whole-exome sequencing

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1
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake, Nicole J;Webb, Bryn D;Stroud, David A;Richman, Tara R;Ruzzenente, Benedetta;Compton, Alison G;...
2017 American journal of human genetics DOI: S0002-9297(17)30283-... 169 views
2
γ-ray Constraints on Decaying Dark Matter and Implications for IceCube.
Cohen, Timothy;Murase, Kohta;Rodd, Nicholas L;Safdi, Benjamin R;Soreq, Yotam;
2017 physical review letters DOI: 10.1103/PhysRevLett.... 184 views
3
balsa: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by gpu
;Ruibang Luo;Yiu-Lun Wong;Wai-Chun Law;Lap-Kei Lee;Jeanno Cheung;Chi-Man Liu;Tak-Wah Lam
2014 pediatrics DOI: 10.7717/peerj.421 167 views
4
In search for genetic explanation for LDLc variabily in an FH family: Common SNPs and a rare mutation in microsomal triglyceride transfer protein explain only part of LDL variability in an FH family.
Winther, Michael;Shpitzen, Shoshi;Yaacov, Or;Landau, Jakob;Oren, Limor;Foroozan-Rosenberg, Linda;Lev...
2019 journal of lipid research DOI: jlr.M092049 265 views
5
Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.
Ou, Minglin;Li, Chunhong;Tang, Donge;Xue, Wen;Xu, Yong;Zhu, Peng;Li, Bo;Xie, Jiansheng;Chen, Jiejing...
2019 stem cell research & therapy DOI: 10.1186/s13287-019-1... 297 views
6
Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.
Simba, Hannah;Kuivaniemi, Helena;Lutje, Vittoria;Tromp, Gerard;Sewram, Vikash;
2019 Frontiers in genetics DOI: 10.3389/fgene.2019.0... 209 views
7
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Gao, Meng;Zhang, Su;Liu, Chunjie;Qin, Yayun;Archacki, Stephen;Jin, Ling;Wang, Yong;Liu, Fei;Chen, Ji...
2016 molecular vision 262 views
8
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda, María Carmen;Barboza-Quintana, Oralia;Martínez-Aldape, Gerardo;Garza-Guajardo, Raquel...
2019 molecular genetics & genomic medicine DOI: 10.1002/mgg3.931 234 views
9
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Karsak, Meliha;Glebov, Konstantin;Scheffold, Marina;Bajaj, Thomas;Kawalia, Amit;Karaca, Ilker;Rading...
2019 human mutation DOI: 10.1002/humu.23904 225 views
10
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population.
Salehi Chaleshtori, Ahmad Reza;Garshasbi, Masoud;Salehi, Ali;Noruzinia, Mehrdad;
2019 European journal of medical genetics DOI: S1769-7212(19)30297-... 248 views
11
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Xiao, Bing;Wang, Lili;Liu, Huili;Fan, Yanjie;Xu, Yan;Sun, Yu;Qiu, Wenjuan;
2019 molecular genetics & genomic medicine DOI: 10.1002/mgg3.945 195 views
12
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao, Jia;Liu, Xiaorong;Mao, Jianhua;Tang, Xiaoshan;Shen, Qian;Li, Guomin;Sun, Li;Bi, Yunli;Wang, Xia...
2019 Clinical genetics DOI: 10.1111/cge.13606 224 views
13
Rare variants in FANCA induce premature ovarian insufficiency.
Yang, Xi;Zhang, Xiaojin;Jiao, Jiao;Zhang, Feng;Pan, Yuncheng;Wang, Qiqi;Chen, Qing;Cai, Baozhu;Tang,...
2019 human genetics DOI: 10.1007/s00439-019-0... 262 views
14
A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.
Wu, Wenjuan;Lin, Keqin;Yang, Yanni;Dong, ZhaoXing;Zhang, Tao;Lei, Wen;Yang, Weimin;Yang, Zhaoqing;
2019 Medicine DOI: 10.1097/MD.000000000... 244 views
15
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Lyon, Gholson J;Marchi, Elaine;Ekstein, Joseph;Meiner, Vardiella;Hirsch, Yoel;Scher, Sholem;Yang, Ed...
2019 cold spring harbor molecular case studies DOI: mcs.a003715 207 views
16
The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation.
Mu, Jian;Zhang, Zhihua;Wu, Ling;Fu, Jing;Chen, Biaobang;Yan, Zheng;Li, Bin;Zhou, Zhou;Wang, Wenjing;...
2020 molecular human reproduction DOI: gaaa003 225 views
17
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto, Valentina;Ullah, Farid;Di Meo, Ivano;Magini, Pamela;Gusic, Mirjana;Maresca, Alessandra;Ca...
2020 The Journal of clinical investigation DOI: 10.1172/JCI128514 284 views
18
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
Kim, Nayoung K D;Higashi, Tomohito;Lee, Kyoung Yeul;Kim, Ah Reum;Kitajiri, Shin-ichiro;Kim, Min Youn...
2015 PloS one 191 views
20
Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse
Garg M;Nagata Y;Kanojia D;Mayakonda A;Yoshida K;Haridas Keloth S;Zang ZJ;Okuno Y;Shiraishi Y;Chiba K...
2015 Blood 285 views
21
Recurrent CCND3 mutations in MLL-rearranged acute myeloid leukemia
Matsuo H;Yoshida K;Fukumura K;Nakatani K;Noguchi Y;Takasaki S;Noura M;Shiozawa Y;Shiraishi Y;Chiba K...
2018 blood advances 564 views

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respiratory chain quantitative proteomics leigh syndrome mitochondrial translation mitochondrial ribosome ribosome profiling mrps34 mitochondrial diseases gpu secondary analysis