Works matching IS 20567944 AND DT 2021 AND VI 6 AND IP 1

Results: 109

Molecular classification of blood and bleeding disorder genes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00228-2

By:

Baz, Batoul;
Abouelhoda, Mohamed;
Owaidah, Tarek;
Dasouki, Majed;
Monies, Dorota;
Al Tassan, Nada

Publication type:

Article

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00226-4

By:

Chang, Darwin;
Shain, A. Hunter

Publication type:

Article

Effective variant filtering and expected candidate variant yield in studies of rare human disease.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00227-3

By:

Pedersen, Brent S.;
Brown, Joe M.;
Dashnow, Harriet;
Wallace, Amelia D.;
Velinder, Matt;
Tristani-Firouzi, Martin;
Schiffman, Joshua D.;
Tvrdik, Tatiana;
Mao, Rong;
Best, D. Hunter;
Bayrak-Toydemir, Pinar;
Quinlan, Aaron R.

Publication type:

Article

Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00223-7

By:

Eide, Peter W.;
Moosavi, Seyed H.;
Eilertsen, Ina A.;
Brunsell, Tuva H.;
Langerud, Jonas;
Berg, Kaja C. G.;
Røsok, Bård I.;
Bjørnbeth, Bjørn A.;
Nesbakken, Arild;
Lothe, Ragnhild A.;
Sveen, Anita

Publication type:

Article

The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00221-9

By:

Alharbi, Abeer F.;
Parrington, John

Publication type:

Article

Pan-cancer characterization of lncRNA modifiers of immune microenvironment reveals clinically distinct de novo tumor subtypes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00215-7

By:

Zhang, Zicheng;
Yan, Congcong;
Li, Ke;
Bao, Siqi;
Li, Lei;
Chen, Lu;
Zhao, Jingting;
Sun, Jie;
Zhou, Meng

Publication type:

Article

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00220-w

By:

Schmidt, Axel;
Peters, Sophia;
Knaus, Alexej;
Sabir, Hemmen;
Hamsen, Frauke;
Maj, Carlo;
Fazaal, Julia;
Sivalingam, Sugirthan;
Savchenko, Oleksandr;
Mantri, Aakash;
Holzinger, Dirk;
Neudorf, Ulrich;
Müller, Andreas;
Ludwig, Kerstin U.;
Krawitz, Peter M.;
Engels, Hartmut;
Nöthen, Markus M.;
Bagci, Soyhan

Publication type:

Article

Genetic discrimination: introducing the Asian perspective to the debate.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00218-4

By:

Kim, Hannah;
Ho, Calvin W. L.;
Ho, Chih-Hsing;
Athira, P. S.;
Kato, Kazuto;
De Castro, Leonardo;
Kang, Hui;
Huxtable, Richard;
Zwart, Hub;
Ives, Jonathan;
Lee, Ilhak;
Joly, Yann;
Kim, So Yoon

Publication type:

Article

Author Correction: Genetic basis of hypercholesterolemia in adults.

Published in:

2021

By:

Saadatagah, Seyedmohammad;
Jose, Merin;
Dikilitas, Ozan;
Alhalabi, Lubna;
Miller, Alexandra A.;
Fan, Xiao;
Olson, Janet E.;
Kochan, David C.;
Safarova, Maya;
Kullo, Iftikhar J.

Publication type:

Correction Notice

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00214-8

By:

Sangermano, Riccardo;
Deitch, Iris;
Peter, Virginie G.;
Ba-Abbad, Rola;
Place, Emily M.;
Zampaglione, Erin;
Wagner, Naomi E.;
Fulton, Anne B.;
Coutinho-Santos, Luisa;
Rosin, Boris;
Dunet, Vincent;
AlTalbishi, Ala'a;
Banin, Eyal;
Sousa, Ana Berta;
Neves, Mariana;
Larson, Anna;
Quinodoz, Mathieu;
Michaelides, Michel;
Ben-Yosef, Tamar;
Pierce, Eric A.

Publication type:

Article

An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00219-3

By:

Wang, Zhigang;
Xu, Hongen;
Xiang, Tianchao;
Liu, Danhua;
Xu, Fei;
Zhao, Lixiang;
Feng, Yonghua;
Xu, Linan;
Liu, Jialu;
Fang, Ye;
Liu, Huanfei;
Li, Ruijun;
Hu, Xinxin;
Guan, Jingyuan;
Liu, Longshan;
Feng, Guiwen;
Shen, Qian;
Xu, Hong;
Frishman, Dmitrij;
Tang, Wenxue

Publication type:

Article

Dissecting the multi-omics atlas of the exosomes released by human lung adenocarcinoma stem-like cells.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00217-5

By:

Luo, Hai-Tao;
Zheng, Yuan-Yuan;
Tang, Jun;
Shao, Li-Juan;
Mao, Yi-Heng;
Yang, Wei;
Yang, Xiao-Fei;
Li, Yang;
Tian, Rui-Jun;
Li, Fu-Rong

Publication type:

Article

Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00216-6

By:

Yu, Hua;
Lu, Lu;
Chen, Ming;
Li, Chen;
Zhang, Jin

Publication type:

Article

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00210-y

By:

Ichikawa, Daisuke;
Yamashita, Kyoko;
Okuno, Yusuke;
Muramatsu, Hideki;
Murakami, Norihiro;
Suzuki, Kyogo;
Kojima, Daiei;
Kataoka, Shinsuke;
Hamada, Motoharu;
Taniguchi, Rieko;
Nishikawa, Eri;
Kawashima, Nozomu;
Narita, Atsushi;
Nishio, Nobuhiro;
Hama, Asahito;
Kasai, Kenji;
Mizuno, Seiji;
Shimoyama, Yoshie;
Nakaguro, Masato;
Okita, Hajime

Publication type:

Article

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00203-x

By:

Xiao, Qingyang;
Lauschke, Volker M.

Publication type:

Article

Transcriptome-(phospho)proteome characterization of brain of a germline model of cytoplasmic-predominant Pten expression with autism-like phenotypes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00201-z

By:

Thacker, Stetson;
Eng, Charis

Publication type:

Article

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00211-x

By:

Lacaze, Paul;
Sebra, Robert;
Riaz, Moeen;
Ingles, Jodie;
Tiller, Jane;
Thompson, Bryony A.;
James, Paul A.;
Fatkin, Diane;
Semsarian, Christopher;
Reid, Christopher M.;
Tonkin, Andrew M.;
Winship, Ingrid;
Schadt, Eric;
McNeil, John J.

Publication type:

Article

Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00212-w

By:

Shin, Sun;
Park, Yong Hyun;
Jung, Seung-Hyun;
Jang, Sun-Hee;
Kim, Mee Young;
Lee, Ji Youl;
Chung, Yeun–Jun

Publication type:

Article

A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00208-6

By:

Chen, Guanjie;
Adeyemo, Adebowale;
Zhou, Jie;
Doumatey, Ayo P.;
Bentley, Amy R.;
Ekoru, Kenneth;
Shriner, Daniel;
Rotimi, Charles N.

Publication type:

Article

Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00209-5

By:

Bhattacharjee, Esha;
Maitra, Arindam

Publication type:

Article

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00204-w

By:

Shakur, Rameen;
Ochoa, Juan Pablo;
Robinson, Alan J.;
Niroula, Abhishek;
Chandran, Aneesh;
Rahman, Taufiq;
Vihinen, Mauno;
Monserrat, Lorenzo

Publication type:

Article

Genome-wide DNA methylation analysis on C-reactive protein among Ghanaians suggests molecular links to the emerging risk of cardiovascular diseases.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00213-9

By:

Chilunga, Felix P.;
Henneman, Peter;
Venema, Andrea;
Meeks, Karlijn A. C.;
Requena-Méndez, Ana;
Beune, Erik;
Mockenhaupt, Frank P.;
Smeeth, Liam;
Bahendeka, Silver;
Danquah, Ina;
Klipstein-Grobusch, Kerstin;
Adeyemo, Adebowale;
Mannens, Marcel M.A.M;
Agyemang, Charles

Publication type:

Article

Radiosensitivity index emerges as a potential biomarker for combined radiotherapy and immunotherapy.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00200-0

By:

Dai, Yang-Hong;
Wang, Ying-Fu;
Shen, Po-Chien;
Lo, Cheng-Hsiang;
Yang, Jen-Fu;
Lin, Chun-Shu;
Chao, Hsing-Lung;
Huang, Wen-Yen

Publication type:

Article

Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00202-y

By:

Wang, Ben;
Mou, Hai;
Liu, Mengmeng;
Ran, Zhujie;
Li, Xin;
Li, Jie;
Ou, Yunsheng

Publication type:

Article

Telomere biology disorders.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00198-5

By:

Kam, Michelle L. W.;
Nguyen, Trang T. T.;
Ngeow, Joanne Y. Y.

Publication type:

Article

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

Published in:

2021

By:

Sweeney, Nathaly M.;
Nahas, Shareef A.;
Chowdhury, Shimul;
Batalov, Sergey;
Clark, Michelle;
Caylor, Sara;
Cakici, Julie;
Nigro, John J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Hobbs, Charlotte;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Correction Notice

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

Published in:

2021

By:

Sweeney, Nathaly M.;
Nahas, Shareef A.;
Chowdhury, Shimul;
Batalov, Sergey;
Clark, Michelle;
Caylor, Sara;
Cakici, Julie;
Nigro, John J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Hobbs, Charlotte;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Correction Notice

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00192-x

By:

Sweeney, Nathaly M.;
Nahas, Shareef A.;
Chowdhury, Sh.;
Batalov, Sergey;
Clark, Michelle;
Caylor, Sara;
Cakici, Julie;
Nigro, John J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Hobbs, Charlotte;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Article

Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00199-4

By:

Scott, Erika N.;
Wright, Galen E. B.;
Drögemöller, Britt I.;
Hasbullah, Jafar S.;
Gunaretnam, Erandika P.;
Miao, Fudan;
Bhavsar, Amit P.;
Shen, Fei;
Schneider, Bryan P.;
Carleton, Bruce C.;
Ross, Colin J. D.

Publication type:

Article

The landscape and driver potential of site-specific hotspots across cancer genomes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00197-6

By:

Juul, Randi Istrup;
Nielsen, Morten Muhlig;
Juul, Malene;
Feuerbach, Lars;
Pedersen, Jakob Skou

Publication type:

Article

Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00195-8

By:

Das, Debodipta;
Maitra, Arindam;
Panda, Chinmay K.;
Ghose, Sandip;
Roy, Bidyut;
Sarin, Rajiv;
Majumder, Partha P.

Publication type:

Article

Ethically utilising COVID-19 host-genomic data.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00194-9

By:

Gyngell, Christopher;
Christodoulou, John;
Savulescu, Julian

Publication type:

Article

Prognostic relevance of the hexosamine biosynthesis pathway activation in leiomyosarcoma.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00193-w

By:

Tolwani, Angela;
Matusiak, Magdalena;
Bui, Nam;
Forgó, Erna;
Varma, Sushama;
Baratto, Lucia;
Iagaru, Andrei;
Lazar, Alexander J.;
van de Rijn, Matt;
Przybyl, Joanna

Publication type:

Article

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00196-7

By:

Scott, Ori;
Lindsay, Kyle;
Erwood, Steven;
Mollica, Antonio;
Roifman, Chaim M.;
Cohn, Ronald D.;
Ivakine, Evgueni A.

Publication type:

Article

Genetic basis of hypercholesterolemia in adults.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00190-z

By:

Saadatagah, Seyedmohammad;
Jose, Merin;
Dikilitas, Ozan;
Alhabi, Lubna;
Miller, Alexandra A.;
Fan, Xiao;
Olson, Janet E.;
Kochan, David C.;
Safarova, Maya;
Kullo, Iftikhar J.

Publication type:

Article

Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00189-6

By:

Yuan, Shuai;
Giovannucci, Edward L.;
Larsson, Susanna C.

Publication type:

Article

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00184-x

By:

Tanudisastro, Hope A.;
Holman, Katherine;
Ho, Gladys;
Farnsworth, Elizabeth;
Fisk, Katrina;
Gayagay, Thet;
Hackett, Emma;
Jenkins, Gemma;
Krishnaraj, Rahul;
Lai, Tiffany;
Wong, Karen;
Patel, Chirag;
Mallawaarachchi, Amali;
Mallett, Andrew J.;
Bennetts, Bruce;
Alexander, Stephen I.;
McCarthy, Hugh J.

Publication type:

Article

Author Correction: Please give me a copy of my child's raw genomic data.

Published in:

2021

By:

Chad, Lauren;
Szego, Michael J.

Publication type:

Correction Notice

Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progression.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00185-w

By:

Mwesigwa, Savannah;
Williams, Lesedi;
Retshabile, Gaone;
Katagirya, Eric;
Mboowa, Gerald;
Mlotshwa, Busisiwe;
Kyobe, Samuel;
Kateete, David P.;
Wampande, Eddie Mujjwiga;
Wayengera, Misaki;
Mpoloka, Sununguko Wata;
Mirembe, Angella N.;
Kasvosve, Ishmael;
Morapedi, Koketso;
Kisitu, Grace P.;
Kekitiinwa, Adeodata R.;
Anabwani, Gabriel;
Joloba, Moses L.;
Matovu, Enock;
Mulindwa, Julius

Publication type:

Article

Non-secretory multiple myeloma with unusual TFG-ALK fusion showed dramatic response to ALK inhibition.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00186-9

By:

Masood, Ashiq;
Christ, Trevor;
Asif, Samia;
Rajakumar, Priya;
Gustafson, Beth A.;
Shune, Leyla O.;
Salahudeen, Ameen;
Nedvad, Drew;
Nanua, Suparna;
Paner, Agne;
Kuzel, Timothy M.;
Levy, Mia;
Subramanian, Janakiraman;
Raza, Shahzad

Publication type:

Article

Will better evidence on clinical utility bring about greater use of (genetic) tests?

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00187-8

By:

Hyde, Chris

Publication type:

Article

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00188-7

By:

Martinez-Granero, Francisco;
Blanco-Kelly, Fiona;
Sanchez-Jimeno, Carolina;
Avila-Fernandez, Almudena;
Arteche, Ana;
Bustamante-Aragones, Ana;
Rodilla, Cristina;
Rodríguez-Pinilla, Elvira;
Riveiro-Alvarez, Rosa;
Tahsin-Swafiri, Saoud;
Trujillo-Tiebas, Maria Jose;
Ayuso, Carmen;
Rodríguez de Alba, Marta;
Lorda-Sanchez, Isabel;
Almoguera, Berta

Publication type:

Article

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00183-y

By:

Torrado, Mario;
Fernández, Germán;
Ganoza, Christian A.;
Maneiro, Emilia;
García, Diego;
Sonicheva-Paterson, Natalia;
Rosa, Isaac;
Ochoa, Juan Pablo;
Santomé, Luis;
Vasichkina, Elena;
Monserrat, Lorenzo

Publication type:

Article

Rare versus common diseases: a false dichotomy in precision medicine.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00176-x

By:

Chung, Brian Hon Yin;
Chau, Jeffrey Fong Ting;
Wong, Gane Ka-Shu

Publication type:

Article

Alterations of 5-hydroxymethylation in circulating cell-free DNA reflect molecular distinctions of subtypes of non-Hodgkin lymphoma.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00179-8

By:

Chiu, Brian C.-H.;
Chen, Chang;
You, Qiancheng;
Chiu, Rudyard;
Venkataraman, Girish;
Zeng, Chang;
Zhang, Zhou;
Cui, Xiaolong;
Smith, Sonali M.;
He, Chuan;
Zhang, Wei

Publication type:

Article

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00178-9

By:

Wei, Chun-Yu;
Yang, Jenn-Hwai;
Yeh, Erh-Chan;
Tsai, Ming-Fang;
Kao, Hsiao-Jung;
Lo, Chen-Zen;
Chang, Lung-Pao;
Lin, Wan-Jia;
Hsieh, Feng-Jen;
Belsare, Saurabh;
Bhaskar, Anand;
Su, Ming-Wei;
Lee, Te-Chang;
Lin, Yi-Ling;
Liu, Fu-Tong;
Shen, Chen-Yang;
Li, Ling-Hui;
Chen, Chien-Hsiun;
Wall, Jeffrey D.;
Wu, Jer-Yuarn

Publication type:

Article

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00182-z

By:

Iancu, Ionut-Florin;
Avila-Fernandez, Almudena;
Arteche, Ana;
Trujillo-Tiebas, Maria Jose;
Riveiro-Alvarez, Rosa;
Almoguera, Berta;
Martin-Merida, Inmaculada;
Del Pozo-Valero, Marta;
Perea-Romero, Irene;
Corton, Marta;
Minguez, Pablo;
Ayuso, Carmen

Publication type:

Article

Please give me a copy of my child's raw genomic data.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00175-y

By:

Chad, Lauren;
Szego, Michael J.

Publication type:

Article

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00173-0

By:

Akter, Hosneara;
Hossain, Mohammad Shahnoor;
Dity, Nushrat Jahan;
Rahaman, Md. Atikur;
Furkan Uddin, K. M.;
Nassir, Nasna;
Begum, Ghausia;
Hameid, Reem Abdel;
Islam, Muhammad Sougatul;
Tusty, Tahrima Arman;
Basiruzzaman, Mohammad;
Sarkar, Shaoli;
Islam, Mazharul;
Jahan, Sharmin;
Lim, Elaine T.;
Woodbury-Smith, Marc;
Stavropoulos, Dimitri James;
O'Rielly, Darren D.;
Berdeiv, Bakhrom K.;
Nurun Nabi, A. H. M.

Publication type:

Article

HERVs establish a distinct molecular subtype in stage II/III colorectal cancer with poor outcome.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00177-w

By:

Golkaram, Mahdi;
Salmans, Michael L.;
Kaplan, Shannon;
Vijayaraghavan, Raakhee;
Martins, Marta;
Khan, Nafeesa;
Garbutt, Cassandra;
Wise, Aaron;
Yao, Joyee;
Casimiro, Sandra;
Abreu, Catarina;
Macedo, Daniela;
Costa, Ana Lúcia;
Alvim, Cecília;
Mansinho, André;
Filipe, Pedro;
Marques da Costa, Pedro;
Fernandes, Afonso;
Borralho, Paula;
Ferreira, Cristina

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Article