Publications
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Filters: Author is Gibbs, Richard A and Keyword is Young Adult [Clear All Filters]
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 ;8(10):2052-2058.
. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 ;108(10):1981-2005.
. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 ;185(8):2532-2540.
. Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 ;4(9).
. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 ;11(1):5903.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 ;11(1):12.
. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 ;105(1):132-150.
. . The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 ;141(9):2576-2591.
. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.
. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.
. . Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 ;73(7):836-845.
. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 ;26(9):1170-7.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
. . Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS One. 2014 ;9(8):e104452.
. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
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