Publications by authors named "Keith Vaux"

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Alka Malhotra, Erin Thorpe, Alison J Coffey, Revathi Rajkumar, Josephine Adjeman, Keith Vaux

HGG Adv· July 2025

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Keith Vaux

Am J Hum Genet· July 2024

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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Danny Antaki, James Guevara, Adam X Maihofer, Marieke Klein, Madhusudan Gujral, Keith K Vaux

Nat Genet· September 2022

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Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Danny Antaki, James Guevara, Adam X Maihofer, Marieke Klein, Madhusudan Gujral, Keith K Vaux

Nat Genet· August 2022

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Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.
Yaqiong Xiao, Teresa H Wen, Lauren Kupis, Lisa T Eyler, Disha Goel, Keith Vaux

Nat Hum Behav· March 2022

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Shereen G Ghosh, Kerstin Becker, He Huang, Tracy D Salazar, Guoliang Chai, Keith K Vaux

Am J Hum Genet· December 2021

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Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
Christina D Chambers, Diana L Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Keith Vaux

PLoS One· March 2020

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Keith K Vaux

Am J Hum Genet· November 2018

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Keith K Vaux

Am J Hum Genet· September 2018

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Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.
Jenna Borok, Katherine Ferris, Keith Vaux, Andrew C Krakowski

Dermatol Surg· September 2018

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Paternally inherited cis-regulatory structural variants are associated with autism.
William M Brandler, Danny Antaki, Madhusudan Gujral, Morgan L Kleiber, Joe Whitney, Keith K Vaux

Science· April 2018

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Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
Philip A May, Christina D Chambers, Wendy O Kalberg, Jennifer Zellner, Haruna Feldman, Keith Vaux

JAMA· February 2018

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-related intellectual disability syndrome: a recognisable entity.
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Keith K Vaux

J Med Genet· September 2017

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rasim O Rosti, Esra Dikoglu, Maha S Zaki, Ghada Abdel-Salam, Nawal Makhseed, Keith K Vaux

Am J Med Genet A· April 2016

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Frequency and Complexity of De Novo Structural Mutation in Autism.
William M Brandler, Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Keith K Vaux

Am J Hum Genet· April 2016

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Alicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, Maha S Zaki, Majdi Kara, Keith K Vaux

Nat Genet· July 2015

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Keith K Vaux

Nat Genet· May 2015

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Keith K Vaux

Elife· May 2015

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The genetic landscape of autism spectrum disorders.
Rasim O Rosti, Abdelrahim A Sadek, Keith K Vaux, Joseph G Gleeson

Dev Med Child Neurol· January 2014

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Keith K Vaux

Science· January 2014

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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux

Cell· August 2013

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Evidence-based recommendations for the diagnosis and treatment of pediatric acne.
Lawrence F Eichenfield, Andrew C Krakowski, Caroline Piggott, James Del Rosso, Hilary Baldwin, Keith K Vaux

Pediatrics· May 2013

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Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification.
Lauren K Hackett, Maryam Tarsa, Tanya J Wolfson, George Kaplan, Keith K Vaux

J Ultrasound Med· February 2010

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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E Keegan, Stephen Cederbaum, Keith Vaux

Hum Genet· August 2009

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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
David Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E Keegan, Stephen Cederbaum, Keith Vaux

Hum Genet· August 2009

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