Publications
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62198
Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney Int 99, 1102-1117 (2021).
SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4. J Exp Med 218, (2021).
SARS-CoV-2 induces human plasmacytoid pre-dendritic cell diversification via UNC93B and IRAK4. bioRxiv (2021). doi:10.1101/2020.07.10.197343
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. J Exp Med 218, (2021).
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. J Exp Med 218, (2021).
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. J Exp Med 218, (2021).
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?. J Exp Med 218, (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. Nat Commun 11, 1523 (2020).
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 11, 2254 (2020).
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. JAMA Netw Open 3, e203959 (2020).
Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol 319, F988-F999 (2020).
