Publications

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2015
Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).
Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).
Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Bonora, E. et al. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148, 771-782.e11 (2015).
Tanaka, A. J. et al. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet 97, 457-64 (2015).
Tanaka, A. J. et al. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet 97, 457-64 (2015).
Vivante, A. et al. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet 97, 291-301 (2015).
Çağlayan, A. Okay et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
Çağlayan, A. Okay et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
Çağlayan, A. Okay et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
Yuan, B. et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Yuan, B. et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Yuan, B. et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Yuan, B. et al. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Jurgens, J. et al. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. Hum Mutat 36, 1004-8 (2015).
Santos-Cortez, R. Lyn P. et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (2015).
Santos-Cortez, R. Lyn P. et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (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).
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).
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).
Sethi, A. et al. Reads meet rotamers: structural biology in the age of deep sequencing. Curr Opin Struct Biol 35, 125-34 (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).
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).
Scholl, H. P. N. et al. Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS One 10, e0143846 (2015).
Lee, H. et al. A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A 167A, 2470-3 (2015).
Gambin, T. et al. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med 7, 54 (2015).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).
Lim, Y. H. et al. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. J Invest Dermatol 135, 1698-1700 (2015).
Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).
Lim, Y. H., Odell, I. D., Ko, C. J. & Choate, K. A. Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy. JAMA Dermatol 151, 1240-3 (2015).
Levinsohn, J. L., Sugarman, J. L., Bilguvar, K., McNiff, J. M. & Choate, K. A. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. J Invest Dermatol 135, 2536-2538 (2015).
Stiles, A. R. et al. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab 115, 161-7 (2015).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Collison, F. T. et al. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet 36, 270-5 (2015).
Karaca, E. et al. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab 100, E140-7 (2015).
Ramasamy, R. et al. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104, 286-91 (2015).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).
Beckers, A. et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer 22, 353-67 (2015).

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