Abbey Scott

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

Ronit Marom, Lindsay C. Burrage, Rossella Venditti et al. · The American Journal of Human Genetics · 2021 · 37 citations · Full text

Bone Disease, Developmental Biology, Bone Morphogenic Protein +5

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Maria João Nabais Sá, Philip J. Jensik, Stacey McGee et al. · Genetics in Medicine · 2019 · 33 citations · Full text

Allelic Variant, Developmental Biology, Genetic Disorder +10

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Johannes Münch, Marie Engesser, Ria Schönauer et al. · Kidney International · 2022 · 18 citations · Full text

Developmental Anomaly, Urology, Mendelian Disorder +10

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Tara Wenger, Abbey Scott, Lukas Kruidenier et al. · The American Journal of Human Genetics · 2025 · 14 citations · Full text

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Dianne Laboy Cintron, Alison M. Muir, Abbey Scott et al. · Human Genetics and Genomics Advances · 2021 · 11 citations · Full text