Publications
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. J Clin Res Pediatr Endocrinol 9, 95-100 (2017).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
A novel homozygous KY variant causing a complex neurological disorder. Eur J Med Genet 63, 104031 (2020).
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A 167A, 2132-7 (2015).
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9, 73 (2017).
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol 135, 1540-1547 (2015).
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol 177, 319-322 (2017).
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum Genet 137, 753-768 (2018).
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet 104, 229-245 (2019).
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. J Hum Genet 61, 395-403 (2016).
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clin Genet 84, 394-5 (2013).
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. Am J Med Genet A 182, 1796-1800 (2020).
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
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).
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).
FARVATX: Family-Based Rare Variant Association Test for X-Linked Genes. Genet Epidemiol 40, 475-85 (2016).
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet Med 18, 788-95 (2016).
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet 107, 46-59 (2020).
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261 (2020).
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Mol Genet Genomic Med 8, e1397 (2020).
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol 79, 487-494 (2018).
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93, 204-213 (2018).
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A 176, 1015-1022 (2018).
Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. Am J Med Genet A 182, 2272-2283 (2020).
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44, 1249-54 (2012).
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25, 948-57 (2015).
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol 60, 83-7 (2016).
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med 23, 524-533 (2021).
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A 173, 2246-2250 (2017).