Research Papers

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Association between missense variants of uncertain significance in the <i>CHEK2</i> gene and hereditary breast cancer: …
Alonso N; Menao S; Lastra R; Arruebo M; Bueso MP; Pérez E; Murillo ML; Álvarez M; Alonso A; Rebollar S; Cruellas M; Arribas D; Ramos M; Isla D; Galano-Frutos JJ; García-Cebollada H; Sancho J; Andrés R.
Unknown Journal
Published: 2024
4/6 Transparent
Data Funding Declared
Comparative genomics and bioinformatics approaches revealed the role of CC-NBS-LRR genes under multiple stresses in pas…
Zia K; Sadaqat M; Ding B; Fatima K; Albekairi NA; Alshammari A; Tahir Ul Qamar M.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
Pangenome Analysis of <i>Helicobacter pylori</i> Isolates from Selected Areas of Africa Indicated Diverse Antibiotic Re…
Yakubu B; Appiah EM; Adu AF.
Int J Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Genetic regulation of volatile production in two melon introgression line collections with contrasting ripening behavio…
Mayobre C; Santo Domingo M; Özkan EN; Fernández-Borbolla A; Ruiz-Lasierra J; Garcia-Mas J; Pujol M.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
A haplotype-resolved gap-free genome assembly provides novel insight into monoterpenoid diversification in <i>Mentha su…
Yang H; Wang C; Zhou G; Zhang Y; He T; Yang L; Wu Y; Wang Z; Tang X; Chen G; Liu Z; Tang H; Zhou H; Kang X; Zhang S; Leng L; Chen S; Song C.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
Efficient targeted mutagenesis in tetraploid <i>Pogostemon cablin</i> by the CRISPR/Cas9-mediated genomic editing syste…
Xu S; Li F; Zhou F; Li J; Cai S; Yang S; Wang J.
Hortic Res (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
PMAT: an efficient plant mitogenome assembly toolkit using low-coverage HiFi sequencing data.
Bi C; Shen F; Han F; Qu Y; Hou J; Xu K; Xu LA; He W; Wu Z; Yin T.
Unknown Journal
Published: 2024
5/6 Transparent
Data Code Funding Declared
Functional polymorphisms of <i>NOS3</i> and <i>GUCY1A3</i> affect both nitric oxide formation and association with hype…
Pereira DA; Luizon MR; Palei AC; Tanus-Santos JE; Cavalli RC; Sandrim VC.
Front Genet (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Differentially expressed microRNAs targeting genes in key pathways in keratoconus.
Nowak-Malczewska DM; Swierkowska J; Gajecka M.
Front Genet (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
External proficiency testing for histocompatibility and immunogenetics in today and future.
Oguz FS.
Front Genet (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Connecting epigenetics and inflammation in vascular senescence: state of the art, biomarkers and senotherapeutics.
Fraile-Martinez O; De Leon-Oliva D; Boaru DL; De Castro-Martinez P; Garcia-Montero C; Barrena-Blázquez S; García-García J; García-Honduvilla N; Alvarez-Mon M; Lopez-Gonzalez L; Diaz-Pedrero R; Guijarro LG; Ortega MA.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and …
Guelbert N; Espitia Segura OM; Amoretti C; Arteaga Arteaga A; Atanacio NG; Bazan Natacha S; Carvalho EDF; Carvalho de Andrade MDF; Denzler IM; Durand C; Ribeiro E; Giugni JC; González G; González Moron D; Guelbert G; Hernández Rodriguez ZJ; Embiruçu Emilia K; Kauffman MA; Mancilla NI; Marcon L; Marques Pereira A; Fischinger Moura de Souza C; Muñoz VA; Naranjo Flórez RA; Pessoa AL; Ruiz MV; Solano Villareal ML; Spécola N; Tavera LM; Tello J; Troncoso Schifferli M; Ugrina S; Vaccarezza MM; Vergara D; Villanueva MM.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D; Kingma SDK; Jonckheere AI; Smeets-Peels CS; Gomes DC; Duro J; Oliveira A; Matthijs G; Steinbusch LKM; Jaeken J; Rivera I; Rubio-Gozalbo E.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family membe…
Koto Y; Yamashita W; Sakai N.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
A novel <i>GATA3</i> frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrom…
Huang B; Li S; Chai Y; Fan Y; Li X; Liu Y; Fu Y; Song X; Cui J.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a s…
Almenabawy N; Bahl S; Ostlund AL; Ghai-Jain S; Sosova I; Chan A; Mercimek-Andrews S.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Data
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of dia…
Doerr A; Farooq M; Faulkner C; Gould R; Perry K; Pulikottil-Jacob R; Rajasekhar P.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.
Chen HA; Hsu RH; Chen LC; Lee NC; Chiu PC; Hwu WL; Chien YH.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: Wha…
Upadia J; Crivelly K; Noh G; Cunningham A; Cerminaro C; Li Y; Mckoin M; Chenevert M; Andersson HC.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and <i>in vivo</i> brain proton MR…
Marten LM; Krätzner R; Salomons GS; Fernandez Ojeda M; Dechent P; Gärtner J; Huppke P; Dreha-Kulaczewski S.
Mol Genet Metab Rep (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Microbiome changes through the ontogeny of the marine sponge Crambe crambe.
Turon M; Ford M; Maldonado M; Sitjà C; Riesgo A; Díez-Vives C.
Unknown Journal
Published: 2024
4/6 Transparent
Data Funding Declared
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the …
Mansoorshahi S; Scurlock C; Research Registry SABOTTSSOTUS; Prakash SK.
Unknown Journal
Published: 2024
4/6 Transparent
Code Funding Declared
The role of Smarcad1 in retroviral repression in mouse embryonic stem cells.
Bren I; Tal A; Strauss C; Schlesinger S.
Unknown Journal
Published: 2024
3/6 Transparent
Funding Declared
The RNA sequencing results revealed the expression of different genes and signaling pathways during chemotherapy resist…
Lan Y; Tao W; Ma L; Wang X; Li H; Du Y; Yang R; Wu S; Ou Y; Liu X; Huang Y; Zhou Y.
Unknown Journal
Published: 2024
4/6 Transparent
Data Funding Declared
Genotype-by-environment interactions govern fitness changes associated with adaptive mutations in two-component respons…
Sanders BR; Miller JE; Ahmidouch N; Graves JL; Thomas MD.
Unknown Journal
Published: 2024
4/6 Transparent
Data Funding Declared