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。Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis
Lara Slavec et al.
SCIENTIFIC REPORTS (2022)
GENCODE 2021
Adam Frankish et al.
NUCLEIC ACIDS RESEARCH (2021)
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population
Masayasu Shibano et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2020)
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Daniela del Gaudio et al.
GENETICS IN MEDICINE (2020)
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?
Teresa Amaral et al.
CANCERS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate
M. A. Eshete et al.
JOURNAL OF DENTAL RESEARCH (2018)
Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation
Shashikant Pujar et al.
NUCLEIC ACIDS RESEARCH (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
Liza L. Cox et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Mirta Basha et al.
JOURNAL OF MEDICAL GENETICS (2018)
Unmasking familial CPX by WES and identification of novel clinical signs
Benedicte Demeer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing
A. K. Hoebel et al.
JOURNAL OF DENTAL RESEARCH (2017)
Exome Sequencing Provides Additional Evidence for the Involvement of ARHGAP29 in Mendelian Orofacial Clefting and Extends the Phenotypic Spectrum to Isolated Cleft Palate
Huan Liu et al.
BIRTH DEFECTS RESEARCH (2017)
Variant Review with the Integrative Genomics Viewer
James T. Robinson et al.
CANCER RESEARCH (2017)
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families
E. J. Leslie et al.
CLINICAL GENETICS (2016)
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
Nuala A. O'Leary et al.
NUCLEIC ACIDS RESEARCH (2016)
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
Elisabeth Mangold et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population
Hsiu-Huei Peng et al.
BMC MEDICAL GENETICS (2016)
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
Reuben J. Pengelly et al.
SCIENTIFIC REPORTS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions
Mei Qi Kwa et al.
CELLULAR SIGNALLING (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
Myriam Peyrard-Janvid et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
ABRA: improved coding indel detection via assembly-based realignment
Lisle E. Mose et al.
BIOINFORMATICS (2014)
Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads
Hongshan Jiang et al.
BMC BIOINFORMATICS (2014)
Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts
Alexandre Bureau et al.
GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian et al.
NUCLEIC ACIDS RESEARCH (2014)
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Hashem A. Shihab et al.
HUMAN GENOMICS (2014)
Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
Jian Ye et al.
BMC BIOINFORMATICS (2012)
Genetics of Nonsyndromic Orofacial Clefts
Fedik Rahimov et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
Primer3-new capabilities and interfaces
Andreas Untergasser et al.
NUCLEIC ACIDS RESEARCH (2012)
Associated Anomalies Among Infants With Oral Clefts at Birth and During a 1-year Follow-Up
Monica Rittler et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Risk of Oral Clefts in Twins
Dorthe Grosen et al.
EPIDEMIOLOGY (2011)
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan
S. Malik et al.
CLINICAL GENETICS (2010)
A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance
Dorthe Grosen et al.
JOURNAL OF MEDICAL GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L. Desmyter et al.
MOLECULAR SYNDROMOLOGY (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Father-to-Son Transmission of an X-linked Gene: A Case of Paternal Sex Chromosome Heterodisomy
R. A. Ferrier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Renata. L. L. Ferreira de Lima et al.
GENETICS IN MEDICINE (2009)
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes
Erwin Pauws et al.
HUMAN MOLECULAR GENETICS (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Syndromes and anomalies associated with cleft
R. Venkatesh
INDIAN JOURNAL OF PLASTIC SURGERY (2009)
Defining subphenotypes for oral clefts based on dental development
A. Letra et al.
JOURNAL OF DENTAL RESEARCH (2007)
TBX22 missense mutations found in patients with x-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression
Artemisia M. Andreou et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Determinants of protein function revealed by combinatorial entropy optimization
Boris Reva et al.
GENOME BIOLOGY (2007)
Novel IRF6 mutations in Chinese patients with Van der Woude syndrome
X. Du et al.
JOURNAL OF DENTAL RESEARCH (2006)
A method for accurate detection of genomic microdeletions using real-time quantitative PCR
R Weksberg et al.
BMC GENOMICS (2005)
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome
M Peyrard-Janvid et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
TM Zucchero et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
TBX22 mutations are a frequent cause of cleft palate
ACB Marcano et al.
JOURNAL OF MEDICAL GENETICS (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
S Kayano et al.
JOURNAL OF HUMAN GENETICS (2003)
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
S Kondo et al.
NATURE GENETICS (2002)
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
C Braybrook et al.
NATURE GENETICS (2001)
On the allelic spectrum of human disease
DE Reich et al.
TRENDS IN GENETICS (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
分享论文
