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Author Details

Keith K Vaux
university of california san diego Health Physician Network
1998
38
21
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
34980898Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD.Nat Hum Behav2022
35768728Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nat Genet2022
35654974A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nat Genet2022
34861176Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.Am J Hum Genet2021
31626646Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.PLoS One2019
29411031Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.JAMA2018
30100084Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.Am J Hum Genet2018
30141778Inside "Outside" Job: Unexpected Geometric Skin Ulcerations Overlying Orthopedic Hardware After Multimodal Laser Scar Revision.Dermatol Surg2018
30388405Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.Am J Hum Genet2018
29674594Paternally inherited cis-regulatory structural variants are associated with autism.Science2018
28735298<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity.J Med Genet2017
27001912Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Am J Med Genet A2016
27018473Frequency and Complexity of De Novo Structural Mutation in Autism.Am J Hum Genet2016
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
26005868Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Nat Genet2015
24116704The genetic landscape of autism spectrum disorders.Dev Med Child Neurol2014
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
23637225Evidence-based recommendations for the diagnosis and treatment of pediatric acne.Pediatrics2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
19642813Placenta accreta in a separate uterine horn.Pediatr Dev Pathol2010
20103789Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification.J Ultrasound Med2010
19694025Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.Hum Genet2009
19694026Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.Hum Genet2009
18446851Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.Hum Mutat2008
18925679The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.Am J Med Genet A2008
18553490Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.Birth Defects Res A Clin Mol Teratol2008
15690369Neonatal phenotype in Kabuki syndrome.Am J Med Genet A2005
15523636Developmental outcome in Kabuki syndrome.Am J Med Genet A2005
15690378Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?Am J Med Genet A2005
15255039Acardiac twin with externalized intestine adherent to placenta: unusual manifestation of omphalocele.Pediatr Dev Pathol2004
12784297Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.Am J Med Genet A2003
12962283Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway?Birth Defects Res A Clin Mol Teratol2003
14676486The safe and effective use of propofol sedation in children undergoing diagnostic and therapeutic procedures: experience in a pediatric ICU and a review of the literature.Pediatr Emerg Care2003
10734253Use of gabapentin in the treatment of childhood reflex sympathetic dystrophy.Pediatr Neurol2000
10870358The pediatric critical care experience at Naval Hospital Guam: suggestions for critical care training during residency.Mil Med2000
10091491Development of a pediatric critical care transport team: experience at a military medical center.Mil Med1999
9881987Streptococcal pyomyositis: case report and review.Pediatr Emerg Care1998
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Collaborators

University of California
Co-authored papers 13
University of Virginia
Co-authored papers 7
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 6
University of California
Co-authored papers 5
University of California
Co-authored papers 5
University of California
Co-authored papers 5
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 5
Broad Institute of MIT and Harvard
Co-authored papers 5
University of California San Diego
Co-authored papers 5
University of California
Co-authored papers 4
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 4
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 4
University of Pennsylvania
Co-authored papers 4
Department of Pediatrics/Rady Children's Hospital, University of California San Diego
Co-authored papers 4
Rady Children's Institute for Genomic Medicine
Co-authored papers 3
Institute of Neurology, University College London (UCL)
Co-authored papers 3
University of California
Co-authored papers 3
VA San Diego Healthcare System (VASDHS)
Co-authored papers 3
Wah Medical College
Co-authored papers 3
Yale School of Medicine
Co-authored papers 3
Rady Children's Hospital and The University of California
Co-authored papers 3
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
university of california san diego
Co-authored papers 3
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 2
Howard Hughes Medical Institute, University of California
Co-authored papers 2
Istanbul University
Co-authored papers 2
Cairo University
Co-authored papers 2
University of California San Diego
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Scripps Research Translational Institute
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