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2014
Knowles, M. R. et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 189, 707-17 (2014).
Knowles, M. R. et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 189, 707-17 (2014).
Rehman, A. U. et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94, 144-52 (2014).
Concepcion, J. P. et al. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 15, 67-72 (2014).
Minillo, R. Moldenhaue et al. Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. Mol Syndromol 5, 268-75 (2014).
Bosch, D. G. M. et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).
Bosch, D. G. M. et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 94, 303-9 (2014).
Westland, R. et al. Phenotypic expansion of DGKE-associated diseases. J Am Soc Nephrol 25, 1408-14 (2014).
Goh, G. et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet 46, 613-7 (2014).
Migliavacca, M. P. et al. Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. Am J Med Genet A 164A, 1170-4 (2014).
Jamuar, S. S. et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 733-43 (2014).
Jamuar, S. S. et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 733-43 (2014).
Makaryan, V. et al. TCIRG1-associated congenital neutropenia. Hum Mutat 35, 824-7 (2014).
Bayer, D. K. et al. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol 178, 459-69 (2014).
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).
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).
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).
Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).
Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Radmanesh, F. et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92, 468-74 (2013).
Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605-13 (2013).
Jenkinson, E. M. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92, 605-13 (2013).
Jamal, S. M. et al. Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A 161A, 935-50 (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).
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).
Scholl, U. I. et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45, 1050-4 (2013).
Wiszniewski, W. et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
Wiszniewski, W. et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 93, 197-210 (2013).
2012
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (2012).
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (2012).
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (2012).
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (2012).
Lemmers, R. J. L. F. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44, 1370-4 (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).
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).
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).
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).
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).
Mechanic, L. E. et al. Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol 36, 22-35 (2012).
2011
DE LA Vega, F. M., Bustamante, C. D. & Leal, S. M. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. Pac Symp Biocomput 74-5 (2011).

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