Amber Begtrup

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 221 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 103 citations · Full text

Medicine, Genetics, Pediatrics +17

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Yoshiro Suzuki, David Chitayat, Hirotake Sawada et al. · The American Journal of Human Genetics · 2018 · 70 citations · Full text

Medicine, Endocrinology, Obstetrics +16

Heterozygous variants in <i>PRPF8</i> are associated with neurodevelopmental disorders

Lauren O’Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman et al. · American Journal of Medical Genetics Part A · 2022 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Andrea Accogli, Sheng‐Jia Lin, Mariasavina Severino et al. · Genetics in Medicine · 2023 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17