Publications
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 ;105(5):1005-1015.
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 ;105(5):1005-1015.
. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 ;88(3):499-513.
. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 ;9(1):42.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 ;134(6):671-3.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 ;59(8):367-72.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 ;41(3):641-654.
. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 ;8(1):e1023.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 ;96(4):366-370.
. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 ;168(5):830-842.e7.
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