Author

Matthew R. Herzog

Observed names: Matthew Herzog, Matthew R Herzog

Institution: University of California, Los Angeles

Observed institutions: Pacific Northwest National Laboratory, University of California, Los Angeles

ORCID: 0000-0002-9590-1682

Observed ORCID: 0000-0002-9590-1682

OpenAlex ID: A5000494600

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

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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

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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

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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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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

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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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Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

2019 · Chloe M. Reuter, Jennefer N. Kohler, et al. · Journal of Genetic Counseling · 67

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

2019 · Bobby G. Ng, Paulina Sosicka, et al. · Human Mutation · 65

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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

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

2018 · Joshi Stephen, Sateesh Maddirevula, et al. · The American Journal of Human Genetics · 29

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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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Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

2018 · Christina G. S. Palmer, Allyn McConkie‐Rosell, et al. · Journal of Genetic Counseling · 16

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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

2020 · Jeremy D. Woods, Negar Khanlou, et al. · Neuropathology · 11

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Student‐Athletes’ Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury

2016 · Laura S. Hercher, Michelle Caudle, et al. · Journal of Genetic Counseling · 11

Novel NUDT2 variant causes intellectual disability and polyneuropathy

2020 · Frank Diaz, Shaweta Khosa, et al. · Annals of Clinical and Translational Neurology · 9

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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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Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing

2018 · James M Holt, Camille L Birch, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2

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An investigation into the potential clinical use of APOE testing in the population of athletes at risk for traumatic brain injury: A survey of athletes

2015 · Diana Matviychuk, Michelle Caudle, et al.

Works count: 23

Citation count: 1,424

H-index: 16

I10-index: 19