Publications
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med 22, 1768-1776 (2020).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84, 1226-39 (2014).
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7, 10713 (2016).
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7, 10713 (2016).
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol 133, 133-9 (2015).
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet 23, 5774-80 (2014).
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9, 73 (2017).
Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).
Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 100, 343-351 (2017).
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 98, 347-57 (2016).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. Hum Mol Genet 29, 1537-1546 (2020).