Débora Braslavsky

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Valerie A. Arboleda, Hane Lee, Rahul Parnaik et al. · Nature Genetics · 2012 · 207 citations

Life Sciences, Genetics, Molecular Biology +9

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj et al. · Journal of Clinical Investigation · 2017 · 175 citations · Full text

Medicine, Endocrinology, Molecular Genetics +16

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

Anita Hokken-Koelega, Manouk van der Steen, Margaret Cristina da Silva Boguszewski et al. · Endocrine Reviews · 2023 · 165 citations · Full text

Medicine, Endocrinology, Pediatrics +17

High Frequency of <b><i>MKRN3</i></b> Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

Danielle S. Bessa, Delanie B. Macedo, Vinícius Nahime Brito et al. · Neuroendocrinology · 2016 · 79 citations · Full text

Medicine, Genetics, Molecular Genetics +16

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16