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Articles published in Hum Mutat

Retrieve available abstracts of 15 articles:
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Single Articles


    September 2021
  1. YANG Z, Slone J, Wang X, Zhan J, et al
    Validation of Low Coverage Whole Genome Sequencing for Mitochondrial DNA Variants Suggests Mitochondrial DNA as a Genetic Cause of Preterm Birth.
    Hum Mutat. 2021 Sep 1. doi: 10.1002/humu.24279.
    PubMed     Abstract available


    July 2021
  2. HEENEY MM, Berhe S, Campagna DR, Oved JH, et al
    SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
    Hum Mutat. 2021 Jul 23. doi: 10.1002/humu.24267.
    PubMed     Abstract available


  3. OLINGER E, Alawi IA, Molinari E, Faqeih EA, et al
    A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
    Hum Mutat. 2021 Jul 2. doi: 10.1002/humu.24251.
    PubMed     Abstract available


    June 2021
  4. FILATOVA AY, Vasilyeva TA, Marakhonov AV, Sukhanova NV, et al
    Upstream ORF frameshift variants in the PAX6 5'UTR cause Congenital Aniridia.
    Hum Mutat. 2021 Jun 26. doi: 10.1002/humu.24248.
    PubMed     Abstract available


  5. MA A, Grigg JR, Flaherty M, Smith J, et al
    Genome sequencing in congenital cataracts improves diagnostic yield.
    Hum Mutat. 2021 Jun 8. doi: 10.1002/humu.24240.
    PubMed     Abstract available


    May 2021
  6. SZOT JO, Slavotinek A, Chong K, Brandau O, et al
    New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder.
    Hum Mutat. 2021 May 3. doi: 10.1002/humu.24211.
    PubMed     Abstract available


    February 2021
  7. NALLAMILLI BRR, Chaubey A, Valencia CA, Stansberry L, et al
    A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
    Hum Mutat. 2021 Feb 28. doi: 10.1002/humu.24191.
    PubMed     Abstract available


  8. LUNA S, Torices L, Mingo J, Amo L, et al
    A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons.
    Hum Mutat. 2021 Feb 18. doi: 10.1002/humu.24186.
    PubMed     Abstract available


  9. BEECROFT SJ, Ayala M, McGillivray G, Nanda V, et al
    Bi-allelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
    Hum Mutat. 2021 Feb 10. doi: 10.1002/humu.24179.
    PubMed     Abstract available


  10. DE FARIA DOS, In 't Groen SLM, Hoogeveen-Westerveld M, Nino MY, et al
    Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
    Hum Mutat. 2021;42:119-134.
    PubMed     Abstract available


    January 2021
  11. WANG H, Xiao F, Dong X, Lu Y, et al
    Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project (CNGP).
    Hum Mutat. 2021 Jan 27. doi: 10.1002/humu.24170.
    PubMed     Abstract available


  12. CORREIA SP, Moedas MF, Naess K, Bruhn H, et al
    Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
    Hum Mutat. 2021 Jan 27. doi: 10.1002/humu.24173.
    PubMed     Abstract available


  13. SAINT-MARTIN C, Miere MC, Rex E, Soukarieh O, et al
    Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism.
    Hum Mutat. 2021 Jan 7. doi: 10.1002/humu.24164.
    PubMed     Abstract available


    December 2020
  14. MASSON E, Ferec C, Chen JM
    The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
    Hum Mutat. 2020 Dec 16. doi: 10.1002/humu.24153.
    PubMed    


    November 2020
  15. WINTJES LTM, Kava M, van den Brandt FA, van den Brand MAM, et al
    A Novel Variant in COX16 Causes Cytochrome c Oxidase Deficiency, Severe Fatal Neonatal Lactic Acidosis, Encephalopathy, Cardiomyopathy and Liver Dysfunction.
    Hum Mutat. 2020 Nov 10. doi: 10.1002/humu.24137.
    PubMed     Abstract available


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