Quinten Waisfisz - Department of Clinical Genetics, Vrije Universiteit Amsterdam

基本信息

浏览量：217

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 191 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Milou G P Kennis,Dmitrijs Rots,Arjan Bouman,Charlotte W Ockeloen, Caroline Boelen, Carlo L M Marcelis,Bert B A de Vries,Mariet W Elting,Quinten Waisfisz,Mohnish Suri, Esperanza Font-Montgomery, Dawn S Peck, Deirdre E Donnelly,R Curtis Rogers, Ruth Richardson,Roseline Caumes,Boris Chaumette, Cécile Louveau,Suzanne C E H Sallevelt,Saskia M Maas, Jeroen J Smits, Mieke M van Haelst, Rebecca J Levy,Helen Stewart, Bart L Loeys,Rolph Pfundt,Tjitske Kleefstra, Lot Snijders Blok

European journal of human genetics EJHG（2025）

引用0浏览0WOSNATURE引用

Perinatal Genetic Diagnostic Yield in a Population of Fetuses with the Phenotype Arthrogryposis Multiplex Congenita: a Cohort Study 2007-2021

Arda Arduç,Johanna I P De Vries, Maria B Tan-Sindhunata,Quinten Waisfisz,Eva Pajkrt, Ingeborg H Linskens

European journal of human genetics EJHG (2025)

引用0浏览0WOSNATURE引用

Phenotypic Spectrum in Weiss-Kruszka Syndrome Caused by ZNF462 Variants: Three New Patients and Literature Review

Liselot van der Laan,Lotte Kleinendorst,Johanna M. van Hagen,Quinten Waisfisz,Mieke M. van Haelst

European Journal of Medical Genetics (2024): 104964-104964

引用0浏览0WOS引用

Dominant CST3 Variants Cause Adult Onset Leukodystrophy Without Amyloid Angiopathy

Caroline G. Bergner,Marjolein Breur,M. Clara Soto-Bernardini,Lisa Schaefer,Julia Lier,Diana Le Duc,Linnaeus Bundalian,Susanna Schubert, David Brenner, Friedmar R. Kreuz,Bjoern Schulte,Quinten Waisfisz,Marianna Bugiani,Wolfgang Koehler,Heinrich Sticht,Rami Abou Jamra,Marjo S. van der Knaap

BRAINno. 10 (2024): 3562-3572

引用2浏览0WOS引用

Dora Hammerl,Maarten P.G. Massink,Marcel Smid,Carolien H.M. van Deurzen,Hanne E.J. Meijers-Heijboer,Quinten Waisfisz,Reno Debets,John W.M. Martens

openalex（2023）

引用0浏览0引用

Figure S6 from Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes

Dora Hammerl,Maarten P.G. Massink,Marcel Smid,Carolien H.M. van Deurzen,Hanne E.J. Meijers-Heijboer,Quinten Waisfisz,Reno Debets,John W.M. Martens

openalex（2023）

引用0浏览0引用

A Second Case of Glutaminase Hyperactivity: Expanding the Phenotype with Epilepsy

Lynne Rumping,Petra J. W. Pouwels,Nicole I. Wolf,Holger Rehmann,Mirjam M. C. Wamelink,Quinten Waisfisz,Judith J. M. Jans,Hubertus C. M. T. Prinsen,Jiddeke M. van de Kamp,Peter M. van Hasselt

JIMD REPORTSno. 3 (2023): 217-222

引用3浏览0WOS引用

Deleterious, Protein-Altering Variants in the Transcriptional Coregulator ZMYM3 in 27 Individuals with a Neurodevelopmental Delay Phenotype

Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,Jennifer L. Berkowitz,Michael J. Betti,Alfredo Brusco,Ashley Cannon,Giulia Caron,Yanmin Chen,Meagan E. Cochran,Tanner F. Coleman,Molly M. Crenshaw,Laurence Cuisset,Cynthia J. Curry,Hossein Darvish,Serwet Demirdas,Maria Descartes,Jessica Douglas,David A. Dyment,Houda Zghal Elloumi,Giuseppe Ermondi,Marie Faoucher,Emily G. Farrow,Stephanie A. Felker,Heather Fisher,Anna C. E. Hurst,Pascal Joset,Melissa A. Kelly,Stanislav Kmoch, Benjamin R. Leadem,Michael J. Lyons,Marina Macchiaiolo,Martin Magner,Giorgia Mandrile,Francesca Mattioli,Megan McEown,Sarah K. Meadows,Livija Medne,Naomi J. L. Meeks,Sarah Montgomery,Melanie P. Napier,Marvin Natowicz,Kimberly M. Newberry,Marcello Niceta,Lenka Noskova,Catherine B. Nowak,Amanda G. Noyes,Matthew Osmond,Eloise J. Prijoles,Jada Pugh,Verdiana Pullano,Chloe Quelin,Simin Rahimi-Aliabadi,Anita Rauch,Sylvia Redon,Alexandre Reymond,Caitlin R. Schwager,Elizabeth A. Sellars,Angela E. Scheuerle, Elena Shukarova-Angelovska,Cara Skraban,Elliot Stolerman,Bonnie R. Sullivan,Marco Tartaglia,Isabelle Thiffault,Kevin Uguen,Luis A. Umana,Yolande van Bever,Saskia N. van der Crabben,Marjon A. van Slegtenhorst,Quinten Waisfisz,Camerun Washington,Lance H. Rodan,Richard M. Myers,Gregory M. Cooper

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

引用8浏览0WOS引用

The Neurodevelopmental and Facial Phenotype in Individuals with a TRIP12 Variant

Mio Aerden,Anne-Sophie Denommé-Pichon,Dominique Bonneau,Ange-Line Bruel,Julian Delanne,Bénédicte Gérard,Benoît Mazel,Christophe Philippe,Lucile Pinson,Clément Prouteau,Audrey Putoux,Frédéric Tran Mau-Them,Éléonore Viora-Dupont,Antonio Vitobello,Alban Ziegler,Amélie Piton,Bertrand Isidor,Christine Francannet,Pierre-Yves Maillard,Sophie Julia,Anais Philippe,Elise Schaefer,Saskia Koene,Claudia Ruivenkamp,Mariette Hoffer,Eric Legius,Miel Theunis,Boris Keren,Julien Buratti,Perrine Charles,Thomas Courtin,Mala Misra-Isrie,Mieke van Haelst,Quinten Waisfisz,Dagmar Wieczorek,Ariane Schmetz,Theresia Herget,Fanny Kortüm,Jasmin Lisfeld,François-Guillaume Debray,Nuria C. Bramswig,Isis Atallah,Heidi Fodstad,Guillaume Jouret,Berta Almoguera,Saoud Tahsin-Swafiri,Fernando Santos-Simarro,Maria Palomares-Bralo,Vanesa López-González,Maria Kibaek,Pernille M. Tørring,Alessandra Renieri,Lucia Pia Bruno,Katrin Õunap,Monica Wojcik,Tzung-Chien Hsieh,Peter Krawitz,Hilde Van Esch

European Journal of Human Genetics（2023）

引用7浏览0WOSNATURE引用

A Clustering of Heterozygous Missense Variants in the Crucial Chromatin Modifier WDR5 Defines a New Neurodevelopmental Disorder

HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2023)

引用7浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn