Publications
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 ;99(4):886-893.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;101(5):716-724.
. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-14.
. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 ;12(7):1169-83.
. 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.
. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 ;88(3):499-513.
. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 ;125(3):302-304.
. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 ;8(1):105.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):4625.
. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. . Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. 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.
. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 ;106(2):272-279.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 ;18(5):443-51.
. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 ;182(5):1143-1151.
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