De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
暂无分享,去创建一个
J. Lupski | J. Posey | Z. Coban-Akdemir | T. Harel | M. Eldomery | L. Potocki | D. Doherty | Christopher M. Grochowski | J. Shieh | W. Devine | Monica Penon-Portmann | Dana Marafi | Hailey Loucks | J. Van Ziffle | Joseph T C Shieh
[1] J. Rosenfeld,et al. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. , 2021, Brain : a journal of neurology.
[2] J. Lupski,et al. A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy , 2021, American journal of medical genetics. Part A.
[3] Caitlin V. Miller,et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes , 2020, HGG advances.
[4] L. Brion,et al. Role of zinc in neonatal growth and brain growth: review and scoping review , 2020, Pediatric Research.
[5] N. Risch,et al. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy , 2019, American journal of medical genetics. Part A.
[6] I. Glass,et al. Healthcare recommendations for Joubert syndrome , 2019, American journal of medical genetics. Part A.
[7] Michael M. Khayat,et al. A Genocentric Approach to Discovery of Mendelian Disorders. , 2019, American journal of human genetics.
[8] M. Parisi. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity , 2019, Translational science of rare diseases.
[9] S. Petrovski,et al. MTR-Viewer: identifying regions within genes under purifying selection , 2019, Nucleic Acids Res..
[10] M. Daly,et al. Identification of pathogenic variant enriched regions across genes and gene families , 2019, bioRxiv.
[11] Beryl B. Cummings,et al. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes , 2019, bioRxiv.
[12] Michael F. Wangler,et al. Lessons learned from additional research analyses of unsolved clinical exome cases , 2017, Genome Medicine.
[13] Colin A. Johnson,et al. Characterizing the morbid genome of ciliopathies , 2016, Genome Biology.
[14] S. Nelson,et al. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation , 2016, npj Genomic Medicine.
[15] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[16] J. Shendure,et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity , 2015, Journal of Medical Genetics.
[17] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[18] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[19] E. Valente,et al. Joubert syndrome: congenital cerebellar ataxia with the molar tooth , 2013, The Lancet Neurology.
[20] Liping Huang,et al. The SLC30 family of zinc transporters - a review of current understanding of their biological and pathophysiological roles. , 2013, Molecular aspects of medicine.
[21] Liping Huang,et al. Golgi apparatus localization of ZNT7 in the mouse cerebellum. , 2009, Histology and histopathology.
[22] W. Skarnes,et al. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. , 2006, Genes & development.
[23] Liping Huang,et al. ZnT7, a Novel Mammalian Zinc Transporter, Accumulates Zinc in the Golgi Apparatus* , 2003, The Journal of Biological Chemistry.