Works matching DE "EXOMES"

Results: 1976

Exploring the Heterogeneity of Non-Syndromic Hearing Loss: A Comprehensive Review of Implicated Genes and the Role of Whole Exome Sequencing.

Published in:

University of Thi-Qar Journal of Science, 2023, v. 10, n. 2, p. 192, doi. 10.32792/utq/utjsci/v10i2.1143

By:

Barrak, Mohammed M.;
Hami, Hasan Jasim;
Bonyadi, Morteza;
Al Ali, Mohammed D.;
Muttair, Riam Yousfe;
Abd, Rawa Abdulkareem

Publication type:

Article

Whole‐exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.

Published in:

Liver International, 2019, v. 39, n. 1, p. 177, doi. 10.1111/liv.13967

By:

Kluska, Anna;
Kulecka, Maria;
Litwin, Tomasz;
Dziezyc, Karolina;
Balabas, Aneta;
Piatkowska, Magdalena;
Paziewska, Agnieszka;
Dabrowska, Michalina;
Mikula, Michal;
Kaminska, Diana;
Wiernicka, Anna;
Socha, Piotr;
Czlonkowska, Anna;
Ostrowski, Jerzy

Publication type:

Article

Mutations in the novel gene <italic>FOPV</italic> are associated with familial autosomal dominant and non‐familial obliterative portal venopathy.

Published in:

Liver International, 2018, v. 38, n. 2, p. 358, doi. 10.1111/liv.13547

By:

Besmond, Claude;
Hubert, Laurence;
Poirier, Karine;
Valla, Dominique;
Grosse, Brigitte;
Gonzales, Emmanuel;
Jacquemin, Emmanuel;
Guettier, Catherine;
Bernard, Olivier

Publication type:

Article

A pilot study on the use of cerebrospinal fluid cell-free DNA in intramedullary spinal ependymoma.

Published in:

Journal of Neuro-Oncology, 2017, v. 135, n. 1, p. 29, doi. 10.1007/s11060-017-2557-y

By:

Connolly, Ian;
Li, Yingmei;
Pan, Wenying;
Johnson, Eli;
You, Linya;
Vogel, Hannes;
Ratliff, John;
Hayden Gephart, Melanie

Publication type:

Article

Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.

Published in:

Molecular Medicine, 2020, v. 26, n. 1, p. N.PAG, doi. 10.1186/s10020-020-00244-5

By:

Hartin, Samantha N.;
Means, John C.;
Alaimo, Joseph T.;
Younger, Scott T.

Publication type:

Article

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.

Published in:

2017

By:

Kawano, Takafumi;
Hosomichi, Kazuyoshi;
Inoue, Ituro;
Shimono, Ryuichi;
Onishi, Shun;
Nakame, Kazuhiko;
Kaji, Tatsuru;
Matsufuji, Hiroshi;
Ieiri, Satoshi

Publication type:

journal article

Recent Advancements in Comprehensive Genetic Analyses for Human Hepatocellular Carcinoma.

Published in:

Oncology, 2013, v. 84, p. 93, doi. 10.1159/000345897

By:

Nishida, Naoshi;
Kudo, Masatoshi

Publication type:

Article

Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.

Published in:

Cardiology, 2017, v. 137, n. 2, p. 78, doi. 10.1159/000455181

By:

Yu, Rong;
Liu, Lv;
Chen, Chan;
Shen, Jin-Mei

Publication type:

Article

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.

Published in:

Cardiology, 2016, v. 136, n. 1, p. 10, doi. 10.1159/000447422

By:

Liu, Ji-Shi;
Fan, Liang-Liang;
Zhang, Hao;
Liu, Xiaoxian;
Huang, Hao;
Tao, Li-Jian;
Xia, Kun;
Xiang, Rong

Publication type:

Article

Erratum to: Exome Sequencing of SLC30A2 Identifies Novel Loss- and Gain-of-Function Variants Associated with Breast Cell Dysfunction.

Published in:

2016

By:

Alam, Samina;
Hennigar, Stephen;
Gallagher, Carla;
Soybel, David;
Kelleher, Shannon

Publication type:

Erratum

A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2022, v. 30, n. 4, p. 258, doi. 10.5336/caserep.2022-89352

By:

KAYHAN, Gülsüm;
KAZAN, Hasan Hüseyin;
OZTÜRK, Kübra;
SEZER, Abdullah;
PERÇİN, Emriye Ferda

Publication type:

Article

Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients.

Published in:

Clinical & Experimental Hepatology, 2020, v. 6, n. 4, p. 347, doi. 10.5114/ceh.2020.102156

By:

Gürünlüoğlu, Kubilay;
Koç, Ahmet;
Durmuş, Kübra;
Bağ, Harika Gözükara;
Ceran, Canan;
Gürünlüoğlu, Semra;
Yıldız, Turan;
Gül, Mehmet;
Demircan, Mehmet

Publication type:

Article

Whole exome sequencing coupled with in silico functional analysis identified NID1 as a novel candidate gene causing neuro-psychiatric disorder in a Pakistani family.

Published in:

Journal of the National Science Foundation of Sri Lanka, 2023, v. 51, n. 4, p. 643, doi. 10.4038/jnsfsr.v51i4.11256

By:

Muzammal, M.;
Ahmad, S.;
Ali, M. Z.;
Fatima, S.;
Abbas, S.;
Khan, J.;
Ullah, H.;
Shah, W.;
Duan, L.;
Khan, M. A.

Publication type:

Article

Use of Genomic Tools to Improve Production Efficiency, Health Resilience and Carbon Footprint of Beef Production.

Published in:

Journal of Animal Science, 2021, v. 99, p. 90, doi. 10.1093/jas/skab235.161

By:

Basarab, John A.;
Changxi Li;
Stothard, Paul;
Fitzsimmons, Carolyn J.;
Plastow, Graham

Publication type:

Article

Identification of Structural Variants Associated with Mastitis in Holstein Dairy Cows Using Whole Genome Sequencing and RNA-sequencing.

Published in:

Journal of Animal Science, 2021, v. 99, p. 6, doi. 10.1093/jas/skab235.011

By:

Asselstine, Victoria;
Medrano, Juan F. F.;
Muniz, Malane M. M.;
Cánovas, Angela

Publication type:

Article

A survey of polymorphisms detected from sequences of popular beef breeds.

Published in:

Journal of Animal Science, 2015, v. 93, n. 11, p. 5128, doi. 10.2527/jas.2015-9356

By:

Snelling, W. M.;
Bennett, G. L.;
Keele, J. W.;
Kuehn, L. A.;
McDaneld, T. G.;
Smith, T. P.;
Thallman, R. M.;
Kalbfleisch, T. S.;
Pollak, E. J.

Publication type:

Article

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family.

Published in:

Cerebellum, 2018, v. 17, n. 3, p. 294, doi. 10.1007/s12311-017-0896-z

By:

Wang, Li;
Hao, Ying;
Yu, Peng;
Cao, Zhenhua;
Zhang, Jin;
Zhang, Xin;
Chen, Yuanyuan;
Zhang, Hao;
Gu, Weihong

Publication type:

Article

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

Published in:

Cerebellum, 2017, v. 16, n. 1, p. 272, doi. 10.1007/s12311-016-0784-y

By:

Tzoulis, C.;
Sztromwasser, Paweł;
Johansson, Stefan;
Gjerde, Ivar;
Knappskog, Per;
Bindoff, L.

Publication type:

Article

A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.

Published in:

Cerebellum, 2017, v. 16, n. 1, p. 268, doi. 10.1007/s12311-016-0786-9

By:

Lindquist, Suzanne;
Møller, Lisbeth;
Dali, Christine;
Marner, Lisbeth;
Kamsteeg, Erik-Jan;
Nielsen, Jørgen;
Hjermind, Lena

Publication type:

Article

GRIN3B missense mutation as an inherited risk factor for schizophrenia: whole-exome sequencing in a family with a familiar history of psychotic disorders.

Published in:

Genetics Research, 2017, v. 99, p. N.PAG, doi. 10.1017/S0016672316000148

By:

HORNIG, TOBIAS;
GRÜNING, BJÖRN;
KUNDU, KOUSIK;
HOUWAART, TORSTEN;
BACKOFEN, ROLF;
BIBER, KNUT;
NORMANN, CLAUS

Publication type:

Article

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

Published in:

2021

By:

Ghieh, Farah;
Barbotin, Anne-Laure;
Leroy, Clara;
Marcelli, François;
Swierkowsky-Blanchard, Nelly;
Serazin, Valérie;
Mandon-Pepin, Béatrice;
Vialard, François

Publication type:

Editorial

Halvade somatic: Somatic variant calling with Apache Spark.

Published in:

GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giab094

By:

Decap, Dries;
de Schaetzen van Brienen, Louise;
Larmuseau, Maarten;
Costanza, Pascal;
Herzeel, Charlotte;
Wuyts, Roel;
Marchal, Kathleen;
Fostier, Jan

Publication type:

Article

NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data.

Published in:

GigaScience, 2021, v. 10, n. 7, p. 1, doi. 10.1093/gigascience/giab046

By:

Linderman, Michael D;
Paudyal, Crystal;
Shakeel, Musab;
Kelley, William;
Bashir, Ali;
Gelb, Bruce D

Publication type:

Article

CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data.

Published in:

GigaScience, 2020, v. 9, n. 11, p. 1, doi. 10.1093/gigascience/giaa118

By:

Sandmann, Sarah;
Wöste, Marius;
de Graaf, Aniek O;
Burkhardt, Birgit;
Jansen, Joop H;
Dugas, Martin

Publication type:

Article

Single-cell RNA-seq reveals dynamic transcriptome profiling in human early neural differentiation.

Published in:

GigaScience, 2018, v. 7, n. 11, p. N.PAG, doi. 10.1093/gigascience/giy117

By:

Shang, Zhouchun;
Chen, Dongsheng;
Wang, Quanlei;
Wang, Shengpeng;
Deng, Qiuting;
Wu, Liang;
Liu, Chuanyu;
Ding, Xiangning;
Wang, Shiyou;
Zhong, Jixing

Publication type:

Article

VaDiR: an integrated approach to Variant Detection in RNA.

Published in:

GigaScience, 2018, v. 7, n. 2, p. 1, doi. 10.1093/gigascience/gix122

By:

Neums, Lisa;
Seiji Suenaga;
Beyerlein, Peter;
Anders, Sara;
Koestler, Devin;
Mariani, Andrea;
Chien, Jeremy

Publication type:

Article

Whole‐genome sequencing of alpaca revealed variants in KIT gene potentially associated with the white coat phenotype.

Published in:

Animal Genetics, 2023, v. 54, n. 6, p. 816, doi. 10.1111/age.13366

By:

Pallotti, Stefano;
Antonini, Marco;
Napolioni, Valerio;
Renieri, Carlo

Publication type:

Article

STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia.

Published in:

Animal Genetics, 2023, v. 54, n. 3, p. 412, doi. 10.1111/age.13306

By:

Christen, Matthias;
Ludwig‐Peisker, Odette;
Jagannathan, Vidhya;
Hetzel, Udo;
Schönball, Ulrike;
Leeb, Tosso

Publication type:

Article

Assessment of copy number variants in three Brazilian locally adapted cattle breeds using whole‐genome re‐sequencing data.

Published in:

Animal Genetics, 2023, v. 54, n. 3, p. 254, doi. 10.1111/age.13298

By:

Peripolli, Elisa;
Stafuzza, Nedenia Bonvino;
Machado, Marco Antonio;
do Carmo Panetto, João Cláudio;
do Egito, Andréa Alves;
Baldi, Fernando;
da Silva, Marcos Vinícius Gualberto Barbosa

Publication type:

Article

Identification of a missense variant in the porcine AGPAT gene family associated with intramuscular fat content through whole‐genome sequencing.

Published in:

Animal Genetics, 2022, v. 53, n. 6, p. 782, doi. 10.1111/age.13258

By:

Molinero, Eduard;
Pena, Ramona N.;
Estany, Joan;
Ros‐Freixedes, Roger

Publication type:

Article

A genetic investigation of equine recurrent uveitis in the Icelandic horse breed.

Published in:

Animal Genetics, 2022, v. 53, n. 3, p. 436, doi. 10.1111/age.13200

By:

Hack, Yael;
Henriksen, Michala de Linde;
Pihl, Tina Holberg;
Nielsen, Rikke Krarup;
Dwyer, Ann E.;
Bellone, Rebecca R.

Publication type:

Article

Targeted sequencing reveals candidate causal variants for dairy bull subfertility.

Published in:

Animal Genetics, 2021, v. 52, n. 4, p. 509, doi. 10.1111/age.13089

By:

Abdollahi‐Arpanahi, R.;
Pacheco, H. A.;
Peñagaricano, F.

Publication type:

Article

The previously reported LRP4 c.4940C>T variant is not associated with syndactyly in cattle.

Published in:

Animal Genetics, 2021, v. 52, n. 3, p. 380, doi. 10.1111/age.13061

By:

Eager, Katie L.M.;
Cauchi, Monique;
Willet, Cali E.;
Häfliger, Irene M.;
Drögemüller, Cord;
O'Rourke, Brendon A.;
Tammen, Imke

Publication type:

Article

Exome analysis and functional classification of identified variants in racing Quarter Horses.

Published in:

Animal Genetics, 2020, v. 51, n. 5, p. 716, doi. 10.1111/age.12976

By:

Curi, R. A.;
Pereira, G. L.;
Alvarez, M. V. N.;
Baldassini, W. A.;
Machado Neto, O. R.;
Chardulo, L. A. L.

Publication type:

Article

Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome.

Published in:

Animal Genetics, 2020, v. 51, n. 3, p. 382, doi. 10.1111/age.12923

By:

Häfliger, I. M.;
Wiedemar, N.;
Švara, T.;
Starič, J.;
Cociancich, V.;
Šest, K.;
Gombač, M.;
Paller, T.;
Agerholm, J. S.;
Drögemüller, C.

Publication type:

Article

Toward the most ideal case–control design with related and unrelated dogs in whole-exome sequencing studies.

Published in:

Animal Genetics, 2016, v. 47, n. 2, p. 200, doi. 10.1111/age.12400

By:

Broeckx, B.J.G.;
Coopman, F.;
Verhoeven, G.E.C.;
De Keulenaer, S.;
De Meester, E.;
Bavegems, V.;
Smets, P.;
Van Ryssen, B.;
Van Nieuwerburgh, F.;
Deforce, D.

Publication type:

Article

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Published in:

Frontiers in Oncology, 2019, p. N.PAG, doi. 10.3389/fonc.2019.00123

By:

Wang, Yao;
Yu, Mei;
Yang, Jia-Xin;
Cao, Dong-Yan;
Zhang, Ying;
Zhou, Hui-Mei;
Yuan, Zhen;
Shen, Keng

Publication type:

Article

Translating Human Cancer Sequences Into Personalized Porcine Cancer Models.

Published in:

Frontiers in Oncology, 2019, p. N.PAG, doi. 10.3389/fonc.2019.00105

By:

Xu, Chunlong;
Wu, Sen;
Schook, Lawrence B.;
Schachtschneider, Kyle M.

Publication type:

Article

Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.641925

By:

Fareed, Mohd;
Sharma, Varun;
Singh, Inderpal;
Rehman, Sayeed Ur;
Singh, Gurdarshan;
Afzal, Mohammad

Publication type:

Article

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.599863

By:

Tang, Hui;
Zhang, Qin;
Xiang, Jingjing;
Yin, Linliang;
Wang, Jing;
Wang, Ting

Publication type:

Article

Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.639418

By:

Read, Robert W.;
Schlauch, Karen A.;
Lombardi, Vincent C.;
Cirulli, Elizabeth T.;
Washington, Nicole L.;
Lu, James T.;
Grzymski, Joseph J.

Publication type:

Article

Identification of High-Confidence Structural Variants in Domesticated Rainbow Trout Using Whole-Genome Sequencing.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.639355

By:

Liu, Sixin;
Gao, Guangtu;
Layer, Ryan M.;
Thorgaard, Gary H.;
Wiens, Gregory D.;
Leeds, Timothy D.;
Martin, Kyle E.;
Palti, Yniv

Publication type:

Article

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.619948

By:

Zhang, Jing;
Hu, Huaying;
Mu, Weihong;
Yu, Mei;
Chen, Wenqi;
Mi, Dongqing;
Yang, Kai;
Guo, Qing

Publication type:

Article

Analysis of Structural Variants Reveal Novel Selective Regions in the Genome of Meishan Pigs by Whole Genome Sequencing.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.550676

By:

Du, Heng;
Zheng, Xianrui;
Zhao, Qiqi;
Hu, Zhengzheng;
Wang, Haifei;
Zhou, Lei;
Liu, Jian-Feng

Publication type:

Article

Case Report: Novel RPGRIP1L Gene Mutations Identified by Whole Exome Sequencing in a Patient With Multiple Primary Tumors.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.620472

By:

Guo, Jiani;
Yang, Yu;
Ji, Zhuqing;
Yao, Mengchu;
Xia, Xiaotian;
Sha, Xiaofeng;
Huang, Mingde

Publication type:

Article

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.608196

By:

Liu, Jiao;
Zhang, Xingyu;
Wang, Weilan;
Lan, Xiaofang;
Dong, Minyue;
Yan, Kai;
Lei, Yongliang;
Chen, Penglong;
Yang, Mufeng;
Shan, Qunda;
Jin, Chunlei

Publication type:

Article

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.601566

By:

Eghbali, Maryam;
Fatemi, Kiyana Sadat;
Salehpour, Shadab;
Abiri, Maryam;
Saei, Hassan;
Talebi, Saeed;
Olyaei, Nasrin Alipour;
Yassaee, Vahid Reza;
Modarressi, Mohammad Hossein

Publication type:

Article

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.614908

By:

Snezhkina, Anastasiya V.;
Fedorova, Maria S.;
Pavlov, Vladislav S.;
Kalinin, Dmitry V.;
Golovyuk, Alexander L.;
Pudova, Elena A.;
Guvatova, Zulfiya G.;
Melnikova, Nataliya V.;
Dmitriev, Alexey A.;
Razmakhaev, George S.;
Poloznikov, Andrey A.;
Alekseeva, Galina S.;
Kaprin, Andrey D.;
Krasnov, George S.;
Kudryavtseva, Anna V.

Publication type:

Article

Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.590486

By:

Fabišíková, Katarína;
Hamidová, Olívia;
Behulová, Regína Lohajová;
Závodná, Katarína;
Priščáková, Petra;
Repiská, Vanda

Publication type:

Article

Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.592588

By:

De Cario, Rosina;
Kura, Ada;
Suraci, Samuele;
Magi, Alberto;
Volta, Andrea;
Marcucci, Rossella;
Gori, Anna Maria;
Pepe, Guglielmina;
Giusti, Betti;
Sticchi, Elena

Publication type:

Article