Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-11-07
DOI
10.1002/humu.23948
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genetic compensation triggered by mutant mRNA degradation
- (2019) Mohamed A. El-Brolosy et al. NATURE
- Autosomal recessive primary microcephaly due to ASPM mutations: An update
- (2018) Pascaline Létard et al. HUMAN MUTATION
- The genetics of congenitally small brains
- (2018) Sarah Duerinckx et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Understanding mutational effects in digenic diseases
- (2017) Andrea Gazzo et al. NUCLEIC ACIDS RESEARCH
- Membrane gene ontology bias in sequencing and microarray obtained by housekeeping-gene analysis
- (2016) Yijuan Zhang et al. GENE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate
- (2016) Divya Jayaraman et al. NEURON
- Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
- (2016) Andrew T Timberlake et al. eLife
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Refining the phenotype associated with CASC5 mutation
- (2015) Abdelkrim Saadi et al. NEUROGENETICS
- DIDA: A curated and annotated digenic diseases database
- (2015) Andrea M. Gazzo et al. NUCLEIC ACIDS RESEARCH
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
- (2015) Claudia Gonzaga-Jauregui et al. Cell Reports
- Microcephaly
- (2014) C.G. Woods et al. CURRENT BIOLOGY
- A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
- (2014) S. S. Brooks et al. GENETICS
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
- (2014) Marine Barbelanne et al. Biomed Research International
- Digenic inheritance in medical genetics
- (2013) Alejandro A Schäffer JOURNAL OF MEDICAL GENETICS
- Causes and consequences of replication stress
- (2013) Michelle K. Zeman et al. NATURE CELL BIOLOGY
- Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression
- (2013) C. Novorol et al. Open Biology
- tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans
- (2013) Mariana Igoillo-Esteve et al. PLoS Genetics
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Digenic inheritance and Mendelian disease
- (2012) James R Lupski NATURE GENETICS
- Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
- (2012) Richard J L F Lemmers et al. NATURE GENETICS
- The microcephaly gene aspm is involved in brain development in zebrafish
- (2011) Hyun-Taek Kim et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Cdk5rap2 exposes the centrosomal root of microcephaly syndromes
- (2011) Timothy L. Megraw et al. TRENDS IN CELL BIOLOGY
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now