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Lynne A. Wolfe
Lynne A. Wolfe
Verified email at nih.gov
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Cited by
Cited by
Year
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
5862014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ...
Genetics in Medicine 17 (9), 689-701, 2015
5552015
The national institutes of health undiagnosed diseases program: insights into rare diseases
WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ...
Genetics in Medicine 14 (1), 51-59, 2012
3082012
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ...
Genetics in Medicine 19 (12), 1380-1397, 2017
2812017
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Y Zhang, X Yu, M Ichikawa, JJ Lyons, S Datta, IT Lamborn, H Jing, ES Kim, ...
Journal of Allergy and Clinical Immunology 133 (5), 1400-1409. e5, 2014
2362014
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1762017
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1592017
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ...
Genetics in Medicine 19 (2), 160-168, 2017
1402017
Glycosylation, hypogammaglobulinemia, and resistance to viral infections
MA Sadat, S Moir, TW Chun, P Lusso, G Kaplan, L Wolfe, MJ Memoli, ...
New England Journal of Medicine 370 (17), 1615-1625, 2014
1392014
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
1142017
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
M He, LE Kratz, JJ Michel, AN Vallejo, L Ferris, RI Kelley, JJ Hoover, ...
The Journal of clinical investigation 121 (3), 976-984, 2011
1082011
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ...
Genetics in Medicine 18 (6), 608-617, 2016
1002016
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data …
MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ...
Molecular genetics and metabolism 114 (3), 388-396, 2015
912015
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
902018
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
JC Ravell, M Matsuda-Lennikov, SD Chauvin, J Zou, M Biancalana, ...
The Journal of clinical investigation 130 (1), 507-522, 2020
832020
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ...
Genetics in Medicine 21 (1), 161-172, 2019
762019
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
L Lawrence, M Sincan, T Markello, DR Adams, F Gill, R Godfrey, G Golas, ...
Genetics in Medicine 16 (10), 741-750, 2014
752014
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors
BG Ng, LA Wolfe, M Ichikawa, T Markello, M He, CJ Tifft, WA Gahl, ...
Human molecular genetics 24 (11), 3050-3057, 2015
732015
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
722018
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ...
The American Journal of Human Genetics 104 (1), 164-178, 2019
702019
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