Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A 185, 119-133 (2021).
Association of De Novo Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy. Neurology 96, e1783-e1791 (2021).
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis (2021). doi:10.1002/jimd.12367
Germline SAMD9L truncation variants trigger global translational repression. J Exp Med 218, (2021).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Gain-of-Function Variants in Dilated Cardiomyopathy. Circ Genom Precis Med 13, e002892 (2020).
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. Pediatr Rheumatol Online J 18, 80 (2020).
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020).
Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet 107, 1029-1043 (2020).
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. J Inherit Metab Dis 43, 1037-1045 (2020).
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med 12, e11739 (2020).
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet 107, 293-310 (2020).
Otitis media susceptibility and shifts in the head and neck microbiome due to variants. J Med Genet (2020). doi:10.1136/jmedgenet-2020-106844
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genet Med 22, 427-431 (2020).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep 44, 85-92 (2019).
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).
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum Genet 138, 257-269 (2019).
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).
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).
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet 64, 153-160 (2019).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Mendelian Gene Discovery: Fast and Furious with No End in Sight. Am J Hum Genet 105, 448-455 (2019).
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).
Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. Eur J Hum Genet 27, 1054-1060 (2019).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
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).
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. Am J Med Genet A 176, 2887-2891 (2018).
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet 103, 968-975 (2018).
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat 39, 255-265 (2018).
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102, 309-320 (2018).
FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103, 679-690 (2018).
Genetic counselors on the frontline of precision health. Am J Med Genet C Semin Med Genet 178, 5-9 (2018).
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20, 411-419 (2018).