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Noah D. Friedman

Observed name: Noah D Friedman
OpenAlex ID: A5075587174
Tumour lineage shapes BRCA-mediated phenotypes
2019 · Philip Jonsson, Chaitanya Bandlamudi, et al. · Nature · 402
The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers
2022 · Ezra Y. Rosen, Helen H. Won, et al. · Nature Communications · 120
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IRF2BPL Is Associated with Neurological Phenotypes
2018 · Paul C. Marcogliese, Vandana Shashi, et al. · The American Journal of Human Genetics · 110
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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
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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
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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
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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
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Phase and context shape the function of composite oncogenic mutations
2020 · Alexander N. Gorelick, Francisco J. Sánchez-Rivera, et al. · Nature · 46
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
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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 · 29
IRF2BPL Is Associated with Neurological Phenotypes
2018 · Paul C. Marcogliese, Vandana Shashi, et al. · The American Journal of Human Genetics · 23
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Author Correction: Tumour lineage shapes BRCA-mediated phenotypes
2019 · Philip Jonsson, Chaitanya Bandlamudi, et al. · Nature · 20
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A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
2021 · Jennifer E. Kyle, Kelly G. Stratton, et al. · Scientific Data · 17
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Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
2018 · Keren Machol, Joseph Jankovic, et al. · Neurology Genetics · 8
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Genomics in medicine: a novel elective rotation for internal medicine residents
2019 · Linda N Geng, Jennefer N Kohler, et al. · Postgraduate Medical Journal · 7
Author Correction: The evolution of RET inhibitor resistance in RET-driven lung and thyroid cancers
2022 · Ezra Y. Rosen, Helen H. Won, et al. · Nature Communications · 2
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Abstract 1752: BRCA-mediated tumorigenesis is origin and cell-type dependent
2019 · Philip Jonsson, Michael L. Cheng, et al. · Molecular and Cellular Biology / Genetics
Abstract 1752: BRCA-mediated tumorigenesis is origin and cell-type dependent
2019 · Philip Jonsson, Michael L. Cheng, et al. · Cancer Research
Works count: 19
Citation count: 1,178
H-index: 14
I10-index: 14
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