Publications

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Dinckan, N. et al. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res 97, 49-59 (2018).
Farlow, J. L. et al. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol 73, 68-75 (2016).
Bekheirnia, M. Reza et al. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med 19, 412-420 (2017).
Gonzaga-Jauregui, C. et al. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr 59, 17-21 (2014).
Below, J. E. et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet 92, 137-43 (2013).
Somineni, H. K. et al. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Nilsson, D. et al. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat 38, 180-192 (2017).
White, J. J. et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
Coban-Akdemir, Z. H. et al. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A 182, 1387-1399 (2020).
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Agopian, A. J. et al. X-chromosome association studies of congenital heart defects. Am J Med Genet A 182, 250-254 (2020).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Hijazi, H. et al. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
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Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
Γ
Chen, S., Mattei, P., You, J., Sobreira, N. L. & Hinds, G. A. γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa. JAMA Dermatol 151, 668-70 (2015).

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