Publications

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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).
2014
Boone, P. M. et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet 95, 143-61 (2014).
Yu, J. - H., Harrell, T. M., Jamal, S. M., Tabor, H. K. & Bamshad, M. J. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet 95, 77-84 (2014).
Çağlayan, A. Okay et al. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol 51, 806-813.e8 (2014).
Prada, C. E. et al. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
Xia, F. et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet 94, 784-9 (2014).
Xia, F. et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet 94, 784-9 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Yamamoto, S. et al. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Smith, J. D. et al. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet 95, 235-40 (2014).
Smith, J. D. et al. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. Am J Hum Genet 95, 235-40 (2014).
Novarino, G. et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
Novarino, G. et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
Novarino, G. et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
Keramati, A. R. et al. A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med 370, 1909-1919 (2014).
Keramati, A. R. et al. A form of the metabolic syndrome associated with mutations in DYRK1B. N Engl J Med 370, 1909-1919 (2014).
Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).
Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).
de Kock, L. et al. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128, 583-95 (2014).
de Kock, L. et al. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128, 583-95 (2014).
Trivellin, G. et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371, 2363-74 (2014).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (2014).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (2014).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (2014).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (2014).
Glessner, J. T. et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 115, 884-896 (2014).
Glessner, J. T. et al. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 115, 884-896 (2014).
Shapiro, A. J. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 146, 1176-1186 (2014).
Kaiser, F. J. et al. 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).
Kaiser, F. J. et al. 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).
Kaiser, F. J. et al. 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).
Kaiser, F. J. et al. 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).
Kaiser, F. J. et al. 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).
Kaiser, F. J. et al. 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).
Shalev, S. A. et al. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes 15, 252-6 (2014).
Shalev, S. A. et al. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes 15, 252-6 (2014).
Shalev, S. A. et al. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes 15, 252-6 (2014).
Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
Rainger, J. et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).
Rainger, J. et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).
Rainger, J. et al. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94, 915-23 (2014).
Romberg, N. et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46, 1135-1139 (2014).
Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

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