Publications

Export 964 results:
Author Title [ Year(Asc)]
2018
M Poli, C. et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet 102, 1126-1142 (2018).
Marin-Valencia, I. et al. A homozygous founder mutation in associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet 55, 48-54 (2018).
Khan, S. et al. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. Br J Dermatol 178, 556-558 (2018).
van der Ven, A. T. et al. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One 13, e0191224 (2018).
Punetha, J. et al. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab 125, 302-304 (2018).
Du, R. et al. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet 137, 689-703 (2018).
Coban-Akdemir, Z. et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet 103, 171-187 (2018).
Loh, P. - R. et al. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature 559, 350-355 (2018).
Guemez-Gamboa, A. et al. Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol 84, 638-647 (2018).
Shashi, V. et al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J 37, (2018).
Guo, D. - C. et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet 102, 706-712 (2018).
Dobyns, W. B. et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).
Grochowski, C. M. et al. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat 39, 939-946 (2018).
Arachchi, H. et al. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
Keller, R. B. et al. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20, 411-419 (2018).
Le Gall, E. Cornec- et al. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet 102, 832-844 (2018).
Cowan, J. R. et al. Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees. Circ Genom Precis Med 11, e002038 (2018).
Li, L. et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Breuss, M. W. et al. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet 103, 296-304 (2018).
Braun, D. A. et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Ruiz-García, R. et al. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol 142, 605-617.e7 (2018).
Cox, L. L. et al. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet 102, 1143-1157 (2018).
Halevy, R. Sukenik et al. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat 39, 811-815 (2018).
Chen, A. et al. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27, 1913-1926 (2018).
Braun, D. A. et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176, 2460-2465 (2018).
Sandaradura, S. A. et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat 39, 383-388 (2018).
Besse, W. et al. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Hum Mutat 39, 378-382 (2018).
Santos-Cortez, R. Lyn P. et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet 137, 735-752 (2018).
Schrauwen, I. et al. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19, 122 (2018).
Ullah, A. et al. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. Ann Hum Genet 82, 129-134 (2018).
Støve, S. Isungset et al. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet 26, 1294-1305 (2018).
Lu, J. G. et al. A novel pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4, (2018).
Hartono, S. P. et al. Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol 38, 753-756 (2018).
Sisk, R. A. et al. Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. J Ophthalmol 2018, 2984934 (2018).
Wang, K. et al. Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet 55, 675-684 (2018).
Karaca, E. et al. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med 20, 1528-1537 (2018).
Wang, X. et al. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).
Jiang, Y. et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).
Vasilevsky, N. A. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474-476 (2018).
Song, X. et al. Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res 28, 1228-1242 (2018).
Maselli, R. A. et al. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci 1413, 119-125 (2018).
Callaway, D. A. et al. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet 7, 164-173 (2018).
Konno, H. et al. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep 23, 1112-1123 (2018).
Aldinger, K. A. et al. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 178, 432-439 (2018).
Jordan, V. K. et al. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet 27, 2064-2075 (2018).
Kumar, R. et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat 39, 1126-1138 (2018).
Winawer, M. R. et al. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83, 1133-1146 (2018).
Dashnow, H. et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Baker, K. et al. SYT1-associated neurodevelopmental disorder: a case series. Brain 141, 2576-2591 (2018).
Cheng, H. et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).

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