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Jean M. Johnston
Observed names:
J. Johnston,
Jean Johnston,
Jean M Johnston,
Johnston, Jean
Institution:
National Human Genome Research Institute
Observed institutions:
National Institutes of Health,
Children's National,
National Human Genome Research Institute,
Office of the Director,
NIH Common Fund
OpenAlex ID:
A5032550349
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
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
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
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
2019
·
Elena-Raluca Nicoli
, Mary R. Weston
, et al.
·
The American Journal of Human Genetics
·
95
PDF
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
·
85
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
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
2020
·
Dongxue Mao
, Chloe M. Reuter
, et al.
·
The American Journal of Human Genetics
·
68
PDF
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
2019
·
Brett V. Johnson
, Raman Kumar
, et al.
·
Biological Psychiatry
·
68
PDF
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
2017
·
Heather L. Gray-Edwards
, Debra S. Regier
, et al.
·
Molecular Therapy
·
57
PDF
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
2019
·
Oguz Kanca
, Jonathan C. Andrews
, et al.
·
The American Journal of Human Genetics
·
54
PDF
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
2019
·
Andrea Accogli
, Sara Calabretta
, et al.
·
The American Journal of Human Genetics
·
53
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
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020
·
Pauline E Schneeberger
, Fanny Kortüm
, et al.
·
Brain
·
48
PDF
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
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis
2015
·
Debra S. Regier
, Hyuk Joon Kwon
, et al.
·
American Journal of Medical Genetics Part A
·
40
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
·
37
PDF
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
2019
·
Vandana Shashi
, Janelle Geist
, et al.
·
Human Mutation
·
30
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
·
28
IRF2BPL Is Associated with Neurological Phenotypes
2018
·
Paul C. Marcogliese
, Vandana Shashi
, et al.
·
The American Journal of Human Genetics
·
23
PDF
GM1 gangliosidosis type II: Results of a 10-year prospective study
2024
·
Precilla D’Souza
, Cristan Farmer
, et al.
·
Genetics in Medicine
·
20
PDF
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
2021
·
Jennifer E. Kyle
, Kelly G. Stratton
, et al.
·
Scientific Data
·
17
PDF
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder
2022
·
Scott Barish
, Mumine Senturk
, et al.
·
Human Molecular Genetics
·
16
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Works count:
73
Citation count:
1,850
H-index:
22
I10-index:
30
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