Beth A. Martin

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12

Bone marrow histomorphological criteria can accurately diagnose hemophagocytic lymphohistiocytosis

Eric J. Gars, Natasha Purington, Gregory D. Scott et al. · Haematologica · 2018 · 85 citations · Full text

Medicine, Hematology, Pathology +17

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee et al. · The American Journal of Human Genetics · 2019 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17