Publications

Export 127 results:
Author Title [ Year(Desc)]
Filters: Keyword is Animals  [Clear All Filters]
2012
van der Maarel, S. M., Miller, D. G., Tawil, R., Filippova, G. N. & Tapscott, S. J. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol 25, 614-20 (2012).
Lindsay, M. E. et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 44, 922-7 (2012).
Doyle, A. J. et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44, 1249-54 (2012).
2013
Ashraf, S. et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 123, 5179-89 (2013).
Hjeij, R. et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Santos-Cortez, R. Lyn P. et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
2014
Santos-Cortez, R. Lyn P. et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet 23, 3289-98 (2014).
Schaffer, A. E. et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157, 651-63 (2014).
Carvalho, C. M. B. et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet 95, 565-78 (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).
Novarino, G. et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343, 506-511 (2014).
Karaca, E. et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157, 636-50 (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).
Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).
Mishra-Gorur, K. et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84, 1226-39 (2014).
Lalani, S. R. et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
Sambrotta, M. et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 46, 326-8 (2014).
2015
Seco, C. Zazo et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet 97, 647-60 (2015).
Akizu, N. et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
Bosch, D. G. M. et al. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 23, 1689-93 (2015).
Chen, L. et al. CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet 24, 1574-83 (2015).
Yuan, B. et al. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet 11, e1005686 (2015).
Gonzaga-Jauregui, C. et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep 12, 1169-83 (2015).
Fairfield, H. et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res 25, 948-57 (2015).
Guemez-Gamboa, A. et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet 47, 809-13 (2015).
Ansar, M. et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet 134, 941-50 (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).
Zhang, F. & Lupski, J. R. Non-coding genetic variants in human disease. Hum Mol Genet 24, R102-10 (2015).
Santos-Cortez, R. Lyn P. et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet 47, 917-20 (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).
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).
Lupski, J. R. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen 56, 419-36 (2015).
2016
Romere, C. et al. Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell 165, 566-79 (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).
Vetrini, F. et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet 99, 886-893 (2016).
Toriyama, M. et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48, 648-56 (2016).
Lindstrand, A. et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99, 318-36 (2016).
Priest, J. R. et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet 12, e1005963 (2016).
Kim, J. - H. et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet 99, 711-719 (2016).
Wallace, S. et al. Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clin Genet 90, 351-60 (2016).
Gee, H. Yung et al. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun 7, 10822 (2016).
Kuang, S. - Q. et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest 126, 948-61 (2016).
Loviglio, M. Nicla et al. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med 8, 105 (2016).
Clarke, D. et al. Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation. Structure 24, 826-837 (2016).
Tărlungeanu, D. C. et al. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 167, 1481-1494.e18 (2016).
Lee, M. et al. Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. Hum Mol Genet 25, 1923-1933 (2016).
Rehman, A. U. et al. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat 37, 991-1003 (2016).

Pages