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Lynne A. Wolfe | Researchclopedia

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Lynne A. Wolfe

National Institutes of Health ORCID

182

Works

7,049

Citations

47

h-index

107

i10-index

Research Topics

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Glycosylation and Glycoproteins Research

Affiliations

National Institutes of Health2011–2025

RELX Group (Netherlands)2019–2019

MACOM (United States)2014–2014

Harvard University2023–2023

University of Pittsburgh2011–2011

Top Works

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh,Amy Goldstein,et al.

2014588 citations

Metabolism and Genetic Disorders

Mitochondrial Function and Pathology

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice,Yoandris del Toro Duany,et al.

2014587 citations

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl,Thomas C. Markello,et al.

2012287 citations

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh,Amy Goldstein,et al.

2017286 citations

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Yu Zhang,Xiaomin Yu,et al.

2014242 citations

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam,Carlos R. Ferreira,et al.

2016146 citations

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Mohammed Sadat,Susan Moir,et al.

2014143 citations

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao,Mariska Davids,et al.

2016120 citations

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

Miao He,Lisa E. Kratz,et al.

2011113 citations