Mendelian Gene Discovery: Fast and Furious with No End in Sight.
暂无分享,去创建一个
Michael J Bamshad | Deborah A Nickerson | Jessica X Chong | D. Nickerson | M. Bamshad | J. Chong | Jessica X. Chong
[1] K. Boycott,et al. The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM® , 2018, American journal of medical genetics. Part C, Seminars in medical genetics.
[2] Orion J. Buske,et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.
[3] Brent S. Pedersen,et al. A map of constrained coding regions in the human genome , 2017, Nature Genetics.
[4] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[5] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[6] Stylianos E. Antonarakis,et al. Mendelian disorders deserve more attention , 2006, Nature Reviews Genetics.
[7] Justyna A. Karolak,et al. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. , 2019, American journal of human genetics.
[8] Emily H Turner,et al. Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.
[9] Francis S. Collins,et al. Positional cloning moves from perditional to traditional , 1995, Nature Genetics.
[10] Matthew Might,et al. Participant‐Driven Matchmaking in the Genomic Era , 2015, Human mutation.
[11] Caroline F. Wright,et al. De novo mutations in regulatory elements in neurodevelopmental disorders , 2018, Nature.
[12] Matthias Griese,et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. , 2011, The New England journal of medicine.
[13] E. Eichler,et al. The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders , 2019, Trends in Neurosciences.
[14] Martin Kircher,et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. , 2019, American journal of human genetics.
[15] Matthew Might,et al. The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated , 2014, Genetics in Medicine.
[16] P. Robinson,et al. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. , 2012, American journal of human genetics.
[17] M. Waldenberger,et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. , 2014, American journal of human genetics.
[18] Ana Cvejic,et al. Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR , 2012, Nature Genetics.
[19] Judith A. Blake,et al. Mouse Genome Database (MGD) 2019 , 2018, Nucleic Acids Res..
[20] J. Lupski,et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. , 2015, The New England journal of medicine.
[21] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[22] Giorgio Valentini,et al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. , 2016, American journal of human genetics.
[23] John P. Rice,et al. Identification of common genetic risk variants for autism spectrum disorder , 2019, Nature Genetics.
[24] S. Zuchner,et al. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3 , 2016, PLoS genetics.
[25] Julien Gagneur,et al. OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. , 2018, American journal of human genetics.
[26] M. Gerstein,et al. Insights into genetics, human biology and disease gleaned from family based genomic studies , 2019, Genetics in Medicine.
[27] S. Hilsenbeck,et al. Pediatric Data Sharing in Genomic Research: Attitudes and Preferences of Parents , 2014, Pediatrics.
[28] Yufeng Shen,et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands , 2017, Nature Genetics.
[29] Emily H Turner,et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.
[30] Tomasz Stokowy,et al. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. , 2017, American journal of human genetics.
[31] Jeffrey Braithwaite,et al. Integrating Genomics into Healthcare: A Global Responsibility. , 2019, American journal of human genetics.
[32] Karynne E. Patterson,et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. , 2015, American journal of human genetics.
[33] Jay Shendure,et al. A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function. , 2018, American journal of human genetics.
[34] Ivan K. Chinn,et al. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. , 2018, American journal of human genetics.