Katie Bergstrom

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

D. Williams Parsons, Angshumoy Roy, Yaping Yang et al. · JAMA Oncology · 2016 · 482 citations · Full text

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphaël Carapito, Martina Konantz, Catherine Paillard et al. · Journal of Clinical Investigation · 2017 · 166 citations · Full text

Shwachman-diamond–like Features, Engineering, Genetics +17

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Ragan Hart, Barbara B. Biesecker, Carrie L. Blout Zawatsky et al. · Genetics in Medicine · 2018 · 154 citations · Full text

Genetic Testing, Clinical Genomic Sequencing, Next-generation Sequencing +9

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 · 111 citations · Full text

Developmental Anomaly, Chromatin, Developmental Biology +13

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

Sarah Scollon, Katie Bergstrom, Robin A. Kerstein et al. · Genome Medicine · 2014 · 72 citations · Full text