Human Molecular Genetics
@hmg_journal
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Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics.
Joined January 2019
The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.
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Rare DCM associated variants in pre-miR-208a disrupt miRNA maturation and function.
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Unraveling the genetics of gulf war illness in diverse participants enrolled in the million veteran program.
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RT @doctorveera: This is a cool paper, but not sure if the findings are impressive enough to be too excited about. The authors used a GW….
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Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
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RT @GIMJournal: Some limitations of #variant #classification and suggestions to move closer to delivering on the promise of #precision #gen….
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RT @GIMJournal: Over half of pathogenic variants in Emirati families are missing from global databases—highlighting the need for population….
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RT @ELSIhub: 🌍 New in @hmg_journal : A publication highlights how @H3Africa built lasting African-led genomics capacity—biobanks, bioinform….
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Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.
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Diverse effects of coexpression of human SOD1 variants on motor neuron disease.
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Recent insights into the role of innate immunity in lupus.
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RT @IBCSinica: 🔬Publication - by Dr. Chi-Kuang Yao @OxfordJournals .This study reveals that #mutations in KCNA3, KCNA4, and KCNA6 cause bot….
academic.oup.com
Abstract. Shaker-type potassium channel genes (Kv1) have been linked to human epilepsies, including KCNA1 (Kv1.1), KCNA2 (Kv1.2), and more recently, KCNA3
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RT @22Q11_Ireland: These findings highlight that genetic testing ascertaining the presence of neurodevelopmental CNVs might be helpful in e….
academic.oup.com
Abstract. Cleft lip and/or palate (CL/P) is the most common craniofacial congenital anomaly and has been associated with higher risk of neurodevelopmental
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RT @STITCHESMed: Advanced genetic analysis reveals that all familial cerebral cavernous malformations are linked to specific germline varia….
academic.oup.com
Abstract. Cerebral cavernous malformations (CCMs) are intracranial vascular lesions associated with risk of haemorrhages and seizures. While the majority a
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RT @STITCHESMed: Researchers discovered five new genes linked to carpal tunnel syndrome, enhancing our understanding of its genetic underpi….
academic.oup.com
Abstract. Carpal tunnel syndrome (CTS), a common peripheral nerve entrapment disorder, has a high estimated heritability index. Although previous genome-wi
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RT @FranMartinezGr: Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function #RareDisease #Ge….
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RT @DM1research: Japanese study: Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1….
academic.oup.com
Abstract. Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats in the DMPK 3′-untranslated region, affecting multiple organs, including the sk
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RT @nrken19: The genetic history of Portugal over the past 5,000 years.
link.springer.com
Background Recent ancient DNA studies uncovering large-scale demographic events in Iberia have presented very limited data for Portugal, a country located at the westernmost edge of continental...
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Second-hit CDH1 gene mechanisms in hereditary diffuse gastric and lobular breast cancer syndrome: frequency and impact on tumorigenesis.
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