Publications

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2021
Wenric, S. et al. Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry. Pharmacogenomics J 21, 174-189 (2021).
Ghosh, S. G. et al. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279 (2021).
Alkaya, D. Uludağ, Akpınar, E., Bilguvar, K. & Tuysuz, B. Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62198
Li, Q. et al. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney Int 99, 1102-1117 (2021).
2020
Shen, F. & Kidd, J. M. Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Musfee, F. I. et al. Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Mol Genet Genomic Med 8, e1406 (2020).
Batzir, N. Assia et al. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat 41, 641-654 (2020).
Gunning, A. C. et al. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet 106, 272-279 (2020).
Ghosh, S. Georges et al. Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet 57, 274-282 (2020).
Whitman, M. C. et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Invest Ophthalmol Vis Sci 61, 22 (2020).
Bryen, S. J. et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).
Coulter, M. E. et al. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med 22, 1040-1050 (2020).
Yaramis, A. et al. -related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Orange, D. E. et al. RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
2019
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Riley, L. G. et al. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
Estañ, M. Cristina et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
Bolduc, V. et al. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight 4, (2019).
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet 27, 1649-1658 (2019).
Gould, R. A. et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet 51, 42-50 (2019).
2018
Aldinger, K. A. et al. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 178, 432-439 (2018).
Jordan, V. K. et al. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 27, 2064-2075 (2018).
2017
Kropski, J. A. et al. Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families. Am J Respir Crit Care Med 196, 1481-1484 (2017).
Schoch, K. et al. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 100, 343-351 (2017).
Posey, J. E. et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Bayram, Y. et al. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
2016
Yu, H. et al. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol 138, 1142-1151.e2 (2016).
Chong, J. X. et al. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet 98, 772-81 (2016).
Harel, T. et al. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
Lalani, S. R. et al. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet 98, 347-57 (2016).
Vilarinho, S. et al. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 63, 1977-86 (2016).
Pehlivan, D. et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
2015
Santos-Cortez, R. Lyn P. et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (2015).
Cogan, J. D. et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 191, 646-55 (2015).
Karaca, E. et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A 167A, 2795-9 (2015).
Sethi, A. et al. Reads meet rotamers: structural biology in the age of deep sequencing. Curr Opin Struct Biol 35, 125-34 (2015).
Scholl, U. I. et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife 4, e06315 (2015).
Vieira, A. R. et al. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral Surg Oral Med Oral Pathol Oral Radiol 120, e235-9 (2015).
2014
He, Z. et al. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94, 33-46 (2014).
Goh, G. et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet 46, 613-7 (2014).
Cecchi, A. C. et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke 45, 3200-7 (2014).
2013
Bilguvar, K. et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).
Lemaire, M. et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45, 531-6 (2013).
Guo, D. - C. et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 93, 398-404 (2013).
Cheung, Y. Him et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 92, 996-1000 (2013).
Carvalho, C. M. B. et al. Replicative mechanisms for CNV formation are error prone. Nat Genet 45, 1319-26 (2013).
Green, R. C., Lupski, J. R. & Biesecker, L. G. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA 310, 365-6 (2013).