Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. Am J Hum Genet 106, 779-792 (2020).
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest 130, 4411-4422 (2020).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genet Med 22, 427-431 (2020).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).
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).
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376, 742-754 (2017).
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet 100, 21-30 (2017).
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol 56, 1406-1413 (2017).
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. J Med Genet 54, 54-62 (2017).
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat 37, 804-11 (2016).
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet 134, 671-3 (2015).
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet 95, 721-8 (2014).
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157, 651-63 (2014).