Lefkothea Karaviti

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

Bonnie McCann‐Crosby, Roshanak Mansouri, Jennifer E. Dietrich et al. · International Journal of Pediatric Endocrinology · 2014 · 156 citations · Full text

Medicine, Endocrinology, Genetics +17

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen et al. · European Journal of Human Genetics · 2009 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Autosomal Dominant Pseudohypoaldosteronism Type 1

David S. Geller, Junhui Zhang, Maria‐Christina Zennaro et al. · Journal of the American Society of Nephrology · 2006 · 132 citations

Medicine, Endocrinology, Genetics +17

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17