Keith K. Vaux

Medical Genetics | Pediatrics

617 Broadway Unit 120
Sonoma, CA 95476

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Journal: American journal of human genetics

Published: November 27, 2023

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

Journal: Nature genetics

Published: June 29, 2022

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Journal: American journal of human genetics

Published: December 03, 2021

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

Journal: Nature genetics

Published: February 25, 2021

Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.

Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.

Journal: Nature human behaviour

Published: October 21, 2020

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.

Journal: PloS one

Published: May 23, 2019

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Journal: American journal of human genetics

Published: November 03, 2018

Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.

Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.

Journal: Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]

Published: August 25, 2018

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Journal: American journal of human genetics

Published: April 16, 2018

Paternally inherited cis-regulatory structural variants are associated with autism.

Paternally inherited cis-regulatory structural variants are associated with autism.

Journal: Science (New York, N.Y.)

Published: March 14, 2017

FOXP1-related intellectual disability syndrome: a recognisable entity.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Journal: Journal of medical genetics

Published: January 31, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026