Algirdas Utkus

Hereditary lymphedema type I associated with <i>VEGFR3</i> mutation: the first <i>de novo</i> case and atypical presentations

Arash Ghalamkarpour, Susanne Morlot, Annick Raas‐Rothschild et al. · Clinical Genetics · 2006 · 104 citations

Medicine, Genetics, Molecular Genetics +8

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan et al. · Brain · 2020 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

Valentina Ginevičienė, Audronė Jakaitienė, Anastasiya Aksenova et al. · Biology of Sport · 2016 · 79 citations · Full text

Life Sciences, Genetics, Sports Medicine +12

Rare disease education in Europe and beyond: time to act

Biruté Tumiene, Harm Peters, Béla Melegh et al. · Orphanet Journal of Rare Diseases · 2022 · 63 citations · Full text

Public Health, Health Education, Medical Education +11

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa et al. · The American Journal of Human Genetics · 2021 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +14