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Research Interests

Papers共 191 篇Author StatisticsCo-AuthorSimilar Experts

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DDX3X-related Neurodevelopmental Disorder in Males - Presenting a New Cohort of 19 Males and a Literature Review
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）
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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)
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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）
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Author Statistics

#Papers: 192

#Citation: 15264

H-Index: 52

G-Index: 123

Sociability: 8

Diversity: 4

Activity: 20

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