Lea Velsher

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Marlies Kempers, Roland P. Kuiper, Charlotte W. Ockeloen et al. · The Lancet Oncology · 2010 · 293 citations · Full text

Medicine, Oncology, Pathology +15

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski et al. · Human Genetics · 2013 · 76 citations

Medicine, Developmental Biology, Molecular Genetics +15

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan et al. · Journal of Medical Genetics · 2016 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +17

MRI Surveillance and Breast Cancer Mortality in Women With <i>BRCA1</i> and <i>BRCA2</i> Sequence Variations

Jan Lubiński, Joanne Kotsopoulos, Pål Møller et al. · JAMA Oncology · 2024 · 73 citations · Full text

Medicine, Oncology, Radiology +17

Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up

Millan S. Patel, John W. Callahan, Sunqu Zhang et al. · American Journal of Medical Genetics · 1999 · 45 citations

Medicine, Pathology, Pediatrics +15