The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey
Marjoleine F Broekema, Florian Violon, Patricia Vaduva, Maartje Vogel et autres
0 citationsFamilial Cancer
Nicole de Leeuw
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200Publications signalées
11229Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects researchPrenatal Screening and Diagnostics
Publications récentes
Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder
Milou G. P. Kennis, Leenke van Haaften, Karen van Hulst, Rolph Pfundt et autres
0 citationsEuropean Journal of Human Genetics
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath, Wolfram Höps et autres
4 citationsNew England Journal of Medicine
Clinical long-read genome sequencing for rare disease diagnostics
Tessa J.J. de Bitter, Bart van der Sanden, Lydia Sagath, Wolfram Höps et autres
2 citationsmedRxiv
Pathogenic Variants in TUBGCP6 of Familial Microcephaly and Chorioretinopathy
Sultana MH Faradz, Peter Ivan Hadiprajitno, Rina Susanti Chen, Muhamad Rifqy Setyanto et autres
0 citationsJournal of Health Science and Medical Research
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene
Ieke B. Ginjaar, Marjolein Kriek, Mariette J. V. Hoffer, Renske Oegema et autres
1 citationNeuromuscular Disorders
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor et autres
1 citationAmerican Journal of Medical Genetics Part A
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
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family
Samira Spineli‐Silva, Larissa Bretanha Pontes, Nicole de Leeuw, Gabriela Roldão Correia‐Costa et autres
6 citationsAmerican Journal of Medical Genetics Part A
Novel variants in the SOX11 gene: clinical description of seven new patients
Beatriz Schincariol-Manhe, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa et autres
3 citationsEuropean Journal of Human Genetics
Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience
Manon S. Oud, Nicole de Leeuw, Dominique Smeets, Liliana Ramos et autres
18 citationsAndrology
Adaptor protein 2 sigma subunit ( AP2S1 ) variants associated with neurodevelopmental disorders
Mark Stevenson, Asha L. Bayliss, Victoria Stokes, Katherine English et autres
1 citationmedRxiv
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