Elliott H. Sherr

University of California, San Francisco — United States

Medicine · Health Sciences

58h-index10.7kcitations218works2.62yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Fetal and Pediatric Neurological Disorders(57), Genetics and Neurodevelopmental Disorders(54), Genomic variations and chromosomal abnormalities(49), Congenital heart defects research(33), Genomics and Rare Diseases(30)

Publications211 total

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities
Pediatric Neurology·2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Human Molecular Genetics·2026
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach
European Journal of Paediatric Neurology·2025
RBMX functional retrocopy safeguards brain development
2025Open Access
Dominant negative variants in CUL1 of the ubiquitin-proteasome cause a neurodevelopmental syndrome
2025Open Access
A clinical and genotype-phenotype analysis of MACF1 variants
The American Journal of Human Genetics·2025· 1 citedOpen Access
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics·2025· 3 citedOpen Access
Disorders of Forebrain Development
Elsevier eBooks·2025
<i>MBOAT7</i> encephalopathy: Characterizing the neurology and epileptology
Epilepsia·2025Open Access
C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis
2025· 2 citedOpen Access
Noise induces Ca2+ signaling waves and Chop/S-Xbp1 expression in the hearing cochlea
JCI Insight·2024· 4 citedOpen Access
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities
2024· 1 citedOpen Access
Modulating the unfolded protein response with ISRIB mitigates cisplatin ototoxicity
Scientific Reports·2024· 5 citedOpen Access
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release
Science Advances·2024· 2 citedOpen Access
Discovering the gene-brain-behavior link in autism via generative machine learning
Science Advances·2024· 13 citedOpen Access
Noise induces intercellular Ca <sup>2+</sup> signaling waves and the unfolded protein response in the hearing cochlea
2024· 1 citedOpen Access
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
The American Journal of Human Genetics·2024· 18 citedOpen Access
Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder
Molecular Psychiatry·2024· 3 citedOpen Access
Diverse childhood neurologic disorders and outcomes following fetal neurologic consultation
Seminars in Fetal and Neonatal Medicine·2024· 3 citedOpen Access
Intellectual Developmental Disorder and Global Developmental Delay
Elsevier eBooks·2024
page 1 of 11Next →

Frequent Co-authors

Pratik Mukherjee(13), A. James Barkovich(12), Polina Bukshpun(12), Mari Wakahiro(10), Wendy K. Chung(9), John E. Spiro(8), Srikantan S. Nagarajan(8), William B. Dobyns(6), Jeffrey Berman(6), Timothy P. L. Roberts(6), Elysa J. Marco(6), Linda J. Richards(5), Boris Keren(5), Brieana Fregeau(5), Nicholas J. Pojman(5), Julia P. Owen(5), Randy L. Buckner(5), Rita J. Jeremy(5), Sarah Spence(4), Kyle J. Steinman(4)