Publications
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 101, 789-802 (2017).
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet 137, 471-478 (2018).
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48, 1071-6 (2016).
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol 56, 1406-1413 (2017).
Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
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).
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 61, 1056-63 (2014).
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A 113, 11289-11293 (2016).
Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 63, 1977-86 (2016).
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A 170, 3165-3171 (2016).