Works matching IS 20567944 AND DT 2018 AND VI 3 AND IP 1

Results: 36

FDA guidance for next generation sequencing-based testing: balancing regulation and innovation in precision medicine.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0067-2

By:

Luh, Frank;
Yen, Yun

Publication type:

Article

Complex genetics of female fertility.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0068-1

By:

Gajbhiye, Rahul;
Fung, Jenny N.;
Montgomery, Grant W.

Publication type:

Article

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0074-3

By:

AlHarbi, Musa;
Mubarak, Nahla;
AlMubarak, Latifa;
Aljelaify, Rasha;
AlSaeed, Mariam;
Almutairi, Amal;
AlJabarat, Weal;
Alqubaishi, Fatimah;
Al-Subaie, Lamia;
AlTassan, Nada;
Neben, Cynthia L.;
Zhou, Alicia Y.;
Abedalthagafi, Malak

Publication type:

Article

Gene panel testing for breast cancer should not be used to confirm syndromic gene associations.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0071-6

By:

Evans, D. Gareth;
Howell, Sacha J.;
Frayling, Ian M.;
Peltonen, Juha

Publication type:

Article

User considerations in assessing pharmacogenomic tests and their clinical support tools.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0065-4

By:

Mukerjee, Gouri;
Huston, Andrea;
Kabakchiev, Boyko;
Piquette-Miller, Micheline;
van Schaik, Ron;
Dorfman, Ruslan

Publication type:

Article

New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0069-0

By:

Sanchez, Cynthia;
Snyder, Matthew W.;
Tanos, Rita;
Shendure, Jay;
Thierry, Alain R.

Publication type:

Article

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0073-4

By:

Corbett, Mark A.;
van Eyk, Clare L.;
Webber, Dani L.;
Bent, Stephen J.;
Newman, Morgan;
Harper, Kelly;
Berry, Jesia G.;
Azmanov, Dimitar N.;
Woodward, Karen J.;
Gardner, Alison E.;
Slee, Jennie;
Pérez-Jurado, Luís A.;
MacLennan, Alastair H.;
Gecz, Jozef

Publication type:

Article

TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0072-5

By:

Teder, Hindrek;
Koel, Mariann;
Paluoja, Priit;
Jatsenko, Tatjana;
Rekker, Kadri;
Laisk-Podar, Triin;
Kukuškina, Viktorija;
Velthut-Meikas, Agne;
Fjodorova, Olga;
Peters, Maire;
Kere, Juha;
Salumets, Andres;
Palta, Priit;
Krjutškov, Kaarel

Publication type:

Article

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0066-3

By:

Hoang, Ny;
Buchanan, Janet A.;
Scherer, Stephen W.

Publication type:

Article

Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0070-7

By:

Chan, Sock Hoai;
Chew, Winston;
Ishak, Nur Diana Binte;
Lim, Weng Khong;
Li, Shao-Tzu;
Tan, Sheng Hui;
Teo, Jing Xian;
Shaw, Tarryn;
Chang, Kenneth;
Chen, Yong;
Iyer, Prasad;
Tan, Enrica Ee Kar;
Seng, Michaela Su-Fern;
Chan, Mei Yoke;
Tan, Ah Moy;
Low, Sharon Yin Yee;
Soh, Shui Yen;
Loh, Amos Hong Pheng;
Ngeow, Joanne

Publication type:

Article

HHV-6 encoded small non-coding RNAs define an intermediate and early stage in viral reactivation.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0064-5

By:

Prusty, Bhupesh K.;
Gulve, Nitish;
Chowdhury, Suvagata Roy;
Schuster, Michael;
Strempel, Sebastian;
Descamps, Vincent;
Rudel, Thomas

Publication type:

Article

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0063-6

By:

Ovadia, Adi;
Sharfe, Nigel;
Hawkins, Cynthia;
Laughlin, Suzanne;
Roifman, Chaim M.

Publication type:

Article

Chemical genetic-based phenotypic screen reveals novel regulators of gluconeogenesis in human primary hepatocytes.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0062-7

By:

Zou, Haixia;
Liu, Qian;
Meng, Li;
Zhou, Jingye;
Da, Chenxiao;
Wu, Xikun;
Jiang, Lichun;
Shou, Jianyong;
Hua, Haiqing

Publication type:

Article

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0061-8

By:

Ostrander, Betsy E. P.;
Butterfield, Russell J.;
Pedersen, Brent S.;
Farrell, Andrew J.;
Layer, Ryan M.;
Ward, Alistair;
Miller, Chase;
DiSera, Tonya;
Filloux, Francis M.;
Candee, Meghan S.;
Newcomb, Tara;
Bonkowsky, Joshua L.;
Marth, Gabor T.;
Quinlan, Aaron R.

Publication type:

Article

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0060-9

By:

Haghighi, Alireza;
Krier, Joel B.;
Toth-Petroczy, Agnes;
Cassa, Christopher A.;
Frank, Natasha Y.;
Carmichael, Nikkola;
Fieg, Elizabeth;
Bjonnes, Andrew;
Mohanty, Anwoy;
Briere, Lauren C.;
Lincoln, Sharyn;
Lucia, Stephanie;
Gupta, Vandana A.;
Söylemez, Onuralp;
Sutti, Sheila;
Kooshesh, Kameron;
Qiu, Haiyan;
Fay, Christopher J.;
Perroni, Victoria;
Valerius, Jamie

Publication type:

Article

1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0059-2

By:

Xavier, Jean;
Zhou, Bo;
Bilan, Frédéric;
Zhang, Xianglong;
Gilbert-Dussardier, Brigitte;
Viaux-Savelon, Sylvie;
Pattni, Reenal;
Ho, Steve S.;
Cohen, David;
Levinson, Douglas F.;
Urban, Alexander E.;
Laurent-Levinson, Claudine

Publication type:

Article

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0058-3

By:

Lawrence, Ben;
Blenkiron, Cherie;
Parker, Kate;
Tsai, Peter;
Fitzgerald, Sandra;
Shields, Paula;
Robb, Tamsin;
Yeong, Mee Ling;
Kramer, Nicole;
James, Sarah;
Black, Mik;
Fan, Vicky;
Poonawala, Nooriyah;
Yap, Patrick;
Coats, Esther;
Woodhouse, Braden;
Ramsaroop, Reena;
Yozu, Masato;
Robinson, Bridget;
Henare, Kimiora

Publication type:

Article

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0057-4

By:

Woolley, J. Patrick;
Kirby, Emily;
Leslie, Josh;
Jeanson, Francis;
Cabili, Moran N.;
Rushton, Gregory;
Hazard, James G.;
Ladas, Vagelis;
Veal, Colin D.;
Gibson, Spencer J.;
Tassé, Anne-Marie;
Dyke, Stephanie O. M.;
Gaff, Clara;
Thorogood, Adrian;
Knoppers, Bartha Maria;
Wilbanks, John;
Brookes, Anthony J.

Publication type:

Article

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0056-5

By:

Mak, Christopher CY;
Leung, Gordon KC;
Mok, Gary TK;
Yeung, Kit San;
Yang, Wanling;
Fung, Cheuk-Wing;
Chan, Sophelia HS;
Lee, So-Lun;
Lee, Ni-Chung;
Pfundt, Rolph;
Lau, Yu-Lung;
Chung, Brian HY

Publication type:

Article

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4

By:

Farnaes, Lauge;
Hildreth, Amber;
Sweeney, Nathaly M.;
Clark, Michelle M.;
Chowdhury, Shimul;
Nahas, Shareef;
Cakici, Julie A.;
Benson, Wendy;
Kaplan, Robert H.;
Kronick, Richard;
Bainbridge, Matthew N.;
Friedman, Jennifer;
Gold, Jeffrey J.;
Ding, Yan;
Veeraraghavan, Narayanan;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Article

Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0055-6

By:

Torres-Ayuso, Pedro;
Sahoo, Sudhakar;
Ashton, Garry;
An, Elvira;
Simms, Nicole;
Galvin, Melanie;
Leong, Hui Sun;
Frese, Kristopher K;
Simpson, Kathryn;
Cook, Natalie;
Hughes, Andrew;
Miller, Crispin J;
Marais, Richard;
Dive, Caroline;
Krebs, Matthew G;
Brognard, John

Publication type:

Article

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0053-8

By:

Clark, Michelle M.;
Stark, Zornitza;
Farnaes, Lauge;
Tan, Tiong Y.;
White, Susan M.;
Dimmock, David;
Kingsmore, Stephen F.

Publication type:

Article

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0052-9

By:

Oates, Stephanie;
Tang, Shan;
Rosch, Richard;
Lear, Rosalie;
Hughes, Elaine F.;
Williams, Ruth E.;
Larsen, Line H. G.;
Hao, Qin;
Dahl, Hans Atli;
Møller, Rikke S.;
Pal, Deb K.

Publication type:

Article

Mutation load estimation model as a predictor of the response to cancer immunotherapy.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0051-x

By:

Lyu, Guan-Yi;
Yeh, Yu-Hsuan;
Yeh, Yi-Chen;
Wang, Yu-Chao

Publication type:

Article

Predictors of next-generation sequencing panel selection using a shared decision-making approach.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0050-y

By:

Courtney, Eliza;
Li, Shao-Tzu;
Shaw, Tarryn;
Chen, Yanni;
Allen, John Carson;
Ngeow, Joanne

Publication type:

Article

Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0054-7

By:

Givechian, Kevin B.;
Wnuk, Kamil;
Garner, Chad;
Benz, Stephen;
Garban, Hermes;
Rabizadeh, Shahrooz;
Niazi, Kayvan;
Soon-Shiong, Patrick

Publication type:

Article

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0048-5

By:

Friedman, Daniel;
Kannan, Kasthuri;
Faustin, Arline;
Shroff, Seema;
Thomas, Cheddhi;
Heguy, Adriana;
Serrano, Jonathan;
Snuderl, Matija;
Devinsky, Orrin

Publication type:

Article

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0047-6

By:

Panjwani, Naim;
Xiao, Bowei;
Xu, Lizhen;
Gong, Jiafen;
Keenan, Katherine;
Lin, Fan;
He, Gengming;
Baskurt, Zeynep;
Kim, Sangook;
Zhang, Lin;
Esmaeili, Mohsen;
Blackman, Scott;
Scherer, Stephen W.;
Corvol, Harriet;
Drumm, Mitchell;
Knowles, Michael;
Cutting, Garry;
Rommens, Johanna M.;
Sun, Lei;
Strug, Lisa J.

Publication type:

Article

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0046-7

By:

Toland, Amanda Ewart;
Forman, Andrea;
Couch, Fergus J.;
Culver, Julie O.;
Eccles, Diana M.;
Foulkes, William D.;
Hogervorst, Frans B. L.;
Houdayer, Claude;
Levy-Lahad, Ephrat;
Monteiro, Alvaro N.;
Neuhausen, Susan L.;
Plon, Sharon E.;
Sharan, Shyam K.;
Spurdle, Amanda B.;
Szabo, Csilla;
Brody, Lawrence C.

Publication type:

Article

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0045-8

By:

Petrikin, Josh E.;
Cakici, Julie A.;
Clark, Michelle M.;
Willig, Laurel K.;
Sweeney, Nathaly M.;
Farrow, Emily G.;
Saunders, Carol J.;
Thiffault, Isabelle;
Miller, Neil A.;
Zellmer, Lee;
Herd, Suzanne M.;
Holmes, Anne M.;
Batalov, Serge;
Veeraraghavan, Narayanan;
Smith, Laurie D.;
Dimmock, David P.;
Leeder, J. Steven;
Kingsmore, Stephen F.

Publication type:

Article

A phenotype centric benchmark of variant prioritisation tools.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0044-9

By:

Anderson, Denise;
Lassmann, Timo

Publication type:

Article

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0042-3

By:

Reiner, Jennifer;
Pisani, Laura;
Qiao, Wanqiong;
Singh, Ram;
Yang, Yao;
Shi, Lisong;
Khan, Wahab A.;
Sebra, Robert;
Cohen, Ninette;
Babu, Arvind;
Edelmann, Lisa;
Jabs, Ethylin Wang;
Scott, Stuart A.

Publication type:

Article

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0041-4

By:

So, Austin P.;
Vilborg, Anna;
Bouhlal, Yosr;
Koehler, Ryan T.;
Grimes, Susan M.;
Pouliot, Yannick;
Mendoza, Daniel;
Ziegle, Janet;
Stein, Jason;
Goodsaid, Federico;
Lucero, Michael Y.;
De La Vega, Francisco M.;
Ji, Hanlee P.

Publication type:

Article

Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0040-5

By:

Hornshøj, Henrik;
Nielsen, Morten Muhlig;
Sinnott-Armstrong, Nicholas A.;
Świtnicki, Michał P.;
Juul, Malene;
Madsen, Tobias;
Sallari, Richard;
Kellis, Manolis;
Ørntoft, Torben;
Hobolth, Asger;
Pedersen, Jakob Skou

Publication type:

Article

A phenotype centric benchmark of variant prioritisation tools.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. 1, doi. 10.1038/s41525-018-0044-9

By:

Anderson, Denise;
Lassmann, Timo

Publication type:

Article

Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans.

Published in:

NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0043-x

By:

Gaye, Amadou;
Doumatey, Ayo P.;
Davis, Sharon K.;
Rotimi, Charles N.;
Gibbons, Gary H.

Publication type:

Article