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Articles published in Hum Mutat

Retrieve available abstracts of 18 articles:
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Single Articles

    June 2019
  1. SULEIMAN J, Riedhammer KM, Jicinsky T, Mundt M, et al
    Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
    Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23844.
    PubMed     Text format     Abstract available

  2. DEL ANGEL G, Hutchinson AT, Jain NK, Forbes CD, et al
    Large-scale functional LIPA variant characterization to improve birth prevalence estimates of Lysosomal Acid Lipase Deficiency.
    Hum Mutat. 2019 Jun 10. doi: 10.1002/humu.23837.
    PubMed     Text format     Abstract available

    March 2019
  3. TUCKER EJ, Jaillard S, Grover SR, van den Bergen J, et al
    TP63-truncating variants cause isolated premature ovarian insufficiency.
    Hum Mutat. 2019 Mar 29. doi: 10.1002/humu.23744.
    PubMed     Text format     Abstract available

    February 2019
  4. VERRIGNI D, Nottia MD, Ardissone A, Baruffini E, et al
    Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
    Hum Mutat. 2019 Feb 22. doi: 10.1002/humu.23729.
    PubMed     Text format     Abstract available

    December 2018
  5. SUN M, Chen C, Hou S, Li X, et al
    A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
    Hum Mutat. 2018 Dec 25. doi: 10.1002/humu.23696.
    PubMed     Text format     Abstract available

  6. YOUSSEFIAN L, Vahidnezhad H, Saeidian AH, Touati A, et al
    Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
    Hum Mutat. 2018 Dec 22. doi: 10.1002/humu.23695.
    PubMed     Text format     Abstract available

    November 2018
  7. CLARKE LA, Awatade NT, Felicio VM, Silva IA, et al
    The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
    Hum Mutat. 2018 Nov 28. doi: 10.1002/humu.23692.
    PubMed     Text format     Abstract available

  8. PATHAK SJ, Mueller JL, Okamoto K, Das B, et al
    EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
    Hum Mutat. 2018 Nov 21. doi: 10.1002/humu.23688.
    PubMed     Text format     Abstract available

    October 2018
  9. DAVIDS M, Markello T, Wolfe LA, Chepa-Lotrea X, et al
    Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
    Hum Mutat. 2018 Oct 25. doi: 10.1002/humu.23675.
    PubMed     Text format     Abstract available

    August 2018
  10. ZAHARIEVA I, Sarkozy A, Munot P, Manzur A, et al
    STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
    Hum Mutat. 2018 Aug 31. doi: 10.1002/humu.23635.
    PubMed     Text format     Abstract available

    July 2018
  11. HOTZ A, Bourrat E, Kusel J, Oji V, et al
    Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hum Mutat. 2018 Jul 16. doi: 10.1002/humu.23594.
    PubMed     Text format     Abstract available

    June 2018
  12. KISELEV A, Vaz R, Knyazeva A, Khudiakov A, et al
    De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
    Hum Mutat. 2018 Jun 1. doi: 10.1002/humu.23559.
    PubMed     Text format     Abstract available

    December 2017
  13. DHEKNE HS, Pylypenko O, Overeem AW, Ferreira RJ, et al
    MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
    Hum Mutat. 2017 Dec 21. doi: 10.1002/humu.23386.
    PubMed     Text format     Abstract available

    November 2017
  14. DI LASCIO S, Benfante R, Di Zanni E, Cardani S, et al
    Structural and functional differences in phox2b frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
    Hum Mutat. 2017 Nov 2. doi: 10.1002/humu.23365.
    PubMed     Text format     Abstract available

    October 2017
  15. MARSH AP, Edwards TJ, Galea C, Cooper HM, et al
    DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome.
    Hum Mutat. 2017 Oct 25. doi: 10.1002/humu.23361.
    PubMed     Text format     Abstract available

    September 2017
  16. VENET T, Masson E, Talbotec C, Billiemaz K, et al
    Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
    Hum Mutat. 2017 Sep 25. doi: 10.1002/humu.23343.
    PubMed     Text format     Abstract available

    June 2017
  17. ALSINA CASANOVA M, Monteagudo-Sanchez A, Rodiguez Guerineau L, Court F, et al
    Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
    Hum Mutat. 2017;38:615-620.
    PubMed     Text format     Abstract available

    April 2017
  18. BOHM J, Bulla M, Urquhart JE, Malfatti E, et al
    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
    Hum Mutat. 2017;38:426-438.
    PubMed     Text format     Abstract available

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