Rare-disease genetics in the era of next-generation sequencing: discovery to translation
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[1] Michael Brudno,et al. PhenoTips: Patient Phenotyping Software for Clinical and Research Use , 2013, Human mutation.
[2] Nicholas Katsanis,et al. Molecular genetic testing and the future of clinical genomics , 2013, Nature Reviews Genetics.
[3] Tudor Groza,et al. Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project , 2013, Human mutation.
[4] R. Reading,et al. Diagnostic exome sequencing in persons with severe intellectual disability , 2013 .
[5] J. Rilstone,et al. Brain dopamine-serotonin vesicular transport disease and its treatment. , 2013, The New England journal of medicine.
[6] D. Valle,et al. PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features , 2013, Human mutation.
[7] Christine Van Broeckhoven,et al. Genetic insights in Alzheimer's disease , 2013, The Lancet Neurology.
[8] A. V. Vulto-van Silfhout,et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. , 2012, American journal of human genetics.
[9] S. Ferdinandusse,et al. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency , 2012, Orphanet Journal of Rare Diseases.
[10] S. Scherer,et al. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype , 2012, BMC Medical Genetics.
[11] S. Mundlos,et al. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A , 2012, Journal of Medical Genetics.
[12] De Silva,et al. Sri Lankan population change and demographic bonus challenges and opportunities in the new millennium , 2012 .
[13] H. Waterham,et al. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives , 2012, Orphanet Journal of Rare Diseases.
[14] Shamil R Sunyaev,et al. Inferring causality and functional significance of human coding DNA variants. , 2012, Human molecular genetics.
[15] P. Ascierto. MEK inhibition in BRAF-mutated melanoma. , 2012, The New England journal of medicine.
[16] K. Boycott,et al. MEK inhibition in BRAF-mutated melanoma. , 2012, The New England journal of medicine.
[17] T. Ohashi. Enzyme replacement therapy for lysosomal storage diseases. , 2012, Pediatric endocrinology reviews : PER.
[18] Janel O. Johnson,et al. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. , 2012, Brain : a journal of neurology.
[19] N. Das,et al. RNAi-based therapies for Huntington's disease: delivery challenges and opportunities. , 2012, Therapeutic delivery.
[20] Bruce M. Wentworth,et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy , 2012, Nature.
[21] S. Gabriel,et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly , 2012, Nature Genetics.
[22] J. Veltman,et al. De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.
[23] E. Lander,et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. , 2012, The Journal of clinical investigation.
[24] Sean Ekins,et al. A generalizable pre-clinical research approach for orphan disease therapy , 2012, Orphanet Journal of Rare Diseases.
[25] J. Shendure,et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes , 2012, Nature Genetics.
[26] S. C. Chafe,et al. Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis , 2012, Nature.
[27] J. D. Lartigue. Tafamidis for transthyretin amyloidosis. , 2012 .
[28] E. Thorland,et al. Towards an evidence‐based process for the clinical interpretation of copy number variation , 2012, Clinical genetics.
[29] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[30] S. Levy,et al. Familial diarrhea syndrome caused by an activating GUCY2C mutation. , 2012, The New England journal of medicine.
[31] Y. S. Kim,et al. Global Prevalence of Autism and Other Pervasive Developmental Disorders , 2012, Autism research : official journal of the International Society for Autism Research.
[32] D. Labuda,et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. , 2012, American journal of human genetics.
[33] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[34] Evan T. Geller,et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.
[35] Tadashi Kaname,et al. New from NPG , 2012, Nature Medicine.
[36] Robert C. Green,et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing , 2012, Genetics in Medicine.
[37] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[38] Gabriele Gillessen-Kaesbach,et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. , 2012, American journal of human genetics.
[39] A. Thrasher,et al. Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency. , 2012, Current gene therapy.
[40] Steven J. M. Jones,et al. Mutations in EZH2 cause Weaver syndrome. , 2012, American journal of human genetics.
[41] Carol J. Bult,et al. Mouse Phenome Database (MPD) , 2011, Nucleic Acids Res..
[42] Helen Diller Family. Targeting the TGFβ signalling pathway in disease , 2012 .
[43] J. Dungan,et al. Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing , 2012 .
[44] Y. Eto,et al. Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation. , 2011, Biochemical and biophysical research communications.
[45] Matthias Griese,et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. , 2011, The New England journal of medicine.
[46] M. Leyne,et al. Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia , 2011, Pediatric Research.
[47] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[48] Kym M Boycott,et al. Mutations in NOTCH2 in families with Hajdu‐Cheney syndrome , 2011, Human mutation.
[49] Darin P Clark,et al. Whole-animal imaging, gene function, and the Zebrafish Phenome Project. , 2011, Current opinion in genetics & development.
[50] J. Shendure,et al. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data , 2011, Nature Reviews Genetics.
[51] Jamie K Teer,et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. , 2011, The New England journal of medicine.
[52] A. MacKenzie,et al. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. , 2011, The Journal of clinical investigation.
[53] S. Kingsmore,et al. Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine? , 2011, Science Translational Medicine.
[54] Muin J Khoury,et al. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time , 2011, Genetics in Medicine.
[55] S. Robertson,et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss , 2011, Nature Genetics.
[56] Pierre Lindenbaum,et al. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis , 2011, Nature Genetics.
[57] B. Neel,et al. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. , 2011, The Journal of clinical investigation.
[58] Shin'ichi Takeda,et al. [Exon-skipping therapy for Duchenne muscular dystrophy]. , 2011, Rinsho shinkeigaku = Clinical neurology.
[59] J. Goldblatt,et al. The Impact of Single Gene and Chromosomal Disorders on Hospital Admissions of Children and Adolescents: A Population-Based Study , 2010, Public Health Genomics.
[60] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[61] M. Samuels. Saturation of the Human Phenome , 2010, Current genomics.
[62] Janel O. Johnson,et al. Exome sequencing in Brown-Vialetto-van Laere syndrome. , 2010, American journal of human genetics.
[63] D. Altshuler,et al. A map of human genome variation from population-scale sequencing , 2010, Nature.
[64] Sharon R Grossman,et al. Integrating common and rare genetic variation in diverse human populations , 2010, Nature.
[65] J. Mendell,et al. Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy , 2010, Annals of neurology.
[66] Christian Gilissen,et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.
[67] P. Stenson,et al. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics , 2010, Human mutation.
[68] Y. Crow,et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. , 2010, American journal of human genetics.
[69] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[70] J. Kurtzberg,et al. Transplant outcomes in mucopolysaccharidoses. , 2010, Seminars in hematology.
[71] 鮫島 浩,et al. Population-based study からみた神経予後不良因子の検討 , 2009 .
[72] Faraz Farooq,et al. p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR. , 2009, Human molecular genetics.
[73] Satoshi Nakanishi,et al. National BioResource Project-Rat and related activities. , 2009, Experimental animals.
[74] Emily H Turner,et al. Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.
[75] P. Robinson,et al. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. , 2008, American journal of human genetics.
[76] V. McKusick. Mendelian Inheritance in Man and Its Online Version, OMIM , 2007, The American Journal of Human Genetics.
[77] I. Krantz,et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. , 2006, American journal of human genetics.
[78] Tadao Serikawa,et al. Rat Phenome Project: the untapped potential of existing rat strains. , 2005, Journal of applied physiology.
[79] S. McCandless,et al. The burden of genetic disease on inpatient care in a children's hospital. , 2004, American journal of human genetics.
[80] C. Sabatti,et al. The Human Phenome Project , 2003, Nature Genetics.
[81] H. Leonard,et al. The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.
[82] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[83] S. Aymé,et al. Information sur les maladies rares : le projet Orphanet , 1998 .
[84] S Aymé,et al. [Information on rare diseases: the Orphanet project]. , 1998, La Revue de medecine interne.
[85] M J Khoury,et al. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. , 1997, Archives of pediatrics & adolescent medicine.
[86] N. M. Lewis,et al. Accelerating research and development of innovative technologies , 1995 .
[87] H B Newcombe,et al. Genetic disorders in children and young adults: a population study. , 1988, American journal of human genetics.
[88] C. Carter. Monogenic disorders. , 1977, Journal of medical genetics.