Profil bibliographique

Martina Ruiterkamp‐Versteeg

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

17Publications signalées

778Citations signalées

2Affiliations récentes

Institutions déclarées

Radboud University Nijmegen Radboud University Medical Center

Domaines associés

Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesEpigenetics and DNA MethylationProtein Tyrosine Phosphatases

Publications récentes

2025 articleOpenAlex

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review

Samira Spineli‐Silva, Nicole de Leeuw, Larissa Bretanha Pontes, Nico Leijsten et autres

1 citationPsychiatric Genetics

Accès ouvert 2024 articleOpenAlex

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy et autres

21 citationsThe American Journal of Human Genetics

Accès ouvert 2024 articleOpenAlex

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel et autres

13 citationsInternational Journal of Neonatal Screening

Accès ouvert 2024 articleOpenAlex

De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops

Maayke A. de Koning, Paula Andrea Pimienta Ramírez, Monique C. Haak, Xiao Han et autres

2 citationsJournal of Medical Genetics

Accès ouvert 2022 articleOpenAlex

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen et autres

100 citationsEuropean Journal of Human Genetics

Accès ouvert 2022 articleOpenAlex

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

Ana Julia da Cunha Leite, Irene Plaza Pinto, Nico Leijsten, Martina Ruiterkamp‐Versteeg et autres

28 citationsPLoS ONE

Accès ouvert 2020 articleOpenAlex

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders et autres

77 citationsMolecular Psychiatry

Accès ouvert 2019 preprintOpenAlex

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders et autres

0 citationsbioRxiv (Cold Spring Harbor Laboratory)

Accès ouvert 2013 articleOpenAlex

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Farmaditya EP Mundhofir, Rahajeng N. Tunjungputri, Willy M. Nillesen, Bregje W.M. van Bon et autres

1 citationPaediatrica Indonesiana

Accès ouvert 2013 articleOpenAlex

Molecular analyses in Indonesian individuals with intellectual disability and microcephaly

Farmaditya EP Mundhofir, Rahajeng N. Tunjungputri, Willy M. Nillesen, Bregje WM van Bon et autres

0 citationsWahana Riset Akuntansi

Accès ouvert 2013 articleOpenAlex

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon, Alexander Hoischen et autres

98 citationsThe American Journal of Human Genetics

Accès ouvert 2013 articleOpenAlex

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer, Benjamín Rodríguez‐Santiago et autres

103 citationsClinical Genetics

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