Sabina Gallati

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 511 citations · Full text

Urology, Ophthalmology, Medicine +7

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 321 citations · Full text

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Effect of Allergic Bronchopulmonary Aspergillosis on Lung Function in Children with Cystic Fibrosis

Richard Kraemer, Natascha Deloséa, Pietro Ballinari et al. · American Journal of Respiratory and Critical Care Medicine · 2006 · 178 citations