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Xénia Latypova

ORCID: 0000-0003-0809-3734
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A5059489720
Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Neurogenetic and Muscular Disorders Research
  • Genomics and Rare Diseases
  • Ubiquitin and proteasome pathways
  • RNA modifications and cancer
  • Cellular transport and secretion
  • Alzheimer's disease research and treatments
  • RNA Research and Splicing
  • Congenital heart defects research
  • Genomic variations and chromosomal abnormalities
  • RNA regulation and disease
  • Cardiomyopathy and Myosin Studies
  • Genetic factors in colorectal cancer
  • Signaling Pathways in Disease
  • Cardiac electrophysiology and arrhythmias
  • Myasthenia Gravis and Thymoma
  • Muscle Physiology and Disorders
  • Microtubule and mitosis dynamics
  • Ion channel regulation and function
  • Pluripotent Stem Cells Research
  • Genetic Syndromes and Imprinting
  • Mitochondrial Function and Pathology
  • Hereditary Neurological Disorders
  • Neuroscience and Neuropharmacology Research
  • Ocular Disorders and Treatments

Assistance Publique – Hôpitaux de Paris
 2020-2024

Génétique Médicale & Génomique Fonctionelle
 2016-2024

Hôpital Robert-Debré
 2024

Institut du Thorax
 2015-2022

Inserm
 2015-2022

Grenoble Institute of Neurosciences
 2020-2022

Centre Hospitalier Universitaire de Nantes
 2016-2022

Centre Hospitalier Universitaire de Grenoble
 2020-2022

Université Grenoble Alpes
 2020-2022

Centre National de la Recherche Scientifique
 2015-2021

 RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
OPENALEX - Publications 
Emmanuelle Szenker‐Ravi Umut Altunoğlu Marc Leushacke Célia Bosso-Lefèvre Muznah Khatoo and 22 more Hong Thi Tran Thomas Naert Rivka Noelanders Amin Hajamohideen Claire Bénéteau Sérgio B. Sousa Birsen Karaman Xénia Latypova Seher Başaran Esra Börklü Thong Teck Tan Lena Vlaminck Shalini S. Nayak Anju Shukla Katta M. Girisha Cédric Le Caignec Natalia Soshnikova Zehra Oya Uyguner Kris Vleminckx Nick Barker Hülya Kayserili Bruno Reversade

10.1038/s41586-018-0118-y article EN Nature 2018-05-01
 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
OPENALEX - Publications 
Sébastien Küry Geeske M. van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova and 95 more Meghan C. Towne Megan T. Cho Trine Prescott Melissa A. Ploeg Stephan Sanders Holly A.F. Stessman Aurora Pujol Ben Distel Laurie Robak Jonathan A. Bernstein Anne‐Sophie Denommé‐Pichon Gaëtan Lesca Elizabeth A. Sellars Jonathan Berg Wilfrid Carré Øyvind L. Busk Bregje W.M. van Bon Jeff L. Waugh Matthew A. Deardorff George Hoganson Katherine B. Bosanko Diana Johnson Tabib Dabir Øystein L. Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J. Braathen Paulien A. Terhal Dorothy K. Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth Bhoj Jessica Douglas Avni Santani Addie I. Nesbitt Katherine L. Helbig Marisa V. Andrews Amber Begtrup Sha Tang Koen L.I. van Gassen Jane Juusola Kimberly Foss Gregory M. Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn A. Lincoln Brandon H. Kusako Pierre Lindenbaum Éric Charpentier C. Nowak Elouan Chérot Thomas Simonet Claudia Ruivenkamp Sihoun Hahn Donna M. Brown Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert‐Dussardier Annick Toutain V. Reid Sutton Jenny Thies Lisenka E.L.M. Peart-Vissers Pierre Boisseau Marie Vincent Andreas M. Grabrucker Christèle Dubourg Wen‐Hann Tan Nienke E. Verbeek Martin Granzow Gijs W.E. Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W. State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E. Eichler Jill A. Rosenfeld Pankaj B. Agrawal

10.1016/j.ajhg.2017.10.003 article EN publisher-specific-oa The American Journal of Human Genetics 2017-11-01
 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
OPENALEX - Publications 
Slavé Petrovski Sébastien Küry Candace T. Myers Kwame Anyane‐Yeboa Benjamin Cogné and 41 more Martin G. Bialer Fan Xia Parisa Hemati James J. Riviello Michele G. Mehaffey Thomas Besnard Emily Becraft Alexandrea Wadley Anya Revah Politi Sophie Colombo Xiaolin Zhu Zhong Ren Ian Andrews Tracy Dudding‐Byth Amy L. Schneider Geoffrey Wallace Aaron B.I. Rosen Susan Schelley Gregory M. Enns Pierre Corre Joline Dalton Sandra Mercier Xénia Latypova Sébastien Schmitt Edwin R. Guzman Christine Moore Louise Bier Erin L. Heinzen Peter Karachunski Natasha Shur Theresa A. Grebe Alice Basinger Joanne Nguyen Stéphane Bézieau Klaas J. Wierenga Jonathan A. Bernstein Ingrid E. Scheffer Jill A. Rosenfeld Heather C. Mefford Bertrand Isidor David B. Goldstein

10.1016/j.ajhg.2016.03.011 article EN publisher-specific-oa The American Journal of Human Genetics 2016-04-30
 De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
OPENALEX - Publications 
Sébastien Küry Thomas Besnard Frédéric Ebstein Tahir Naeem Khan Tomasz Gambin and 56 more Jessica Douglas Carlos A. Bacino William J. Craigen Stephan Sanders Andrea Lehmann Xénia Latypova Kamal Khan Mathilde Pacault Stephanie Sacharow Kimberly Glaser Éric Bieth Laurence Perrin‐Sabourin Marie‐Line Jacquemont Megan T. Cho Elizabeth Roeder Anne‐Sophie Denommé‐Pichon Kristin G. Monaghan Bo Yuan Fan Xia Sylvain Simon Dominique Bonneau Philippe Parent Brigitte Gilbert‐Dussardier Sylvie Odent Annick Toutain Laurent Pasquier Deborah Barbouth Chad A. Shaw Ankita Patel Janice Smith Weimin Bi Sébastien Schmitt Wallid Deb Mathilde Nizon Sandra Mercier Marie Vincent Caroline Rooryck Valérie Malan Ignacio Briceño Alberto Gómez Kimberly Nugent James B. Gibson Benjamin Cogné James R. Lupski Holly A.F. Stessman Evan E. Eichler Kyle Retterer Yaping Yang Richard Redon Nicholas Katsanis Jill A. Rosenfeld Peter‐Michael Kloetzel Christelle Golzio Stéphane Bézieau Paweł Stankiewicz Bertrand Isidor

10.1016/j.ajhg.2017.01.003 article EN publisher-specific-oa The American Journal of Human Genetics 2017-01-26
 Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine‐Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome
OPENALEX - Publications 
Mariam Jouni Karim Si‐Tayeb Zeineb Es‐Salah‐Lamoureux Xénia Latypova Benoite Champon and 8 more Amandine Caillaud Anais Rungoat Flavien Charpentier Gildas Loussouarn Isabelle Baró Kazem Zibara Patricia Lemarchand Nathalie Gaborit

Background Human genetically inherited cardiac diseases have been studied mainly in heterologous systems or animal models, independent of patients' genetic backgrounds. Because sources human cardiomyocytes ( CM s) are extremely limited, the use urine samples to generate induced pluripotent stem cell–derived s would be a noninvasive method identify dysfunctions that lead pathologies within specific The objective was validate CMs differentiated from urine‐derived (UhiPS) cells as new cellular...

10.1161/jaha.115.002159 article EN cc-by-nc-nd Journal of the American Heart Association 2015-09-16
 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
OPENALEX - Publications 
Claire Guissart Xénia Latypova Paul Rollier Tahir Naeem Khan Hannah Stamberger and 54 more Kirsty McWalter Megan T. Cho Susanne Kjærgaard Sarah Weckhuysen Gaëtan Lesca Thomas Besnard Katrin Õunap Lynn Schema Andreas G. Chiocchetti Marie McDonald Julitta de Bellescize Marie Vincent Hilde Van Esch Shannon G. Sattler Irman Forghani Isabelle Thiffault Christine M. Freitag Deborah Barbouth Maxime Cadieux‐Dion Rebecca Willaert María J. Guillen Sacoto Nicole P. Safina Christèle Dubourg Lauren Grote Wilfrid Carré Carol Saunders Sander Pajusalu Emily Farrow Anne Boland Danielle Karlowicz Jean‐François Deleuze Monica H. Wojcik Rena Pressman Bertrand Isidor Annick Vogels Wim Van Paesschen Lihadh Al‐Gazali Aisha M. Al Shamsi Mireille Claustres Aurora Pujol Stephan Sanders François Rivier Nicolas Leboucq Benjamin Cogné Souphatta Sasorith Damien Sanlaville Kyle Retterer Sylvie Odent Nicholas Katsanis Stéphane Bézieau M. Kœnig Erica E. Davis Laurent Pasquier Sébastien Küry

10.1016/j.ajhg.2018.02.021 article EN publisher-specific-oa The American Journal of Human Genetics 2018-04-12
 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
OPENALEX - Publications 
Mari Tokita Alicia Braxton Yunru Shao Andrea M. Lewis Marie Vincent and 22 more Sébastien Küry Thomas Besnard Bertrand Isidor Xénia Latypova Stéphane Bézieau Pengfei Liu Connie S. Motter Catherine Ward Melver Nathaniel H. Robin Elena Infante Marianne McGuire Areeg El‐Gharbawy Rebecca O. Littlejohn Scott D. McLean Weimin Bi Carlos A. Bacino Seema R. Lalani Daryl A. Scott Christine M. Eng Yaping Yang Christian P. Schaaf Magdalena Walkiewicz

10.1016/j.ajhg.2016.06.035 article EN publisher-specific-oa The American Journal of Human Genetics 2016-08-22
 Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
OPENALEX - Publications 
Benjamin Cogné Sophie Ehresmann Éliane Beauregard‐Lacroix Justine Rousseau Thomas Besnard and 95 more Thomas X. Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R. Blackburn Stephan Sanders Kévin Uguen Jacqueline Harris Julie S. Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T. Gordon Jennifer Humberson Laurie Robak Daryl A. Scott V. Reid Sutton Cara Skraban Jennifer J. Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H. Gerkes Ernie M.H.F. Bongers Christian Gilissen Yuri A. Zárate Malin Kvarnung Kevin P. Lally Peggy Kulch Brina Daniels Andrés Hernández Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer A. Sullivan Madeleine R. Geisheker Asbjørg Stray‐Pedersen Jennifer Tarpinian Eric W. Klee Julie C. Sapp Jacob Zyskind Øystein L. Holla Emma Bedoukian Francesca Filippini Anne Guimier A. Picard Øyvind L. Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth M. Kalb Megha Desai Ashley H. Ebanks Shalini N. Jhangiani Tammie Dewan Zeynep Coban‐Akdemir Aida Telegrafi Elaine H. Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M. Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I. Murphree Pavel N. Pichurin Katherine Agre Ralitza H. Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L. Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G. Biesecker Dan Lowenstein Jennifer E. Posey Anne‐Sophie Denommé‐Pichon Claude Férec

10.1016/j.ajhg.2019.01.010 article EN publisher-specific-oa The American Journal of Human Genetics 2019-03-01
 Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
OPENALEX - Publications 
Benjamin Cogné Xénia Latypova Lokuliyanage Dona Samudita Senaratne Ludovic Martin Daniel C. Koboldt and 72 more Georgios Kellaris Lorraine Fievet Guylène Le Meur D. Caldari Dominique Debray Mathilde Nizon Eirik Frengen Sara J. Bowne Elizabeth L. Cadena Stephen P. Daiger Kinga M. Bujakowska Eric A. Pierce Michael B. Gorin Nicholas Katsanis Stéphane Bézieau Simon M. Petersen‐Jones Laurence M. Occelli Leslie A. Lyons Laurence Legeai‐Mallet Lori S. Sullivan Erica E. Davis Bertrand Isidor Reuben M. Buckley Danielle Aberdein Paulo C. Alves Gregory S. Barsh Rebecca R. Bellone Tomas F. Bergström Adam R. Boyko Jeffrey A. Brockman Margret L. Casal Marta G. Castelhano O. Distl Nicholas H. Dodman N. Matthew Ellinwood Jonathan E. Fogle Oliver P. Forman Dorian J. Garrick Edward I. Ginns Jens Häggström Victoria L. Harvey Daisuke Hasegawa Bianca Haase Chris R. Helps Isabel Hernández Marjo K. Hytönen Maria Kaukonen Christopher B. Kaelin Tomoki Kosho Emilie Leclerc T.L. Lear Tosso Leeb Ronald H. L. Li Hannes Lohi M. Longeri Mark A. Magnuson Richard Malík Shrinivasrao P. Mane John S. Munday William J. Murphy Niels C. Pedersen Max F. Rothschild Clare Rusbridge Beth Shapiro Joshua A. Stern William F. Swanson Karen A. Terio Rory J. Todhunter Wesley C. Warren Elizabeth A. Wilcox Julia H Wildschutte Yoshihiko Yu

10.1016/j.ajhg.2020.04.005 article EN publisher-specific-oa The American Journal of Human Genetics 2020-05-07
 Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
OPENALEX - Publications 
Laura Grange John J. Reynolds Farid Ullah Bertrand Isidor Robert F. Shearer and 43 more Xénia Latypova Ryan M. Baxley Antony W. Oliver Anil Ganesh Sophie Cooke Satpal S. Jhujh Gavin S. McNee Robert M. Hollingworth Martin R. Higgs Toyoaki Natsume Tahir Naeem Khan Gabriel Ángel Martos‐Moreno Sharon Chupp Christopher G. Mathew David Parry Michael A. Simpson Nahid Nahavandi Zafer Yüksel Mojgan Drasdo Anja Kron Petra Vogt Annemarie Jonasson Saad Ahmed Seth Claudia Gonzaga‐Jauregui Karlla W. Brigatti Alexander P.A. Stegmann Masato T. Kanemaki Dragana Josifova Yuri Uchiyama Yukiko Oh Akira Morimoto Hitoshi Osaka Zineb Ammous Jesús Argente Naomichi Matsumoto Constance T. R. M. Stumpel A. Malcolm R. Taylor Andrew P. Jackson Anja‐Katrin Bielinsky Niels Mailand Cédric Le Caignec Erica E. Davis Grant S. Stewart

Abstract Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in repair replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized microcephaly, short stature chromosomal breakage. Here, we identify biallelic variants two components the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 SMC5 , 11 patients with stature, cardiac abnormalities anemia. Patient-derived cells exhibit a unique...

10.1038/s41467-022-34349-8 article EN cc-by Nature Communications 2022-11-04
 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment GeneCHAMP1Cause Syndromic Intellectual Disability
OPENALEX - Publications 
Bertrand Isidor Sébastien Küry Jill A. Rosenfeld Thomas Besnard Sébastien Schmitt and 31 more Shelagh Joss Sally Davies Robert Roger Lebel Alex Henderson Christian P. Schaaf Haley Streff Yaping Yang Vani Jain Nodoka Chida Xénia Latypova Cédric Le Caignec Benjamin Cogné Sandra Mercier Marie Vincent Estelle Colin Dominique Bonneau Anne‐Sophie Denommé‐Pichon Philippe Parent Brigitte Gilbert‐Dussardier Sylvie Odent Annick Toutain Amélie Piton Christian Dina Audrey Donnart Pierre Lindenbaum Éric Charpentier Richard Redon Kenji Iemura Masanori Ikeda Kozo Tanaka Stéphane Bézieau

A rare syndromic form of intellectual disability with impaired speech was recently found associated mutations in CHAMP1 (chromosome alignment-maintaining phosphoprotein 1), the protein product which is directly involved microtubule-kinetochore attachment. Through whole-exome sequencing six unrelated nonconsanguineous families having a sporadic case disability, we identified novel de novo truncating CHAMP1: c.1880C>G p.(Ser627*), c.1489C>T; p.(Arg497*), c.1876_1877delAG; p.(Ser626Leufs*4),...

10.1002/humu.22952 article EN Human Mutation 2016-01-11
 Further phenotypical delineation of DLG3-related neurodevelopmental disorders
OPENALEX - Publications 
Marlène Malbos Thierry Gautier Amelle Shillington Estelle Colin Xavier Le Guillou Horn and 32 more Oana Caluseriu Bertrand Isidor Benjamin Cogné Cyril Mignot Boris Keren Sacha Weber Clémence Jacquin Tracy Dudding‐Byth Daniel G. Calame Juliette Piard Jonathan Lévy Xénia Latypova Alain Verloès Tanguy Niclass Aurélia Jacquette Lori White Marie‐Pierre Moizard Hélène Dollfus Sébastien Moutton Julian Delanne Caroline Racine Quentin Thomas Anne‐Sophie Denommé‐Pichon Frédéric Tran Mau‐Them Ange‐Line Bruel Hana Safraou Christophe Philippe Yannis Duffourd Christel Thauvin‐Robinet Jérôme Govin Antonio Vitobello Laurence Faivre

<title>Abstract</title> SAP102, a member of the membrane-associated guanylate kinase proteins family, is scaffolding protein encoded by <italic>DLG3</italic> gene whose hemizygous variants with loss-of-function effect are associated X-linked Intellectual developmental disorder 90. We gathered international data from 17 new individuals 16 different (10 pathogenic and 6 uncertain significance), reviewed genotypic phenotypic 37 previously published families 34 variants. Using family...

10.21203/rs.3.rs-5998122/v1 preprint EN cc-by Research Square (Research Square) 2025-03-10
 Novel KCNB1 mutation associated with non-syndromic intellectual disability
OPENALEX - Publications 
Xénia Latypova Naomichi Matsumoto Cécile Vinceslas-Muller Stéphane Bézieau Bertrand Isidor and 1 more Noriko Miyake

10.1038/jhg.2016.154 article EN Journal of Human Genetics 2016-12-08
 A dominant vimentin variant causes a rare syndrome with premature aging
OPENALEX - Publications 
Benjamin Cogné Jamal-Eddine Bouameur Gaëlle Hayot Xénia Latypova Sundararaghavan Pattabiraman and 13 more Amandine Caillaud Karim Si‐Tayeb Thomas Besnard Sébastien Küry Caroline Chariau Anne Gaignerie Laurent David P. Bordure Daniel Kaganovich Stéphane Bézieau Christelle Golzio Thomas M. Magin Bertrand Isidor

10.1038/s41431-020-0583-2 article EN European Journal of Human Genetics 2020-02-17
 Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
OPENALEX - Publications 
Jessica X. Chong Jared C. Talbot Emily M. Teets Samantha Beck Previs Brit L. Martin and 26 more Kathryn M. Shively Colby T. Marvin Arthur S. Aylsworth Reem Saadeh‐Haddad Ulrich A. Schatz Francesca Inzana Tawfeg Ben‐Omran Fatima Almusafri Mariam AlMulla Kati J. Buckingham Tamar Harel Hagar Mor‐Shaked Periyasamy Radhakrishnan Katta M. Girisha Shalini S. Nayak Anju Shukla Klaus Dieterich Julien Fauré John Rendu Yline Capri Xénia Latypova Deborah A. Nickerson David M. Warshaw Paul M.L. Janssen Sharon L. Amacher Michael J. Bamshad

10.1016/j.ajhg.2020.06.014 article EN publisher-specific-oa The American Journal of Human Genetics 2020-07-23
 Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
OPENALEX - Publications 
Xénia Latypova Marie Vincent Alice Mollé Oluwadamilare A. Adebambo Cynthia Fourgeux and 41 more Tahir Naeem Khan Alfonso Caro‐Llopis Mónica Roselló Carmen Orellana Dmitriy Niyazov Damien Lederer Marie Deprez Yline Capri Pekka Kannus Anne Claude Tabet Jonathan Lévy Emmelien Aten Nicolette S. den Hollander Miranda Splitt Jagdeep S. Walia LaDonna Immken Paweł Stankiewicz Kirsty McWalter Sharon F. Suchy Raymond J. Louie Shannon Bell Roger E. Stevenson Justine Rousseau Catherine Willem Christelle Retière Xiang‐Jiao Yang Philippe M. Campeau Francisco Martı́nez Jill A. Rosenfeld Cédric Le Caignec Sébastien Küry Sandra Mercier Kamran Moradkhani Solène Conrad Thomas Besnard Benjamin Cogné Nicholas Katsanis Stéphane Bézieau Jérémie Poschmann Erica E. Davis Bertrand Isidor

10.1016/j.ajhg.2021.03.017 article EN publisher-specific-oa The American Journal of Human Genetics 2021-04-02
 De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
OPENALEX - Publications 
Eric N. Anderson Stephan Drukewitz Sukhleen Kour Anuradha Venkatakrishnan Chimata Deepa Rajan and 53 more Senta Schönnagel Karen Stals Deirdre E. Donnelly Siobhán O’Sullivan John F. Mantovani Tiong Yang Tan Zornitza Stark Pia Zacher Nicolas Chatron Pauline Monin Séverine Drunat Yoann Vial Xénia Latypova Jonathan Levy Alain Verloès Jennefer N. Carter Devon Bonner Suma P. Shankar Jonathan A. Bernstein Julie S. Cohen Anne M. Comi Deanna Alexis Carere Lisa Dyer Sureni V. Mullegama Pedro A. Sanchez‐Lara Katheryn Grand Hyung‐Goo Kim Afif Ben‐Mahmoud Sídney M. Gospe Rebecca S. Belles Gary A. Bellus Klaske D. Lichtenbelt Renske Oegema Anita Rauch Ivan Ivanovski Frédéric Tran Mau‐Them Aurore Garde Rachel Rabin John Pappas Annette Bley Janna Bredow Timo Wagner Eva L. Decker Carsten Bergmann Louis Domenach Henri Margot Johannes R. Lemke Rami Abou Jamra Julia Hentschel Heather C. Mefford Amit Singh Udai Bhan Pandey Konrad Platzer

Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo in KDM2A , a lysine demethylase crucial for embryonic development, 18 individuals with developmental delays and/or intellectual disabilities. The severity ranged from learning disabilities to severe disability. Other core symptoms included feeding difficulties, growth issues such as intrauterine restriction, short stature...

10.1101/2025.03.31.25324695 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2025-04-02
 Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
OPENALEX - Publications 
Margot A. Cousin Emma L. Veale Nikita R. Dsouza Swarnendu Tripathi Robyn G. Holden and 66 more Maria Arélin Geoffrey Beek Mir Reza Bekheirnia Jasmin Beygo Vikas Bhambhani Martin G. Bialer Stefania Bigoni Cyrus Boelman Jenny Carmichael Thomas Courtin Benjamin Cogné Ivana Dabaj Diane Doummar Laura Fazilleau Alessandra Ferlini Ralitza H. Gavrilova John M. Graham Tobias B. Haack Jane Juusola Sarina G. Kant Saima Kayani Boris Keren Petra Ketteler Chiara Klöckner Tamara T. Koopmann Teresa Kruisselbrink Alma Kuechler Laëtitia Lambert Xénia Latypova Robert Roger Lebel Magalie S. Leduc Emanuela Leonardi Andrea M. Lewis Wendy Liew Keren Machol Samir Mardini Kirsty McWalter Cyril Mignot Julie C. McLaughlin Alessandra Murgia Vinodh Narayanan Caroline Nava Sonja Neuser Mathilde Nizon Davide Ognibene Joohyun Park Konrad Platzer Céline Poirsier Maximilian Radtke Keri Ramsey Cassandra Runke María J. Guillen Sacoto Fernando Scaglia Marwan Shinawi Stephanie Spranger Ee Shien Tan John Taylor Anne-Sophie Trentesaux Filippo Pinto e Vairo Rebecca Willaert Neda Zadeh Raúl Urrutia Dusica Babovic‐Vuksanovic Michael T. Zimmermann Alistair Mathie Eric W. Klee

Abstract Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic phenotypic spectrum of KIS yet be the precise mechanism disease fully understood. Methods This study discovers mechanisms underlying (KIS) by describing 15 novel alterations from 47 KIS-affected individuals. We use clinical genetics...

10.1186/s13073-022-01064-4 article EN cc-by Genome Medicine 2022-06-13
 Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy
OPENALEX - Publications 
Mathilde Nizon Benjamin Cogné Jean‐Michel Vallat Madeleine Joubert Jean‐Michel Liet and 14 more Laure Simon Marie Vincent Sébastien Küry Pierre Boisseau Sébastien Schmitt Sandra Mercier Claire Bénéteau Catherine Larrose Marianne Coste Xénia Latypova Yann Péréon Jean‐Marie Mussini Stéphane Bézieau Bertrand Isidor

10.1038/ejhg.2016.142 article EN European Journal of Human Genetics 2016-10-26
 Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
OPENALEX - Publications 
Jana Willim Daniel Woike Daniel Greene Sarada Das Kevin Pfeifer and 52 more Weimin Yuan Anika Lindsey Omar A. Itani Amber L Böhme Debora Tibbe Hans-Hinrich Hönck Fatemeh Hassani Nia Michael Zech Theresa Brunet Laurence Faivre Arthur Sorlin Antonio Vitobello Thomas Smol Cindy Colson Kristin Barañano Krista Schatz Allan Bayat Kelly Schoch Rebecca C. Spillmann Erica E. Davis Erin Conboy Francesco Vetrini Konrad Platzer Sonja Neuser Janina Gburek‐Augustat Alexandra N Grace Bailey W. Mitchell Alexander P.A. 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 Verloès Jonathan Lévy Xénia Latypova Sönke Harder Gary A. Silverman Stephen C. Pak Tim Schedl Kathleen Freson Andrew Mumford Ernest Turro Christian Schlein Vandana Shashi Hans‐Jürgen Kreienkamp

10.1038/s41467-024-52095-x article EN cc-by Nature Communications 2024-09-10
 Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder
OPENALEX - Publications 
Marissa J. Maroni M. Kathryn Barton Katherine A. Lynch Ashish R. Deshwar Philip D. Campbell and 38 more James Millard Rachel Lee Annastelle Cohen Alekh Paranjapye Víctor Faúndes Gabriela M. Repetto Caoimhe McKenna Amelle L. Shillington Chanika Phornphutkul Grazia M.S. Mancini Rachel Schot Tahsin Stefan Barakat Christopher M. Richmond Julie Lauzon Ahmed Aly Ibrahim Daniel Natera‐de Benito C. Ortez Berta Estévez‐Arias François Lecoquierre Kévin Cassinari Anne-Marie Guerrot Jonathan Lévy Xénia Latypova Alain Verloes A. Micheil Innes Xiao‐Ru Yang Siddharth Banka Katharina Vill Maureen Jacob Michael C. Kruer Peter Skidmore Carolina Galaz-Montoya Somayeh Bakhtiari Jessica L. Mester Michael Granato Karim‐Jean Armache Gregory Costain Erica Korb

ABSTRACT Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, impact of loss remains unclear. Here, we present a largely female cohort 11 individuals delays dysmorphic facial features. We found that include missense clustered catalytic domain, frameshift, stop-gain variants. demonstrate specific cause activity therefore sought to define effects decreased function. Using...

10.1101/2024.10.31.24314716 preprint EN cc-by-nc-nd medRxiv (Cold Spring Harbor Laboratory) 2024-11-02
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