk , Cezary Zekanowski , Csaba Barta , Zsofia Nemoda , Zsanett Tarnok , Shanmukha S Padmanabhuni , Joseph D Buxbaum , Dorothy Grice , Jeffrey Glennon , Hreinn Stefansson , Bastian Hengerer , Evangelia Yannaki , John A Stamatoyannopoulos , Noa Benaroya-Milshtein , Francesco Cardona , Tammy Hedderly , Isobel Heyman , Chaim Huyser , Pablo Mir , Astrid Morer , Norbert Mueller , Alexander Munchau , Kerstin J Plessen , Cesare Porcelli , Veit Roessner , Susanne Walitza , Anette Schrag , Davide Martino , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Jay A Tischfield , Gary A Heiman , A Jeremy Willsey , Andrea Dietrich , Lea K Davis , James J Crowley , Carol A Mathews , Jeremiah M Scharf , Marianthi Georgitsi , Pieter J Hoekstra , Peristera Paschou

Novel Variants of

International journal of molecular sciences

Avec: Martin Grosse , Alma Kuechler , Tabib Dabir , Stephanie Spranger , Stefanie Beck-Wödl , Miriam Bertrand , Tobias B Haack , Corinna Grasemann , Eva Manka , Frank J Kaiser

Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Avec: Lorenz Peters , Stephan Klebe

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Nature

Avec: Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Alicia Ljungdahl , Sarah L Stenton , Susan Walker , Jenny Lord , Gabrielle Lemire , Alexandra C Martin-Geary , Vijay S Ganesh , Jialan Ma , Jamie M Ellingford , Erwan Delage , Elston N D'Souza , Shan Dong , David R Adams , Kirsten Allan , Madhura Bakshi , Erin E Baldwin , Seth I Berger , Jonathan A Bernstein , Ishita Bhatnagar , Ed Blair , Natasha J Brown , Lindsay C Burrage , Kimberly Chapman , David J Coman , Alison G Compton , Chloe A Cunningham , Precilla D'Souza , Petr Danecek , Emmanuèle C Délot , Kerith-Rae Dias , Ellen R Elias , Frances Elmslie , Care-Anne Evans , Lisa Ewans , Kimberly Ezell , Jamie L Fraser , Lyndon Gallacher , Casie A Genetti , Anne Goriely , Christina L Grant , Tobias Haack , Jenny E Higgs , Anjali G Hinch , Matthew E Hurles , Alma Kuechler , Katherine L Lachlan , Seema R Lalani , François Lecoquierre , Elsa Leitão , Anna Le Fevre , Richard J Leventer , Jan E Liebelt , Sarah Lindsay , Paul J Lockhart , Alan S Ma , Ellen F Macnamara , Sahar Mansour , Taylor M Maurer , Hector R Mendez , Kay Metcalfe , Stephen B Montgomery , Mariya Moosajee , Marie-Cécile Nassogne , Serena Neumann , Michael O'Donoghue , Melanie O'Leary , Elizabeth E Palmer , Nikhil Pattani , John Phillips , Georgia Pitsava , Ryan Pysar , Heidi L Rehm , Chloe M Reuter , Nicole Revencu , Angelika Riess , Rocio Rius , Lance Rodan , Tony Roscioli , Jill A Rosenfeld , Rani Sachdev , Charles J Shaw-Smith , Cas Simons , Sanjay M Sisodiya , Penny Snell , Laura St Clair , Zornitza Stark , Helen S Stewart , Tiong Yang Tan , Natalie B Tan , Suzanna E L Temple , David R Thorburn , Cynthia J Tifft , Eloise Uebergang , Grace E VanNoy , Pradeep Vasudevan , Eric Vilain , David H Viskochil , Laura Wedd , Matthew T Wheeler , Susan M White , Monica Wojcik , Lynne A Wolfe , Zoe Wolfenson , Caroline F Wright , Changrui Xiao , David Zocche , John L Rubenstein , Eirene Markenscoff-Papadimitriou , Sebastian M Fica , Diana Baralle , Daniel G MacArthur , Joanna M M Howson , Stephan J Sanders , Anne O'Donnell-Luria , Nicola Whiffin

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Annals of neurology

Avec: Vincent Moya Quiros , Ahmed Adham , Philippe Convers , Gaetan Lesca , François Mauguiere , Hugo Soulier , Alexis Arzimanoglou , Allan Bayat , Hilde Braakman , Jean-Philippe Camdessanche , Philippe Casenave , Laurence Chaton , Yves Chaix , Maxime Chochoi , Vincent Desportes , Jessie De Ridder , Vera Dinkelacker , Elena Gardella , Gerhard J Kluger , Julien Jung , Martine Lemesle Martin , Maria Margherita Mancardi , Markus Mueller , Anne-Lise Poulat , Konrad Platzer , Agathe Roubertie , Marijn F Stokman , Anneke T Vulto-van Silfhout , Gert Wiegand , Laure Mazzola

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.

The American journal of psychiatry

Avec: Dongmei Yu , Jae Hoon Sul , Fotis Tsetsos , Muhammad S Nawaz , Alden Y Huang , Ivette Zelaya , Cornelia Illmann , Lisa Osiecki , Sabrina M Darrow , Matthew E Hirschtritt , Erica Greenberg , Kirsten R Muller-Vahl , Manfred Stuhrmann , Yves Dion , Guy Rouleau , Harald Aschauer , Mara Stamenkovic , Monika Schlögelhofer , Paul Sandor , Cathy L Barr , Marco Grados , Harvey S Singer , Markus M Nöthen , Johannes Hebebrand , Anke Hinney , Robert A King , Thomas V Fernandez , Csaba Barta , Zsanett Tarnok , Peter Nagy , Yulia Worbe , Andreas Hartmann , Cathy L Budman , Renata Rizzo , Gholson J Lyon , William M McMahon , James R Batterson , Danielle C Cath , Irene A Malaty , Michael S Okun , Cheston Berlin , Douglas W Woods , Paul C Lee , Joseph Jankovic , Mary M Robertson , Donald L Gilbert , Lawrence W Brown , Barbara J Coffey , Andrea Dietrich , Pieter J Hoekstra , Samuel Kuperman , Samuel H Zinner , Pétur Luðvigsson , Evald Sæmundsen , Ólafur Thorarensen , Gil Atzmon , Nir Barzilai , Michael Wagner , Rainald Moessner , Roel Ophoff , Carlos N Pato , Michele T Pato , James A Knowles , Joshua L Roffman , Jordan W Smoller , Randy L Buckner , A Jeremy Willsey , Jay A Tischfield , Gary A Heiman , Hreinn Stefansson , Kári Stefansson , Danielle Posthuma , Nancy J Cox , David L Pauls , Nelson B Freimer , Benjamin M Neale , Lea K Davis , Peristera Paschou , Giovanni Coppola , Carol A Mathews , Jeremiah M Scharf , Auteur inconnu

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

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Ash Zawerton , Cyril Mignot , Ashley Sigafoos , Patrick R Blackburn , Abdul Haseeb , Kirsty McWalter , Shoji Ichikawa , Caroline Nava , Boris Keren , Perrine Charles , Isabelle Marey , Anne-Claude Tabet , Jonathan Levy , Laurence Perrin , Andreas Hartmann , Gaetan Lesca , Caroline Schluth-Bolard , Pauline Monin , Sophie Dupuis-Girod , Maria J Guillen Sacoto , Rhonda E Schnur , Zehua Zhu , Alice Poisson , Salima El Chehadeh , Yves Alembik , Ange-Line Bruel , Daphné Lehalle , Sophie Nambot , Sébastien Moutton , Sylvie Odent , Sylvie Jaillard , Christèle Dubourg , Yvonne Hilhorst-Hofstee , Tina Barbaro-Dieber , Lucia Ortega , Elizabeth J Bhoj , Diane Masser-Frye , Lynne M Bird , Kristin Lindstrom , Keri M Ramsey , Vinodh Narayanan , Emily Fassi , Marcia Willing , Trevor Cole , Claire G Salter , Rhoda Akilapa , Anthony Vandersteen , Natalie Canham , Patrick Rump , Erica H Gerkes , Jolien S Klein Wassink-Ruiter , Emilia Bijlsma , Mariëtte J V Hoffer , Marcelo Vargas , Antonina Wojcik , Florian Cherik , Christine Francannet , Jill A Rosenfeld , Keren Machol , Daryl A Scott , Carlos A Bacino , Xia Wang , Gary D Clark , Marta Bertoli , Simon Zwolinski , Rhys H Thomas , Ela Akay , Richard C Chang , Rebekah Bressi , Rossana Sanchez Russo , Myriam Srour , Laura Russell , Anne-Marie E Goyette , Lucie Dupuis , Roberto Mendoza-Londono , Catherine Karimov , Maries Joseph , Mathilde Nizon , Benjamin Cogné , Alma Kuechler , Amélie Piton , Auteur inconnu , Eric W Klee , Véronique Lefebvre , Karl J Clark ,

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Human mutation

Avec: Gemma L Carvill , Katherine L Helbig , Candace T Myers , Marcello Scala , Robert Huether , Sara Lewis , Tyler N Kruer , Brandon S Guida , Somayeh Bakhtiari , Joy Sebe , Sha Tang , Heather Stickney , Sehribani Ulusoy Oktay , Ashwin A Bhandiwad , Keri Ramsey , Vinodh Narayanan , Timothy Feyma , Luis O Rohena , Andrea Accogli , Mariasavina Severino , Georgina Hollingsworth , Deepak Gill , Caroline Nava , Lynette G Sadleir , Paul A Caruso , Angela E Lin , Floor E Jansen , Bobby Koeleman , Eva Brilstra , Marjolein H Willemsen , Tjitske Kleefstra , Joaquim Sa , Marie-Laure Mathieu , Laurine Perrin , Gaetan Lesca , Pasquale Striano , Giorgio Casari , Ingrid E Scheffer , David Raible , Evelyn Sattlegger , Valeria Capra , Sergio Padilla-Lopez , Heather C Mefford , Michael C Kruer

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Developmental medicine and child neurology

Avec: Megan Spencer-Smith , Jacquelyn L Knight , Emmanuelle Lacaze , Auteur inconnu , Paul J Lockhart , Linda J Richards , Delphine Heron , Richard J Leventer , Gail A Robinson

Tremor-like subcortical myoclonus in STXBP1 encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Anna Loussouarn , Diane Doummar , Yara Beaugendre , Thierry Bienvenu , Perrine Charles , Nathalie Dorison , Solveig Heide , Delphine Héron , Christine Ioos , Boris Keren , Julia Métreau , Fanny Mochel , Marie-Laure Moutard , Claudia Ravelli , Emmanuelle Apartis , Cyril Mignot

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Brain : a journal of neurology

Avec: Fanny Mochel , Agnès Rastetter , Berten Ceulemans , Konrad Platzer , Sandra Yang , Deepali N Shinde , Katherine L Helbig , Diego Lopergolo , Francesca Mari , Alessandra Renieri , Elisa Benetti , Roberto Canitano , Quinten Waisfisz , Astrid S Plomp , Sylvia A Huisman , Golder N Wilson , Sara S Cathey , Raymond J Louie , Daniela Del Gaudio , Darrel Waggoner , Shawn Kacker , Kimberly M Nugent , Elizabeth R Roeder , Ange-Line Bruel , Julien Thevenon , Nadja Ehmke , Denise Horn , Manuel Holtgrewe , Frank J Kaiser , Susanne B Kamphausen , Rami Abou Jamra , Sarah Weckhuysen , Carine Dalle ,

Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Translational psychiatry

Avec: Fotis Tsetsos , Dongmei Yu , Jae Hoon Sul , Alden Y Huang , Cornelia Illmann , Lisa Osiecki , Sabrina M Darrow , Matthew E Hirschtritt , Erica Greenberg , Kirsten R Muller-Vahl , Manfred Stuhrmann , Yves Dion , Guy A Rouleau , Harald Aschauer , Mara Stamenkovic , Monika Schlögelhofer , Paul Sandor , Cathy L Barr , Marco A Grados , Harvey S Singer , Markus M Nöthen , Johannes Hebebrand , Anke Hinney , Robert A King , Thomas V Fernandez , Csaba Barta , Zsanett Tarnok , Peter Nagy , Yulia Worbe , Andreas Hartmann , Cathy L Budman , Renata Rizzo , Gholson J Lyon , William M McMahon , James R Batterson , Danielle C Cath , Irene A Malaty , Michael S Okun , Cheston Berlin , Douglas W Woods , Paul C Lee , Joseph Jankovic , Mary M Robertson , Donald L Gilbert , Lawrence W Brown , Barbara J Coffey , Andrea Dietrich , Pieter J Hoekstra , Samuel Kuperman , Samuel H Zinner , Michael Wagner , James A Knowles , A Jeremy Willsey , Jay A Tischfield , Gary A Heiman , Nancy J Cox , Nelson B Freimer , Benjamin M Neale , Lea K Davis , Giovanni Coppola , Carol A Mathews , Jeremiah M Scharf , Peristera Paschou , Auteur inconnu , Cathy L Barr , James R Batterson , Cheston Berlin , Cathy L Budman , Danielle C Cath , Giovanni Coppola , Nancy J Cox , Sabrina Darrow , Lea K Davis , Yves Dion , Nelson B Freimer , Marco A Grados , Erica Greenberg , Matthew E Hirschtritt , Alden Y Huang , Cornelia Illmann , Robert A King , Roger Kurlan , James F Leckman , Gholson J Lyon , Irene A Malaty , Carol A Mathews , William M McMahon , Benjamin M Neale , Michael S Okun , Lisa Osiecki , Mary M Robertson , Guy A Rouleau , Paul Sandor , Jeremiah M Scharf , Harvey S Singer , Jan H Smit , Jae Hoon Sul , Dongmei Yu , Auteur inconnu , Harald Aschauer Harald Aschauer , Csaba Barta , Cathy L Budman , Danielle C Cath , Andreas Hartmann , Johannes Hebebrand , Anastasios Konstantinidis , Carol A Mathews , Kirsten Müller-Vahl , Peter Nagy , Markus M Nöthen , Peristera Paschou , Renata Rizzo , Guy A Rouleau , Paul Sandor , Jeremiah M Scharf , Monika Schlögelhofer , Mara Stamenkovic , Manfred Stuhrmann , Fotis Tsetsos , Zsanett Tarnok , Tomasz Wolanczyk , Yulia Worbe , Auteur inconnu , Lawrence Brown , Keun-Ah Cheon , Barbara J Coffey , Andrea Dietrich , Thomas V Fernandez , Blanca Garcia-Delgar , Donald Gilbert , Dorothy E Grice , Julie Hagstrøm , Tammy Hedderly , Gary A Heiman , Isobel Heyman , Pieter J Hoekstra , Chaim Huyser , Young Key Kim , Young-Shin Kim , Robert A King , Yun-Joo Koh , Sodahm Kook , Samuel Kuperman , Bennett L Leventhal , Marcos Madruga-Garrido , Pablo Mir , Astrid Morer , Alexander Münchau , Kerstin J Plessen , Veit Roessner , Eun-Young Shin , Dong-Ho Song , Jungeun Song , Jay A Tischfield , A Jeremy Willsey , Samuel Zinner , Auteur inconnu , Harald Aschauer , Cathy L Barr , Csaba Barta , James R Batterson , Cheston Berlin , Lawrence Brown , Cathy L Budman , Danielle C Cath , Barbara J Coffey , Giovanni Coppola , Nancy J Cox , Sabrina Darrow , Lea K Davis , Andrea Dietrich , Yves Dion , Thomas Fernandez , Nelson B Freimer , Donald Gilbert , Marco A Grados , Erica Greenberg , Andreas Hartmann , Johannes Hebebrand , Gary Heiman , Matthew E Hirschtritt , Pieter Hoekstra , Alden Y Huang , Cornelia Illmann , Joseph Jankovic , Robert A King , Samuel Kuperman , Paul C Lee , Gholson J Lyon , Irene A Malaty , Carol A Mathews , William M McMahon , Kirsten Müller-Vahl , Peter Nagy , Benjamin M Neale , Markus M Nöthen , Michael S Okun , Lisa Osiecki , Peristera Paschou , Renata Rizzo , Mary M Robertson , Guy A Rouleau , Paul Sandor , Jeremiah M Scharf , Monika Schlögelhofer , Harvey S Singer , Mara Stamenkovic , Manfred Stuhrmann , Jae Hoon Sul , Zsanett Tarnok , Jay Tischfield , Fotis Tsetsos , A Jeremy Willsey , Douglas Woods , Yulia Worbe , Dongmei Yu , Samuel Zinner

Evidence of mosaicism in SPAST variant carriers in four French families.

European journal of human genetics : EJHG

Avec: Chloé Angelini , Cyril Goizet , Samia Ait Said , William Camu , Bénédicte Heron , Bophara Kol , Marine Guillaud-Bataille , Perrine Pennamen , Caroline Rooryck , Clarisse Scherer-Gagou , Laurène Tissier , Giovanni Stevanin , Eric Leguern , Guillaume Banneau

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

American journal of human genetics

Avec: Joery den Hoed , Elke de Boer , Norine Voisin , Alexander J M Dingemans , Nicolas Guex , Laurens Wiel , Christoffer Nellaker , Shivarajan M Amudhavalli , Siddharth Banka , Frederique S Bena , Bruria Ben-Zeev , Vincent R Bonagura , Ange-Line Bruel , Theresa Brunet , Han G Brunner , Hui B Chew , Jacqueline Chrast , Loreta Cimbalistienė , Hilary Coon , Auteur inconnu , Emmanuèlle C Délot , Florence Démurger , Anne-Sophie Denommé-Pichon , Dian Donnai , David A Dyment , Orly Elpeleg , Laurence Faivre , Christian Gilissen , Leslie Granger , Benjamin Haber , Yasuo Hachiya , Yasmin Hamzavi Abedi , Jennifer Hanebeck , Jayne Y Hehir-Kwa , Brooke Horist , Toshiyuki Itai , Adam Jackson , Rosalyn Jewell , Kelly L Jones , Shelagh Joss , Hirofumi Kashii , Mitsuhiro Kato , Anja A Kattentidt-Mouravieva , Fernando Kok , Urania Kotzaeridou , Vidya Krishnamurthy , Vaidutis Kučinskas , Alma Kuechler , Alinoë Lavillaureix , Pengfei Liu , Linda Manwaring , Naomichi Matsumoto , Benoît Mazel , Kirsty McWalter , Vardiella Meiner , Mohamad A Mikati , Satoko Miyatake , Takeshi Mizuguchi , Lip H Moey , Shehla Mohammed , Hagar Mor-Shaked , Hayley Mountford , Ruth Newbury-Ecob , Sylvie Odent , Laura Orec , Matthew Osmond , Timothy B Palculict , Michael Parker , Andrea K Petersen , Rolph Pfundt , Eglė Preikšaitienė , Kelly Radtke , Emmanuelle Ranza , Jill A Rosenfeld , Teresa Santiago-Sim , Caitlin Schwager , Margje Sinnema , Lot Snijders Blok , Rebecca C Spillmann , Alexander P A Stegmann , Isabelle Thiffault , Linh Tran , Adi Vaknin-Dembinsky , Juliana H Vedovato-Dos-Santos , Samantha A Schrier Vergano , Eric Vilain , Antonio Vitobello , Matias Wagner , Androu Waheeb , Marcia Willing , Britton Zuccarelli , Usha Kini , Dianne F Newbury , Tjitske Kleefstra , Alexandre Reymond , Simon E Fisher , Lisenka E L M Vissers

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Livia Parodi , Mathieu Barbier , Maxime Jacoupy , Claire Pujol , François-Xavier Lejeune , Pauline Lallemant-Dudek , Typhaine Esteves , Maartje Pennings , Erik-Jan Kamsteeg , Marine Guillaud-Bataille , Guillaume Banneau , Giulia Coarelli , Badreddine Mohand Oumoussa , Matthew J Fraidakis , Giovanni Stevanin , Bart van de Warrenburg , Alexis Brice , Alexandra Durr

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

Clinical genetics

Avec: Minna Kraatari-Tiri , Leila Soikkonen , Matti Myllykoski , Yalda Jamshidi , Ehsan G Karimiani , Jonna Komulainen-Ebrahim , Hanna Kallankari , Cyril Mignot , Boris Keren , Marie-Christine Nougues , Zahra Alsahlawi , Antonio Romito , Javier Martini , Mehran B Toosi , Christopher J Carroll , Kornelia Tripolszki , Peter Bauer , Johanna Uusimaa , Aida M Bertoli-Avella , Peppi Koivunen , Elisa Rahikkala

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.

Movement disorders : official journal of the Movement Disorder Society

Avec: Angela Rosenbohm , Hendrik Pott , Mirja Thomsen , Haloom Rafehi , Sabine Kaya , Silke Szymczak , Alexander E Volk , Kathrin Mueller , Isabel Silveira , Jochen H Weishaupt , Holger Tönnies , Philip Seibler , Katja Zschiedrich , Susen Schaake , Ana Westenberger , Christine Zühlke , Joanne Trinh , Albert C Ludolph , Christine Klein , Melanie Bahlo , Katja Lohmann

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.

Translational psychiatry

Avec: Pritesh Jain , Tyne Miller-Fleming , Apostolia Topaloudi , Dongmei Yu , Petros Drineas , Marianthi Georgitsi , Zhiyu Yang , Renata Rizzo , Kirsten R Müller-Vahl , Zeynep Tumer , Nanette Mol Debes , Andreas Hartmann , Yulia Worbe , Pablo Mir , Danielle C Cath , Dorret I Boomsma , Veit Roessner , Tomasz Wolanczyk , Piotr Janik , Natalia Szejko , Cezary Zekanowski , Csaba Barta , Zsofia Nemoda , Zsanett Tarnok , Joseph D Buxbaum , Dorothy Grice , Jeffrey Glennon , Hreinn Stefansson , Bastian Hengerer , Noa Benaroya-Milshtein , Francesco Cardona , Tammy Hedderly , Isobel Heyman , Chaim Huyser , Astrid Morer , Norbert Mueller , Alexander Munchau , Kerstin J Plessen , Cesare Porcelli , Susanne Walitza , Anette Schrag , Davide Martino , Auteur inconnu , Auteur inconnu , Andrea Dietrich , Auteur inconnu , Carol A Mathews , Jeremiah M Scharf , Pieter J Hoekstra , Lea K Davis , Peristera Paschou

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.

Annals of physical and rehabilitation medicine

Avec: Pauline Lallemant-Dudek , Livia Parodi , Giulia Coarelli , Anna Heinzmann , Perrine Charles , Claire Ewenczyk , Silvia Fenu , Marie-Lorraine Monin , Philippe Corcia , Fanny Mochel , Jean Benard , Sophie Tezenas du Montcel , Alexandra Durr

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Epilepsia

Avec: Mark A Corbett , Liana Veneziano , Karl Martin Klein , Francesco Brancati , Renzo Guerrini , Federico Zara , Shoji Tsuji , Jozef Gecz

Loss-of-function variants in

Journal of medical genetics

Avec: Solveig Heide , Emanuela Argilli , Stéphanie Valence , Lucile Boutaud , Nathalie Roux , Cyril Mignot , Caroline Nava , Boris Keren , Kim Giraudat , Anne Faudet , Anna Gerasimenko , Catherine Garel , Eleonore Blondiaux , Agnès Rastetter , David Grevent , Carolyn Le , Lisa Mackenzie , Linda Richards , Tania Attié-Bitach , Elliott Sherr , Delphine Héron

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 , 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 , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

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