Marie-Jose H. van den Boogaard - Department of Medical Genetics, University Medical Center Utrecht

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论文共 58 篇作者统计合作学者相似作者

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Genetic Outcomes in Children with Developmental Language Disorder: a Systematic Review

Vivian van Wijngaarden,Hester de Wilde,Dieuwke Mink van der Molen, Jildo Petter,Inge Stegeman,Ellen Gerrits,Adriana L. Smit,Marie-Jose van den Boogaard

Frontiers in pediatrics (2024): 1315229-1315229

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The Detection of a Strong Episignature for Chung–Jansen Syndrome, Partially Overlapping with Börjeson–Forssman–Lehmann and White–Kernohan Syndromes

Niels Vos,Sadegheh Haghshenas,Liselot van der Laan, Perle K. M. Russel,Kathleen Rooney,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley McConkey,Saskia M. Maas,Lisenka E. L. M. Vissers,Bert B. A. de Vries,Rolph Pfundt,Mariet W. Elting,Johanna M. van Hagen,Nienke E. Verbeek,Marjolijn C. J. Jongmans,Phillis Lakeman,Lynne Rumping,Danielle G. M. Bosch,Antonio Vitobello,Christel Thauvin-Robinet,Laurence Faivre,Sophie Nambot,Aurore Garde,Marjolaine Willems,David Genevieve,Gaël Nicolas,Tiffany Busa,Annick Toutain,Marion Gérard,Varoona Bizaoui,Bertrand Isidor,Giuseppe Merla,Maria Accadia,Charles E. Schwartz,Katrin Ounap,Mariëtte J. V. Hoffer,Marjan M. Nezarati,Marie-José H. van den Boogaard,Matthew L. Tedder,Curtis Rogers,Alfredo Brusco,Giovanni B. Ferrero,Marta Spodenkiewicz,Richard Sidlow,Alessandro Mussa,Slavica Trajkova,Emma McCann,Henry J. Mroczkowski,Sandra Jansen, Laura Donker-Kaat,Floor A. M. Duijkers,Kyra E. Stuurman,Marcel M. A. M. Mannens,Mariëlle Alders,Peter Henneman,Susan M. White,Bekim Sadikovic,Mieke M. van Haelst

Human Geneticspp.1-13, (2024)

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MARK2 Variants Cause Autism Spectrum Disorder Via the Downregulation of WNT/β-catenin Signaling Pathway

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

The American Journal of Human Genetics (2024)

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Macrocephaly and Developmental Delay Caused by Missense Variants in RAB5C

Human molecular genetics（2023）

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Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons Between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Cathelijne C. Linders,Agnies M. van Eeghen,Janneke R. Zinkstok,Marie-Jose van den Boogaard,Erik Boot, Xingguang Luo

Genesno. 8 (2023): 1514-1514

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Delineation of a KDM2B-related Neurodevelopmental Disorder and Its Associated DNA Methylation Signature

Richard H. van Jaarsveld,Jack Reilly,Marie-Claire Cornips,Michael A. Hadders,Emanuele Agolini,Priyanka Ahimaz,Kwame Anyane-Yeboa,Severine Audebert Bellanger,Ellen van Binsbergen,Marie-Jose van den Boogaard,Elise Brischoux-Boucher,Raymond C. Caylor,Andrea Ciolfi,Ton A. J. van Essen,Paolo Fontana,Saskia Hopman,Maria Iascone, Margaret M. Javier,Erik-Jan Kamsteeg,Jennifer Kerkhof,Jun Kido,Hyung-Goo Kim,Tjitske Kleefstra,Fortunato Lonardo,Abbe Lai,Dorit Lev,Michael A. Levy,M. E. Suzanne Lewis,Angie Lichty,Marcel M. A. M. Mannens,Naomichi Matsumoto,Idit Maya,Haley McConkey,Andre Megarbane,Vincent Michaud,Evelina Miele,Marcello Niceta,Antonio Novelli,Roberta Onesimo,Rolph Pfundt,Bernt Popp,Eloise Prijoles,Raissa Relator,Sylvia Redon,Dmitrijs Rots,Karen Rouault,Ken Saida,Jolanda Schieving,Marco Tartaglia,Romano Tenconi,Kevin Uguen,Nienke Verbeek,Christopher A. Walsh,Keren Yosovich,Christopher J. Yuskaitis,Giuseppe Zampino,Bekim Sadikovic,Marielle Alders,Renske Oegema

Genetics in Medicineno. 1 (2023): 49-62

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PSMC3 Proteasome Subunit Variants Are Associated with Neurodevelopmental Delay and Type I Interferon Production

Frederic Ebstein,Sebastien Kuery,Victoria Most,Cory Rosenfelt,Marie-Pier Scott-Boyer,Geeske M. van Woerden,Thomas Besrard,Jonas Johannes Papendorf,Maja Studencka-Turski,Tianyun Wang,Tzung-Chien Hsieh,Richard Golnik,Dustin Baldridge,Cara Forster,Charlotte de Konink,Selina M. W. Teurlings,Virginie Vignard,Richard H. van Jaarsveld,Lesley Ades,Benjamin Cogne,Cyril Mignot,Wallid Deb,Marjolijn C. J. Jongmans,F. Sessions Cole,Marie-Jose H. van den Boogaard,Jennifer A. Wambach,Daniel J. Wegner,Sandra Yang,Vickie Hannig,Jennifer Ann Brault,Neda Zadeh,Bruce Bennetts,Boris Keren,Anne-Claire Gelineau,Zoee Powis,Meghan Towne,Kristine Bachman,Andrea Seeley,Anita E. Beck,Jennifer Morrison,Rachel Westman,Kelly Averill,Theresa Brunet,Judith Haasters,Melissa T. Carter,Matthew Osmond,Patricia G. Wheeler,Francesca Forzano,Shehla Mohammed,Yannis Trakadis,Andrea Accogli,Rachel Harrison,Yiran Guo,Hakon Hakonarson,Sophie Rondeau,Genevieve Baujat,Giulia Barcia,Rene Guenther Feichtinger,Johannes Adalbert Mayr,Martin Preisel,Frederic Laumonnier,Tilmann Kallinich,Alexej Knaus,Bertrand Isidor,Peter Krawitz,Uwe Voelker,Elke Hammer,Arnaud Droit,Evan E. Eichler,Ype Elgersma,Peter W. Hildebrand,Francois Bolduc,Elke Krueger,Stephane Bezieau

Science translational medicine（2023）

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Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus And/or Palate in the Netherlands

Lisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, Augusta Maria Antonia Lachmeijer,Virginie Johanna Maria Verhoeven, Johanna Maria van Hagen,Malou Heijligers, Jolien Sietske Klein Wassink-Ruiter,Saskia Koene,Saskia Mariska Maas,Hermine Elisabeth Veenstra-Knol,Johannes Kristian Ploos van Amstel,Maarten Pieter Gerrit Massink,Aebele Barber Mink van der Molen,Marie-Jose Henriette van den Boogaard

Molecular syndromology（2023）

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De Novo Putative Loss-of-function Variants in TAF4 Are Associated with a Neuro-Developmental Disorder

Human mutationno. 12 (2022): 1844-1851

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