Brenna Boyd

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

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Medicine, Molecular Genetics, Neurology +13

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch, Cecilia Esteves, Anna Bican et al. · Genetics in Medicine · 2020 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16