Publications
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A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion 34, 84-90 (2017).
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet 23, 3289-98 (2014).
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Dev Cell 45, 226-244.e8 (2018).
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genet Epidemiol 40, 470-4 (2016).
Association of De Novo Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy. Neurology 96, e1783-e1791 (2021).
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. Am J Med Genet A 176, 2887-2891 (2018).
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96, 841-9 (2015).
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet 98, 331-8 (2016).
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet 103, 968-975 (2018).
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96, 462-73 (2015).
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep 6, 34232 (2016).
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep 44, 85-92 (2019).
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A 173, 2906-2911 (2017).
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat 39, 255-265 (2018).
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet 95, 235-40 (2014).
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Birth Defects Res 111, 1618-1632 (2019).
Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis (2021). doi:10.1002/jimd.12367
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res 34, 375-386 (2019).
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102, 309-320 (2018).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62194
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18, 788-95 (2016).
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med 21, 1611-1620 (2019).
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet 104, 35-44 (2019).
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40, 53-72 (2019).
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 90, 925-33 (2012).
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. Pediatr Rheumatol Online J 18, 80 (2020).
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52, 676-80 (2015).
Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet 25, 1155-1161 (2017).