Research Papers

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A new line method; A direct test in spinal muscular atrophy screening for DBS.
Kubar A; Temel SG; Beken S; Onder G; Hatirnaz O; Korkmaz A; Alanay Y; Ozbek U; Sag SO; Ergoren MC; Kubar E; Sonmezalp CZ; Doğan O.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlat…
Zhao W; Zhang Y; Lv T; He J; Zhu B.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including…
Jiang L; Bi S; Lin L; He F; Deng F.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Genomic testing in voluntary workplace wellness programs in the US: Evidence and challenges.
Cohn B; Ryan KA; Hendy K; Callahan K; Roberts JS; Spector-Bagdady K; Mathews DJH; INSIGHT @ Work Consortium.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dag…
Bardakov SN; Deev RV; Isaev АА; Khromov-Borisov NN; Kopylov ED; Savchuk МR; Pushkin MS; Presnyakov EV; Magomedova RM; Achmedova PG; Umakhanova ZR; Kaimonov VS; Musatova EV; Blagodatskikh KА; Tveleneva AА; Sofronova YV; Yakovlev IA.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell-free DNA as breast cancer biomarkers in Peruvian women.
Danos P; Giannoni-Luza S; Murillo Carrasco AG; Acosta O; Guevara-Fujita ML; Cotrina Concha JM; Guerra Miller H; Pinto Oblitas J; Aguilar Cartagena A; Araujo JM; Fujita R; Buleje Sono JL.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Caregiver-based perception of disease burden in Schaaf-Yang syndrome.
Dötsch L; Matesevac L; Strong TV; Schaaf CP.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Noonan syndrome: rhGH treatment and PTPN11 mutation.
Wu X; Wu J; Yuan Y; Yang L; Yu L.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.
He T; Yao Q; Xu B; Yang M; Jiang J; Xiang Q; Xiao L; Liu S; Wang H; Zhang X.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile br…
Shengjia S; Lei W; Tianwei W; Hongmei W; Juanzi S; Sen Q.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelop…
Zhang L; Li XY; Xu F; Gao L; Wang Z; Wang X; Li X; Liu M; Zhu J; Yao T; Ye J; Qi XH; Wang Y; Zhao G; Wang C; Xuanwu Molecular Counselling Group for Neurogenetic Diseases.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Marshall AE; MacDonald SK; Liang Y; Couse M; Care4Rare Canada Consortium; Boycott KM; Richer J; Kernohan KD.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chro…
Zhang Q; Wang Y; Zhou J; Zhou R; Liu A; Meng L; Ji X; Hu P; Xu Z.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.
Heo WY; Jang SY; Park TK; Ki CS; Kim JW; Kim DK; Jang JH.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
Byrjalsen A; Stoltze U; Mehrjouy M; Frederiksen JH; Bak M; Birkedal U; Hasle H; Gerdes AM; Schmiegelow K; Wadt K; Hansen TVO.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Bonfim-Freitas PE; Andrade RS; Ribeiro-Dos-Santos ÂK; Silva LCS.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Wang D; Wu J.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense …
Yi S; Qin Z; Zhou X; Chen J; Yi S; Chen Q; Huang L; Zhang Q; Chen B; Luo J.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.
Yu Y; Zhen Q; Chen W; Yu Y; Li Z; Wang Y; Fan W; Luo S; Wang D; Bai Y; Bian Z; He M; Sun L.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.
Sun X; Luo X; Lin L; Wang S; Wang C; Yuan F; Lan X; Yan J; Chen Y.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage d…
Hsu RH; Chen HA; Chien YH; Hwu WL; Lin JL; Weng HL; Lin YT; Lin YC; Lee NC.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literat…
Li C; Wen Y; Zhao M; Wang Y; Li P; Wang L; Wang S.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort…
Chen Y; Zhang Y; Huang J; Zeng Y; Qian Y; Chen J; Chen G; Xia G; Wang C; Feng A; Li Z; Chen L; Zheng S; Li F; Weng Z; Zhang C; Yang Y; Lin J; Wu J; Zhang H; Ouyang W; Nie X.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with pr…
Yang Z; Huang M; Wei X; Sun J; Zhang F.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature r…
Xue Y; Zhao Y; Wu B; Shu J; Yan D; Li D; Yu X; Cai C.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared