Laurence E. Walsh

Biochemistry, Genetics and Molecular Biology · Indiana University

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Neurofibromatosis and Schwannoma Cases Genomic variations and chromosomal abnormalities Congenital heart defects research

Publications

Citations

2,039

Est. group size

—

Recurring co-author estimate

Active years

Publishing since 1993

Research summary

AI-generated

Laurence E. Walsh studies the genetic causes of neurodevelopmental and rare disorders, working to connect specific gene mutations to the clinical symptoms patients experience. Much of the research involves identifying new disease-causing variants in genes and describing the range of conditions they produce, including autism, intellectual disability, epilepsy, and developmental malformations. The work often takes the form of detailed clinical case studies alongside molecular genetics.

Neurodevelopmental disorder geneticsRare disease gene discoveryGenotype–phenotype correlationNeurofibromatosis (NF1) geneticsClinical case reports

Publication activity was highest around 2018–2021 (roughly 5–6 papers per year) and has slowed somewhat in recent years, averaging about 2–3 per year.

Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026

Publication cadence

Publications per year over the last 10 years — averaging 2.4/year recently

Recent publications

Recurrent Autoimmune Encephalitis in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Case Reports in Critical Care · 2026
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
UNC Libraries · 2025
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
2025
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
npj Genomic Medicine · 2024
Primary Erythromelalgia Treated With 10% Capsaicin Cream: A Case Report and a 10-Year Follow-Up
Cureus · 2022
Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome
bioRxiv (Cold Spring Harbor Laboratory) · 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genetics in Medicine · 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Genetics in Medicine · 2021
Expanding the spectrum of CEP55‐associated disease to viable phenotypes
American Journal of Medical Genetics Part A · 2020
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements
Journal of Child Neurology · 2020
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
medRxiv · 2020
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
The American Journal of Human Genetics · 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Brain · 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Brain · 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Genetics in Medicine · 2019

Publishes in

Genetics in Medicine×5
The American Journal of Human Genetics×4
Radiology Case Reports×3
Brain×2
npj Parkinson s Disease×2

This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.

Last updated Jul 11, 2026.

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