Publications

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2015
Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
Spier, I. et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
Roosing, S. et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
Roosing, S. et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
Roosing, S. et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
Sobreira, N., Schiettecatte, F., Valle, D. & Hamosh, A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
Karaca, E. et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron 88, 499-513 (2015).
Karaca, E. et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron 88, 499-513 (2015).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Bachmann-Gagescu, R. et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52, 514-22 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
Buske, O. J. et al. The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
Buske, O. J. et al. The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
Buske, O. J. et al. The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. Hum Mutat 36, 922-7 (2015).
Salih, M. A. et al. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor Other Hyperkinet Mov (N Y) 5, 306 (2015).
Ansar, M. et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (2015).
Gonzaga-Jauregui, C. et al. 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).
Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (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).
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).
Sobreira, N., Schiettecatte, F., Boehm, C., Valle, D. & Hamosh, A. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 36, 425-31 (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).
Wang, M. et al. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics 16, 214 (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).
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).
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).
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).
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).
Wu, N. et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372, 341-50 (2015).
Gripp, K. W. et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A, 271-81 (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).
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).
2016
Ng, B. G. et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Ng, B. G. et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
Mirzaa, G. M. et al. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
Santos-Cortez, R. Lyn P. et al. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet 98, 331-8 (2016).

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