Marjolein H Willemsen - Department of Human Genetics, Radboud University Nijmegen Medical Centre

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Clinical Features and Genotype-Phenotype Correlations in Epilepsy Patients with De Novo DYNC1H1 Variants

Claudia Cuccurullo,Emanuele Cerulli Irelli,Lorenzo Ugga,Antonella Riva,Alessandra D'Amico,Sara Cabet,Gaetan Lesca,Leonilda Bilo,Federico Zara,Catrinel Iliescu,Diana Barca,France Fung,Katherine Helbig,Xilma Ortiz-Gonzalez,Helenius J. Schelhaas,Marjolein H. Willemsen,Inge van der Linden,Laura Canafoglia,Carolina Courage, Samuele Gommaraschi,Pedro Gonzalez-Alegre,Tanya Bardakjian,Steffen Syrbe,Elisabeth Schuler,Johannes R. Lemke,Stella Vari, Gitte Roende,Mads Bak, Mahbulul Huq,Zoe Powis,Katrine M. Johannesen,Trine Bjorg Hammer,Rikke S. Moller,Rachel Rabin,John Pappas,Mary L. Zupanc,Neda Zadeh,Julie Cohen,Sakkubai Naidu,Ilona Krey,Russell Saneto,Jenny Thies,Laura Licchetta,Paolo Tinuper,Francesca Bisulli,Raffaella Minardi,Allan Bayat,Nathalie Villeneuve,Florence Molinari,Hormos Salimi Dafsari, Birk Moller, Marie Le Roux,Clara Houdayer,Marilena Vecchi,Isabella Mammi,Elena Fiorini,Jacopo Proietti, Sofia Ferri,Gaetano Cantalupo,Domenica Immacolata Battaglia,Maria Luigia Gambardella,Ilaria Contaldo,Claudia Brogna,Marina Trivisano,Angela De Dominicis,Stefania Maria Bova,Elena Gardella,Pasquale Striano,Antonietta Coppola

Epilepsia（2024）

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PhenomAD-NDD: the Phenomics Aggregation Database of Comorbidities in 42,411 Pediatric Individuals with NeuroDevelopmental Disorders

Alexander Dingemans,Sandra Jansen,Jeroen van Reeuwijk, Claudia Hellebrekers,Nicole de Leeuw,Rolph Pfundt,Janneke Schuurs-Hoeijmakers,Bregje van Bon,Charlotte Ockeloen,Carlo Marcelis,Marjolein Willemsen, Eline van der Sluijs,Gijs Santen,Frank Kooy, Anneke Vulto-van Silfhout,Tjitske Kleefstra,David Koolen,Lisenka Vissers,Bert B. A. de Vries

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 60-60

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Adaptor Protein 2 Sigma Subunit (AP2S1) Variants Associated with Neurodevelopmental Disorders

Mark Stevenson,Asha L Bayliss,Victoria J Stokes,Katherine A English,Kreepa G Kooblall,Roman Fischer,Raphael Heilig,Iolanda Vendrell, Maria E W A Albers, Meghan Bartos,Amber Begtrup,Alexia Bourgois,Rebecca Buchert,David J Carey, Deanna A Carere,Amanda Carnevale,Kristl G Claeys,Benjamin Cogne,Gregory Costain,Nicole de Leeuw,Anne-Sophie Denommé-Pichon,Elizabeth J Donner,Eftychia Drogouti,David A Dyment,Balram Gangaram,Tobias B Haack,Jeremy S Haley,Solveig Heide, Ralf A Hussain,Bertrand Isidor,Louise Izatt,Adeline Jacquinet,Jane Juusola, Juliette J Kahle,Boris Keren,Eric W Klee,Evgenia Kokosali,Brendan C Lanpher,Erica L Macke,Elysa J Marco,Kirsty McWalter,Bryce A Mendelsohn, Aubrey Milunshy, Matthew Osmond,Amelie Piton,Angelika Riess,Valentin Ruault,Patrick Rump,Sarah Schuhmann, Amelle L Shillington,Diane T Smelser,Lot Snijders Blok,Frederic Tran Mau-Them,Christos Tsakalidis, Abigail Turnwald,Koen L I Van Gassen,Kristof Van Schil,Georgia Vasileiou,Marissa Vawter-Lee,Marjolaine Willems,Marjolein H Willemsen,Lily C Wong-Kisiel, Antje Wonneberger,Ioannis Zaganas,Genomics England Research Consortium,Fadil M Hannan,Kate E Lines,Rajesh V Thakker

medrxiv（2024）

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A Recurrent De Novo MAX P.arg60gln Variant Causes a Syndromic Overgrowth Disorder Through Differential Expression of C-Myc Target Genes

Erica L. Harris, Vincent Roy,Martin Montagne,Ailsa M. S. Rose, Helen Livesey,Margot R. F. Reijnders,Emma Hobson,Francis H. Sansbury,Marjolein H. Willemsen,Rolph Pfundt,Daniel Warren,Vernon Long,Ian M. Carr,Han G. Brunner,Eamonn G. Sheridan,Helen V. Firth,Pierre Lavigne,James A. Poulter

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)

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Expanding the Phenotype of ASXL3-related Syndrome: a Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3 (vol 185A, Pg 3446, 2021)

Schaida Schirwani,Albaba J. Shadi,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Cinzia Costa,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Tyler Mark Pierson,Meena Balasubramanian

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 310-310

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A Solve-RD ClinVar-based Reanalysis of 1522 Index Cases from ERN-ITHACA Reveals Common Pitfalls and Misinterpretations in Exome Sequencing

Genetics in Medicineno. 4 (2023): 100018

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Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-related Neurodevelopmental Condition

Elizabeth E. Palmer,Michael Pusch,Alessandra Picollo, Caitlin Forwood,Matthew H. Nguyen,Vanessa Suckow, Jessica Gibbons,Alva Hoff,Lisa Sigfrid,Andre Megarbane,Mathilde Nizon,Benjamin Cogné,Claire Beneteau,Fowzan S. Alkuraya,Aziza Chedrawi,Mais O. Hashem,Hannah Stamberger,Sarah Weckhuysen,Arnaud Vanlander,Berten Ceulemans,Sulekha Rajagopalan,Kenneth Nunn,Stéphanie Arpin,Martine Raynaud,Constance S. Motter,Catherine Ward-Melver,Katrien Janssens,Marije Meuwissen,Diane Beysen,Nicola Dikow,Mona Grimmel,Tobias B. Haack,Emma Clement,Amy McTague,David Hunt,Sharron Townshend,Michelle Ward,Linda J. Richards,Cas Simons,Gregory Costain,Lucie Dupuis,Roberto Mendoza-Londono,Tracy Dudding-Byth,Jackie Boyle,Carol Saunders,Emily Fleming,Salima El Chehadeh,Marie-Aude Spitz,Amelie Piton,Bénédicte Gerard,Marie-Thérèse Abi Warde,Gillian Rea,Caoimhe McKenna,Sofia Douzgou,Siddharth Banka,Cigdem Akman,Jennifer M. Bain,Tristan T. Sands,Golder N. Wilson, Erin J. Silvertooth, Lauren Miller,Damien Lederer,Rani Sachdev,Rebecca Macintosh,Olivier Monestier,Deniz Karadurmus,Felicity Collins,Melissa Carter,Luis Rohena,Marjolein H. Willemsen,Charlotte W. Ockeloen,Rolph Pfundt,Sanne D. Kroft,Michael Field,Francisco E. R. Laranjeira,Ana M. Fortuna,Ana R. Soares,Vincent Michaud,Sophie Naudion,Sailaja Golla,David D. Weaver,Lynne M. Bird,Jennifer Friedman,Virginia Clowes,Shelagh Joss,Laura Pölsler,Philippe M. Campeau,Maria Blazo,Emilia K. Bijlsma,Jill A. Rosenfeld,Christian Beetz,Zöe Powis,Kirsty McWalter,Tracy Brandt,Erin Torti, Mikaël Mathot,Shekeeb S. Mohammad,Ruth Armstrong,Vera M. Kalscheuer

MOLECULAR PSYCHIATRYno. 2 (2023): 668-697

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