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Neonatology

Free Subscription Articles published in Hum Mutat Retrieve available abstracts of 11 articles: HTML format

Single Articles

November 2022
1. EBOREIME J, Choi SK, Yoon SR, Sadybekov A, et al
   Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
   Hum Mutat. 2022 Nov 9. doi: 10.1002/humu.24493.
   PubMed     Abstract available
   
   
   
2. DAI H, Zhu W, Yuan B, Walley N, et al
   A recurrent single-exon deletion in TBCKmight be under-recognizedin patients with infantile hypotonia and psychomotor delay.
   Hum Mutat. 2022 Nov 1. doi: 10.1002/humu.24497.
   PubMed     Abstract available
   
   
   October 2022
3. CHEN ZX, Jia WN, Sun Y, Chen TH, et al
   Biallelic ADAMTSL4 Variants in a Chinese Cohort of Congenital Ectopia Lentis: Implications for Genotype-Phenotype Relationships.
   Hum Mutat. 2022 Oct 8. doi: 10.1002/humu.24483.
   PubMed     Abstract available
   
   
   August 2022
4. RIUS R, Bennett NK, Bhattacharya K, Riley LG, et al
   Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
   Hum Mutat. 2022 Aug 28. doi: 10.1002/humu.24453.
   PubMed     Abstract available
   
   
   July 2022
5. TUCKER EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, et al
   Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
   Hum Mutat. 2022 Jul 8. doi: 10.1002/humu.24432.
   PubMed     Abstract available
   
   
   May 2022
6. DILERNIA D, Amin P, Flores J, Stecenko A, et al
   Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype-resolved long-read next generation sequencing.
   Hum Mutat. 2022;43:595-603.
   PubMed     Abstract available
   
   
   January 2022
7. NATERA-DE BENITO D, Jurgens JA, Yeung A, Zaharieva IT, et al
   Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
   Hum Mutat. 2022 Jan 25. doi: 10.1002/humu.24333.
   PubMed     Abstract available
   
   
   September 2021
8. NYKAMP K, Truty R, Riethmaier D, Wilkinson J, et al
   Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
   Hum Mutat. 2021;42:1165-1172.
   PubMed     Abstract available
   
   
   August 2021
9. RAJESHWARI M, Karthi S, Singh R, Efthymiou S, et al
   Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
   Hum Mutat. 2021;42:1015-1029.
   PubMed     Abstract available
   
   
   June 2021
10. SZAFRANSKI P, Gambin T, Karolak JA, Popek E, et al
    Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.
    Hum Mutat. 2021;42:694-698.
    PubMed     Abstract available
    
    
    February 2021
11. MORGAN A, Dipresa S, Turolla L, La Bianca M, et al
    A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.
    Hum Mutat. 2021;42:213-215.
    PubMed    
    
    

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