Research Papers

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Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese fam…
Zhang J; Liu H; Wang M; Xu Y; Zhu D; Yang F.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Tian R; Tong P; He Y; Zang L; Zhou S; Tian Q.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.
Zhao Y; Ren J; Meng L; Hou Y; Liu C; Zhang G; Shen W.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpat…
Rosina E; Pezzani L; Apuril E; Pezzoli L; Marchetti D; Bellini M; Lucca C; Meossi C; Massimello M; Mariani M; Scatigno A; Cattaneo E; Colombo L; Maitz S; Cereda A; Milani D; Spaccini L; Bedeschi MF; Selicorni A; Iascone M.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up.
Kun L; Jiexiang H; Hua L; Junlin H; Yijun R; Lixian Z; Mingqiao C.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochon…
Zhao Y; Hou Y; Zhao X; Liufu T; Yu M; Zhang W; Xie Z; Zhang VW; Yuan Y; Wang Z.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a sing…
Kina BG; Topbas Selcuki NF; Bahat PY; Usta T; Aydin S; Rahmioglu N; Tuncer FN; Oral E.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese fa…
Tian X; Zhang X; Zhang Q; Chen X; Zhou B; Ma P; Zheng L; Hao S; Ling J; Zhang C; Hui L.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilo…
Ibrahim F; Velayutham D; Alsharshani M; AlAlami U; AlDewik M; Abuarja T; Al Rifai H; Al-Dewik NI.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature …
Su L; Peng MZ; Chen XD; Wu S; Liu L.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
Tan Y; Tian H; Mai J; Wang H; Yang M; Liu S.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-rel…
Zheng Z; Ding L; Wang M; Zhang Y; Yang Y; Tang M; Xu J; Wang L; Wu J; Li H.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.
Sun Q; Xie Z; Wang F; Guo J; Yan X.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Optical genome mapping reveals balanced and unbalanced genetic changes associated with tumor-forming potential in an ea…
Paulraj P; Barrie E; Jackson-Cook C.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B; Zhang H; Kan Y; Gao X; Du Z; Liu Q.
Mol Genet Genomic Med (Unknown)
Published: 2023
2/6 Transparent
Comprehensive application of multiple molecular diagnostic techniques in pre-implantation genetic testing for monogenic.
Huang P; Lan Y; Zhou H; Lin L; Shu J; Wang C; Zhao X; Liang L; He S; Mou J; Zhang X; Qiu Q; Wei H.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.
Shen W; Li Y.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.
Hoff FW; Xing C; Simha V; Agarwal AK; Zhang X; Lekkala L; Vaishnav MS; Vuitch F; Garg A.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared
Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary ad…
Bruzaite A; Gedvilaite G; Kriauciuniene L; Liutkeviciene R.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in…
Oshi MAM; Alfaifi J; Alqahtani YAM; Aljabri MF; Kamal NM; Althopaity J; Althobaiti KA; Almalki AM; Abosabie SAS; Abosabie SA; Sherbiny HS; Almanjoomi SK; Abdallah EAA.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Gender-dependent multiple cross-phenotype association of interferon lambda genetic variants with peripheral blood profi…
Roy DG; Singh L; Chaturvedi HK; Chinnaswamy S.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A sy…
Hu Y; Li Z; Ren Y; Dai H.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency …
Verma A; Lehman AN; Gokcan H; Cropcho L; Black D; Dobrowolski SF; Vockley J; Bedoyan JK.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M; Bolanowska-Tyszko A; Latos-Bielenska A; Jezela-Stanek A; Szczaluba K; Krajewska-Walasek M; Ciara E; Pelc M; Jurkiewicz D; Stawinski P; Zubkiewicz-Kucharska A; Rydzanicz M; Ploski R; Smigiel R.
Mol Genet Genomic Med (Unknown)
Published: 2023
3/6 Transparent
Funding Declared
Exome sequencing findings in children with annular pancreas.
Pitsava G; Pankratz N; Lane J; Yang W; Rigler S; Shaw GM; Mills JL.
Mol Genet Genomic Med (Unknown)
Published: 2023
4/6 Transparent
Data Funding Declared