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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8, 16077 (2017).
Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell 165, 566-79 (2016).
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Hum Mol Genet 25, 348-57 (2016).
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat 37, 160-4 (2016).
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 53, 608-15 (2016).
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet 23, 342-6 (2015).
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet 97, 457-64 (2015).
DIAMUND: direct comparison of genomes to detect mutations. Hum Mutat 35, 283-8 (2014).
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 23, 2888-900 (2014).
Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 46, 326-8 (2014).
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51, 197-202 (2014).
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45, 1050-4 (2013).