相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Understanding mutational effects in digenic diseases
Andrea Gazzo et al.
NUCLEIC ACIDS RESEARCH (2017)
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins
Fernanda S. Jehee et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Genetic studies in intellectual disability and related disorders
Lisenka E. L. M. Vissers et al.
NATURE REVIEWS GENETICS (2016)
DIDA: A curated and annotated digenic diseases database
Andrea M. Gazzo et al.
NUCLEIC ACIDS RESEARCH (2016)
Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects
Daniele Raimondi et al.
BIOINFORMATICS (2016)
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing
C. Mouden et al.
CLINICAL GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
Rong Chen et al.
NATURE BIOTECHNOLOGY (2016)
The continuum of causality in human genetic disorders
Nicholas Katsanis
GENOME BIOLOGY (2016)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production
Anja Brehm et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli et al.
JOURNAL OF MEDICAL GENETICS (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
A novel ensemble method for classifying imbalanced data
Zhongbin Sun et al.
PATTERN RECOGNITION (2015)
The human gene damage index as a gene-level approach to prioritizing exome variants
Yuval Itan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing
Aaron Chapla et al.
CLINICAL ENDOCRINOLOGY (2015)
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
Kejian Zhang et al.
BLOOD (2014)
Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?
Martina Girardelli et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
A. S. Cristino et al.
MOLECULAR PSYCHIATRY (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Update on the Genetics of Bardet-Biedl Syndrome
O. M'hamdi et al.
MOLECULAR SYNDROMOLOGY (2014)
Digenic inheritance in medical genetics
Alejandro A. Schaeffer
JOURNAL OF MEDICAL GENETICS (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population
Huiying He et al.
PLOS ONE (2013)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Clan Genomics and the Complex Architecture of Human Disease
James R. Lupski et al.
CELL (2011)
Expanding the Phenotype and Genotype of Female GnRH Deficiency
Natalie D. Shaw et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes
Zoran Gucev et al.
JOURNAL OF GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Gene-Disease Network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental Diseases
Anna Bauer-Mehren et al.
PLOS ONE (2011)
Whole-Genome Sequencing for Optimized Patient Management
Matthew N. Bainbridge et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Modifier genes in Mendelian disorders: the example of cystic fibrosis
Garry R. Cutting
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
NWChem: A comprehensive and scalable open-source solution for large scale molecular simulations
M. Valiev et al.
COMPUTER PHYSICS COMMUNICATIONS (2010)
Massively parallel sequencing and rare disease
Sarah B. Ng et al.
HUMAN MOLECULAR GENETICS (2010)
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
Frauke Coppieters et al.
HUMAN MUTATION (2010)
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
Julie Sarfati et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Genetic Analysis in Patients With Kallmann Syndrome: Coexistence of Mutations in Prokineticin Receptor 2 and KAL1
P. Canto et al.
JOURNAL OF ANDROLOGY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
The human disease network
Kwang-Il Goh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Kallmann syndrome:: Mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
Catherine Dode et al.
PLOS GENETICS (2006)
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder
AS Brooks et al.
CLINICAL GENETICS (2005)
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
M Font-Llitjos et al.
JOURNAL OF MEDICAL GENETICS (2005)
The oligogenic properties of Bardet-Biedl syndrome
N Katsanis
HUMAN MOLECULAR GENETICS (2004)
Insulin promoter factor-1 mutations and diabetes in Trinidad: Identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family
BN Cockburn et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Mechanisms of non-Mendelian inheritance in genetic disease
V van Heyningen et al.
HUMAN MOLECULAR GENETICS (2004)
Beyond Mendel: An evolving view of human genetic disease transmission
JL Badano et al.
NATURE REVIEWS GENETICS (2002)
Gene selection for cancer classification using support vector machines
I Guyon et al.
MACHINE LEARNING (2002)
Modifier genes of hereditary hearing loss
T Friedman et al.
CURRENT OPINION IN NEUROBIOLOGY (2000)
分享论文
