Publications
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 167, 1481-1494.e18 (2016).
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci U S A 114, E7341-E7347 (2017).
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48, 648-56 (2016).
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol 25, 614-20 (2012).
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One 13, e0191224 (2018).
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet 99, 886-893 (2016).
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 63, 1977-86 (2016).
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol 28, 2364-2376 (2017).
Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clin Genet 90, 351-60 (2016).
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet 49, 613-617 (2017).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108, 357-367 (2021).
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 5, (2020).
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. Am J Hum Genet 104, 246-259 (2019).
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain 143, 1114-1126 (2020).
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet 26, 2207-2217 (2017).
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