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Michele E. Nehrebecky
Observed names:
MIchele Nehrebecky,
Michele Nehrebecky
Observed institutions:
National Institutes of Health,
Sanford Burnham Prebys Medical Discovery Institute,
University of California San Diego,
Rady Children's Hospital-San Diego,
National Human Genome Research Institute,
Office of the Director,
National Cancer Institute,
NIH Common Fund
show all 8
OpenAlex ID:
A5074368103
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
2020
·
David B. Beck
, Marcela A. Ferrada
, et al.
·
New England Journal of Medicine
·
1,204
PDF
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
2012
·
William A. Gahl
, Thomas C. Markello
, et al.
·
Genetics in Medicine
·
291
PDF
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
2017
·
Julia Wang
, Rami Al-Ouran
, et al.
·
The American Journal of Human Genetics
·
204
PDF
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
2017
·
Rachel B. Ramoni
, John J. Mulvihill
, et al.
·
The American Journal of Human Genetics
·
179
PDF
Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
2020
·
Yong Hwan Park
, Elaine F. Remmers
, et al.
·
Nature Immunology
·
154
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
2016
·
Hsiao-Tuan Chao
, Mariska Davids
, et al.
·
The American Journal of Human Genetics
·
115
PDF
IRF2BPL Is Associated with Neurological Phenotypes
2018
·
Paul C. Marcogliese
, Vandana Shashi
, et al.
·
The American Journal of Human Genetics
·
110
PDF
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
2015
·
William P. Bone
, Nicole L. Washington
, et al.
·
Genetics in Medicine
·
103
PDF
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
2018
·
Monika Oláhová
, Wan Hee Yoon
, et al.
·
The American Journal of Human Genetics
·
96
PDF
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
2022
·
Karyl S. Barron
, Ivona Aksentijevich
, et al.
·
Frontiers in Immunology
·
91
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
2018
·
Keren Machol
, Justine Rousseau
, et al.
·
The American Journal of Human Genetics
·
86
PDF
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
2016
·
Vandana Shashi
, Vandana Shashi
, et al.
·
The American Journal of Human Genetics
·
86
PDF
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome
2023
·
Hratch Baghdassarian
, Sarah A. Blackstone
, et al.
·
New England Journal of Medicine
·
83
PDF
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
2018
·
Vandana Shashi
, Vandana Shashi
, et al.
·
Genetics in Medicine
·
76
PDF
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
2022
·
Christina Torres Kozycki
, Shilpa Kodati
, et al.
·
Annals of the Rheumatic Diseases
·
73
PDF
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
2014
·
Lauren Lawrence
, Murat Sincan
, et al.
·
Genetics in Medicine
·
68
PDF
DDX58 and Classic Singleton-Merten Syndrome
2018
·
Carlos R. Ferreira
, Yanick J. Crow
, et al.
·
Journal of Clinical Immunology
·
61
PDF
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
2017
·
Loren D.M. Pena
, Yong-Hui Jiang
, et al.
·
Genetics in Medicine
·
50
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
2017
·
Kelly Schoch
, Linyan Meng
, et al.
·
The American Journal of Human Genetics
·
48
PDF
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
2024
·
Hirotsugu Oda
, Kalpana Manthiram
, et al.
·
Nature Immunology
·
38
PDF
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
2019
·
Lindsay C. Burrage
, John J. Reynolds
, et al.
·
The American Journal of Human Genetics
·
38
PDF
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
2017
·
Timothy Gall
, Elise Valkanas
, et al.
·
Frontiers in Medicine
·
30
PDF
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
2023
·
Shyam K. Akula
, Jack H. Marciano
, et al.
·
Proceedings of the National Academy of Sciences
·
29
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
2018
·
Marie Morimoto
, Helen Waller-Evans
, et al.
·
The American Journal of Human Genetics
·
29
PDF
Defective ciliogenesis in INPP5E‐related Joubert syndrome
2017
·
Isabel Hardee
, Ariane Soldatos
, et al.
·
American Journal of Medical Genetics Part A
·
28
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Works count:
36
Citation count:
3,476
H-index:
25
I10-index:
30
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