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Articles published in Hum Mutat

Retrieve available abstracts of 48 articles:
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    July 2021
  1. 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
  2. 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

  3. 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
  4. 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
  5. 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

  6. 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

  7. 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

  8. 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
  9. 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

  10. 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

  11. 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
  12. 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.

    November 2020
  13. 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

    September 2020
  14. AKESSON LS, Bournazos A, Fennell A, Krzesinski EI, et al
    Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
    Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24101.
    PubMed     Abstract available

    July 2020
  15. CHEN CA, Crutcher E, Gill H, Nelson TN, et al
    The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
    Hum Mutat. 2020 Jul 9. doi: 10.1002/humu.24075.
    PubMed     Abstract available

    June 2020
  16. KOLBEL H, Roos A, van der Ven PFM, Evangelista T, et al
    First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC.
    Hum Mutat. 2020 Jun 9. doi: 10.1002/humu.24062.
    PubMed     Abstract available

    February 2020
  17. YANG Y, Guo T, Liu R, Ke H, et al
    FANCL gene mutations in premature ovarian insufficiency.
    Hum Mutat. 2020 Feb 12. doi: 10.1002/humu.23997.
    PubMed     Abstract available

  18. DE FRANCO E, Saint-Martin C, Brusgaard K, Knight Johnson AE, et al
    Update of variants identified in the pancreatic beta-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
    Hum Mutat. 2020 Feb 6. doi: 10.1002/humu.23995.
    PubMed     Abstract available

    January 2020
  19. DOISNE N, Waldmann V, Redheuil A, Waintraub X, et al
    A Novel Gain-of-function Mutation in SCN5A Responsible for Multifocal Ectopic Purkinje-related Premature Contractions.
    Hum Mutat. 2020 Jan 12. doi: 10.1002/humu.23981.
    PubMed     Abstract available

  20. GUPTA V, Kulkarni A, Warang P, Devendra R, et al
    Mutation Update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
    Hum Mutat. 2020 Jan 3. doi: 10.1002/humu.23973.
    PubMed     Abstract available

    November 2019
  21. RODRIGUEZ CRUZ PM, Cossins J, Cheung J, Maxwell S, et al
    Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
    Hum Mutat. 2019 Nov 25. doi: 10.1002/humu.23949.
    PubMed     Abstract available

  22. MIZUMOTO S, Janecke AR, Sadeghpour A, Povysil G, et al
    CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age.
    Hum Mutat. 2019 Nov 9. doi: 10.1002/humu.23952.
    PubMed     Abstract available

    September 2019
  23. JOURDAIN AS, Petit F, Odou MF, Balduyck M, et al
    Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
    Hum Mutat. 2019 Sep 10. doi: 10.1002/humu.23912.
    PubMed     Abstract available

  24. LIU Z, Yu C, Li Q, Cai R, et al
    Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
    Hum Mutat. 2019 Sep 6. doi: 10.1002/humu.23911.
    PubMed     Abstract available

    August 2019
    Congenital disorders of glycosylation and the challenge of rare diseases.
    Hum Mutat. 2019 Aug 2. doi: 10.1002/humu.23829.
    PubMed     Abstract available

  26. NAZARYAN-PETERSEN L, Oliveira IR, Mehrjouy MM, Mendez JMM, et al
    Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.
    Hum Mutat. 2019;40:1057-1062.
    PubMed     Abstract available

    July 2019
  27. BALLIN N, Hotz A, Bourrat E, Kusel J, et al
    Genetical, clinical and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
    Hum Mutat. 2019 Jul 26. doi: 10.1002/humu.23883.
    PubMed     Abstract available

    June 2019
  28. 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     Abstract available

  29. 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     Abstract available

  30. AMATO F, Scudieri P, Musante I, Tomati V, et al
    Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
    Hum Mutat. 2019;40:742-748.
    PubMed     Abstract available

    March 2019
  31. 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     Abstract available

    February 2019
  32. 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     Abstract available

  33. WEUSTENFELD M, Eidelpes R, Schmuth M, Rizzo WB, et al
    Genotype and phenotype variability in Sjogren-Larsson syndrome.
    Hum Mutat. 2019;40:177-186.
    PubMed     Abstract available

    December 2018
  34. 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     Abstract available

  35. 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     Abstract available

    November 2018
  36. 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     Abstract available

  37. 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     Abstract available

  38. YOUSSEFIAN L, Vahidnezhad H, Saeidian AH, Mahmoudi H, et al
    A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma.
    Hum Mutat. 2018 Nov 15. doi: 10.1002/humu.23686.
    PubMed     Abstract available

    October 2018
  39. 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     Abstract available

    August 2018
  40. 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     Abstract available

    July 2018
  41. 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     Abstract available

    June 2018
  42. 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     Abstract available

    December 2017
  43. 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     Abstract available

    November 2017
  44. 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     Abstract available

    October 2017
  45. 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     Abstract available

    September 2017
  46. 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     Abstract available

    June 2017
  47. 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     Abstract available

    April 2017
  48. 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     Abstract available

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