Thomas Smol - Maladies RAres Du Developpement Embryonnaire et Du Metabolisme, Univ. Lille

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论文共 91 篇作者统计合作学者相似作者

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

Pauline Bordeneuve-Plante,Simon Boussion,Mélanie Rama,Perrine Brunelle,Caroline Thuillier,Clémence Vanlerberghe,Roseline Caumes,Cindy Colson,Emilie Ait-Yahya,Jamal Ghoumid,Thomas Smol

American journal of medical genetics. Part App.e63820-e63820, (2024)

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Comparison of the ABC and ACMG Systems for Variant Classification

Gunnar Houge,Eirik Bratland,Ingvild Aukrust,Kristian Tveten,Gabriele Zukauskaite,Ivona Sansovic,Alejandro J. Brea-Fernandez, Karin Mayer, Teija Paakkola,Caoimhe McKenna, William Wright,Milica Keckarevic Markovic,Dorte L. Lildballe, Michal Konecny,Thomas Smol,Pia Alhopuro, Estelle Arnaud Gouttenoire, Katharina Obeid, Albena Todorova,Milena Jankovic, Joanna M. Lubieniecka,Maja Stojiljkovic,Marie-Pierre Buisine,Bjorn Ivar Haukanes, Marie Lorans,Hanno Roomere, Francois M. Petit,Maria K. Haanpaa,Claire Beneteau, Belen Perez,Dijana Plaseska-Karanfilska, Matthias Rath,Nico Fuhrmann,Bibiana I. Ferreira,Coralea Stephanou,Wenche Sjursen,Ales Maver,Cecile Rouzier,Adela Chirita-Emandi, Joao Goncalves, Wei Cheng David Kuek,Martin Broly,Lonneke Haer-Wigman,Meow-Keong Thong, Sok-Kun Tae,Michaela Hyblova,Johan T. den Dunnen,Andreas Laner

European journal of human genetics (2024)

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RPL26 Variants: a Rare Cause of Diamond-Blackfan Anemia Syndrome with Multiple Congenital Anomalies at the Forefront

Clémence Vanlerberghe, Frédéric Frénois,Thomas Smol,Anne-Sophie Jourdain, Fabienne Escande, Emilie Aït-Yahya, Abdulrahman A. Aldeeri, Timothy W. Yu, Valérie Cormier-Daire,Jamal Ghoumid, Maureen Jacob, Ruth Newbury-Ecob, Sylvie Manouvrier,Jessica Platon, Sebastian Sailer,Perrine Brunelle, Lydie Da Costa,Florence Petit

Genetics in Medicinepp.101266, (2024)

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Identification of a Novel CFAP61 Homozygous Splicing Variant Associated with Multiple Morphological Abnormalities of the Flagella

Anne-Laure Barbotin,Angèle Boursier,Anne-Sophie Jourdain,Alexandre Moerman, Baptiste Rabat, Mariam Chehimi,Caroline Thuillier,Jamal Ghoumid,Thomas Smol

Journal of Assisted Reproduction and Geneticspp.1-7, (2024)

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Variants in LRRC7 Lead to Intellectual Disability, Autism, Aggression and Abnormal Eating Behaviors

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

Nature Communicationsno. 1 (2024): 1-18

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Loss-of-function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Patrick R Blackburn,Frédéric Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna C Herkert,Tuula Rinne,Isabelle Thiffault,Michele Rapp,Mariel Alders,Saskia Maas,Bénédicte Gerard,Thomas Smol,Catherine Vincent-Delorme,Benjamin Cogné,Bertrand Isidor,Marie Vincent,Ruxandra Bachmann-Gagescu,Anita Rauch,Pascal Joset,Giovanni Battista Ferrero,Andrea Ciolfi,Thomas Husson,Anne-Marie Guerrot,Carlos Bacino,Colleen Macmurdo,Stephanie S Thompson,Jill A Rosenfeld,Laurence Faivre,Frederic Tran Mau-Them,Wallid Deb,Virginie Vignard,Pankaj B Agrawal,Jill A Madden,Alice Goldenberg,François Lecoquierre,Michael Zech,Holger Prokisch,Ján Necpál,Robert Jech,Juliane Winkelmann,Monika Turčanová Koprušáková,Vassiliki Konstantopoulou,John R Younce,Marwan Shinawi,Chloe Mighton, Charlotte Fung,Chantal 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

Annals of neurology (2024)

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Recurrent “outsider” Intronic Variation in the SLC5A6 Gene Causes Severe Mixed Axonal and Demyelinating Neuropathy, Cyclic Vomiting and Optic Atrophy in 3 Families from Maghreb

Lamisse Mansour-Hendili,Cyril Gitiaux,Madeleine Harion, Celine Latouche,Benedicte Heron,Tanya Stojkovic,Melanie Rama,Thomas Smol,Anne Sophie Jourdain,Karine Mention,Yann Nadjar,Manuel Schiff,Julie Lemale,Jamal Ghoumid, Frederic Gottrand,Cecile Talbotec,Agnes Rotig,Benoit Funalot,Isabelle Desguerre

Frontiers in genetics (2024)

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Splice Site Variants in the Canonical Donor Site of MED13L Exon 7 Lead to Intron Retention in Patients with MED13L Syndrome

Jade Fauqueux, Simon Boussion, Caroline Thuillier, Evine Meurisse,Didier Lacombe, Marjolaine Willems,Amélie Piton, Emilie Ait-Yahya, Jamal Ghoumid,Thomas Smol

Journal of medical genetics (2024)

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Fiona Leduc,Thomas Smol,Benoit Catteau,Odile Boute,Florence Petit

EUROPEAN JOURNAL OF MEDICAL GENETICS（2024）

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Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

medRxiv : the preprint server for health sciences (2024)

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