Bret L. Bostwick

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

Ravi Savarirayan, Melita Irving, Carlos A. Bacino et al. · New England Journal of Medicine · 2019 · 219 citations · Full text

Medicine, Clinical Sciences, Pharmacotherapy +6

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas et al. · The American Journal of Human Genetics · 2018 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Medicine, Genetics, Molecular Genetics +16