Volume 28, Issue 8
15 April 2019
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Cover image
ISSN 0964-6906
EISSN 1460-2083
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Volume 28, Issue 8, 15 April 2019
General Articles
TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1227–1243, https://doi.org/10.1093/hmg/ddy416
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1244–1259, https://doi.org/10.1093/hmg/ddy405
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1260–1273, https://doi.org/10.1093/hmg/ddy420
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1274–1285, https://doi.org/10.1093/hmg/ddy427
FOXF2 is required for cochlear development in humans and mice
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1286–1297, https://doi.org/10.1093/hmg/ddy431
Tags:
genes, mice, cochlea, congenital abnormality, auditory hair cell
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1298–1311, https://doi.org/10.1093/hmg/ddy429
Tags:
crispr, eye, genes, glaucoma, glaucoma, pigmentary
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1312–1321, https://doi.org/10.1093/hmg/ddy432
Tags:
autopsy, biopsy, exons, gene expression, heart
The effect of body mass index on smoking behaviour and nicotine metabolism: a Mendelian randomization study
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1322–1330, https://doi.org/10.1093/hmg/ddy434
Molecular signatures of X chromosome inactivation and associations with clinical outcomes in epithelial ovarian cancer
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1331–1342, https://doi.org/10.1093/hmg/ddy444
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1343–1356, https://doi.org/10.1093/hmg/ddy433
Tags:
dystonia, genes, mice, transcription, genetic, mice, knockout
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1357–1368, https://doi.org/10.1093/hmg/ddy451
General Report
A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1369–1380, https://doi.org/10.1093/hmg/ddy425
Tags:
alleles, autoimmune diseases, b-lymphocytes, datasets, genetics
Association Studies Articles
Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1381–1391, https://doi.org/10.1093/hmg/ddz011
Tags:
blood cells, dna, mitochondrial, gene expression, genes, genome
Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan
Katherine S Ruth; Ana Luiza G Soares; Maria-Carolina Borges; A Heather Eliassen; Susan E Hankinson
...
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Pages 1392–1401, https://doi.org/10.1093/hmg/ddz015
Corrigendum
Corrigendum: Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study
Human Molecular Genetics, Volume 28, Issue 8, 15 April 2019, Page 1402, https://doi.org/10.1093/hmg/ddy417