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ADGB variants cause asthenozoospermia and male infertility
ADGB variants cause asthenozoospermia and male infertility
Asthenozoospermia is one of the main factors leading to male infertility, but the genetic mechanisms have not been fully e...
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individual...
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characteriz...
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function
CLCN2 encodes a two-pore homodimeric chloride channel protein (CLC-2) that is widely expressed in human tissues. The assoc...
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans
One of the most severe forms of infertility in humans, caused by gametogenic failure, is non-obstructive azoospermia (NOA)...
Toward a comprehensive catalog of regulatory elements
Toward a comprehensive catalog of regulatory elements
Regulatory elements are the genomic regions that interact with transcription factors to control cell-type-specific gene ex...
Great expectations: patients’ preferences for clinically significant results from genomic sequencing
Great expectations: patients’ preferences for clinically significant results from genomic sequencing
We aimed to describe patient preferences for a broad range of secondary findings (SF) from genomic sequencing (GS) and fac...
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders
Self-domestication could contribute to shaping the biology of human brain and consequently the predisposition to neurodeve...
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
Cerebral organoids are comprised of diverse cell types found in the developing human brain, and can be leveraged in the id...
Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders
Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders
Age-related macular degeneration (AMD), cataract, and glaucoma are leading causes of blindness worldwide. Previous genome-...
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the second sex chromosome and exhibit...
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Nuclear speckles are small, membrane-less organelles that reside within the nucleus. Nuclear speckles serve as a regulator...
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their ass...
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species
There has been considerable recent interest in the role that germline variants in histone genes play in Mendelian syndrome...
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
TMEM151A, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dom...
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Biallelic SHQ1 variant-related neurodevelopmental disorder is extremely rare. To date, only six affected individuals, from...
Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin
Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin
The co-occurrence of migraine and glycemic traits has long been reported in observational epidemiological studies, but it ...
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely unknown. Pathogenic variants in WNT4...
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recogni...
Beyond IBD: the genetics of other early-onset diarrhoeal disorders
Beyond IBD: the genetics of other early-onset diarrhoeal disorders
Diarrhoeal disorders in childhood extend beyond the inflammatory bowel diseases. Persistent and severe forms of diarrhoea ...
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study
Constitutional mismatch repair deficiency (CMMRD) is an aggressive and highly penetrant cancer predisposition syndrome. Be...
Interpreting variants in genes affected by clonal hematopoiesis in population data
Interpreting variants in genes affected by clonal hematopoiesis in population data
Reference population databases like the Genome Aggregation Database (gnomAD) have improved our ability to interpret the hu...
The genetics of non-monogenic IBD
The genetics of non-monogenic IBD
Inflammatory bowel disease (IBD), with Crohn’s disease and ulcerative colitis as main subtypes, is a prototypical mu...
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report tw...
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
Bi-allelic mutations in the gene coding for human trans-membrane anterior–posterior transformation protein 1 (TAPT1)...
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations
Single-nucleotide variants (SNVs) and copy number variations (CNVs) are the most common genomic variations that cause phen...
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Chatbots, web-based artificial intelligence tools that simulate human conversation, are increasingly in use to support man...
Reply to Letter about whole genome sequencing in newborns
Reply to Letter about whole genome sequencing in newborns
Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D et al (2022a) Influence of genetic information on neonatolo...
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SN...
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis
It is unclear whether gut microbiota (GM) affects the risk of optic neuritis (ON) through the “gut-brain” axis...
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