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。Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
Daniel L. Polla et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets
Damian Szklarczyk et al.
NUCLEIC ACIDS RESEARCH (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
R. Harripaul et al.
MOLECULAR PSYCHIATRY (2018)
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Yeserin Yildirim et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
Tamar Harel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant
Nataliya Di Donato et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
A novel initiation codon mutation of PAX9 in a family with oligodontia
Jia Liang et al.
ARCHIVES OF ORAL BIOLOGY (2016)
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Karthik A. Jagadeesh et al.
NATURE GENETICS (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger et al.
PLOS ONE (2012)
Single Base-Pair Substitutions at the Translation Initiation Sites of Human Genes as a Cause of Inherited Disease
Andreas Wolf et al.
HUMAN MUTATION (2011)
Identification of evolutionarily conserved non-AUG-initiated N-terminal extensions in human coding sequences
Ivaylo P. Ivanov et al.
NUCLEIC ACIDS RESEARCH (2011)
The Vienna RNA Websuite
Andreas R. Gruber et al.
NUCLEIC ACIDS RESEARCH (2008)
Ringed sideroblasts found in a girl heterozygous for the initiation codon (ATG -> AGG) beta(0)-thalassemia mutation
In-sang Jeon et al.
HEMOGLOBIN (2007)
Apoptosis caused by p53-induced protein with death domain (PIDD) depends on the death adapter protein RAIDD
C Berube et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress
A Tinel et al.
SCIENCE (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Prediction whether a human cDNA sequence contains initiation codon by combining statistical information and similarity with protein sequences
T Nishikawa et al.
BIOINFORMATICS (2000)
分享论文
