Works matching IS 00166723 AND DT 2019 AND VI 101

Results: 14

The impact of artificial intelligence on the current and future practice of clinical cancer genomics.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/s0016672319000089

By:

Greatbatch, Olivia;
Garrett, Alice;
Snape, Katie

Publication type:

Article

Changing the mindset for precision medicine: from incentivized biobanking models to genomic data.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000077

By:

Tigard, Daniel

Publication type:

Article

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000065

By:

Cox, Allison J.;
Grady, Fillan;
Velez, Gabriel;
Mahajan, Vinit B.;
Ferguson, Polly J.;
Kitchen, Andrew;
Darbro, Benjamin W.;
Bassuk, Alexander G.

Publication type:

Article

Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000119

By:

Togneri, Fiona S.;
Kilby, Mark D.;
Young, Elizabeth;
Court, Samantha;
Williams, Denise;
Griffiths, Michael J.;
Allen, Stephanie K.

Publication type:

Article

Transmembrane emp24 domain proteins in development and disease.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000090

By:

Aber, Rachel;
Chan, Wesley;
Mugisha, Sevane;
Jerome-Majewska, Loydie A.

Publication type:

Article

A permutation method for detecting trend correlations in rare variant association studies.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000120

By:

Lifeng Liu;
Pengfei Wang;
Jingbo Meng;
Lili Chen;
Wensheng Zhu;
Weijun Ma

Publication type:

Article

Genomic data and the dividual self.

Published in:

Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000107

By:

McGonigle, Ian

Publication type:

Article

Global Science Meets Ethnic Diversity: Ian McGonigle interviews GenomeAsia100k Scientific Chairman Stephan Schuster–ADDENDUM.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000053

By:

McGonigle, Ian;
Schuster, Stephan C.

Publication type:

Article

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041

By:

Jaouadi, Hager;
Chehida, Amel Ben;
Kraoua, Lilia;
Etchevers, Heather C.;
Argiro, Laurent;
Kasdallah, Nadia;
Blibech, Sonia;
Delague, Valérie;
Lévy, Nicolas;
Tebib, Néji;
Mrad, Ridha;
Abdelhak, Sonia;
Benkhalifa, Rym;
Zaffran, Stéphane

Publication type:

Article

Letter from the New Editor in Chief.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000028

By:

Tischkowitz, Marc

Publication type:

Article

Abstracts of papers presented at the 29<sup>th</sup> Genetic Society's Mammalian Genetics and Development Workshop held at the UCL Great Ormond Street Institute of Child Health, University College London on Thursday 29<sup>th</sup> November 2018.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000016

By:

Greene, Nicholas D. E.;
Copp, Andrew J.;
Andoniadou, Cynthia L.;
Cannavo, Claudia;
Cleverley, K.;
Tosh, J. L.;
Noy, S.;
Lana-Elola, E.;
Tybulewicz, V.;
Fisher, E. M. C.;
Wiseman, F. K.;
Calderon, Lesly;
Weiss, Felix D;
Carroll, Thomas;
Irvine, Elaine E.;
Dharmalingam, Gopuraja;
Tossell, Kyoko;
De Paola, Vincenzo;
Whilding, Chad;
Ungless, Mark A.

Publication type:

Article

Genetics Research turns a new [open access] leaf.

Published in:

2019

By:

Moniz, Mónica B. J.;
Hutton, Fiona G.

Publication type:

Editorial

Global science meets ethnic diversity: Ian McGonigle interviews GenomeAsia100K Scientific Chairman Stephan Schuster.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231800006X

By:

McGonigle, Ian;
Schuster, Stephan C.

Publication type:

Article

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Published in:

Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S001667231900003X

By:

Mackay, Deborah J.G.;
Bliek, Jet;
Lombardi, Maria Paola;
Russo, Silvia;
Calzari, Luciano;
Guzzetti, Sara;
Izzi, Claudia;
Selicorni, Angelo;
Melis, Daniela;
Temple, Karen;
Maher, Eamonn;
Brioude, Frédéric;
Netchine, Irène;
Eggermann, Thomas

Publication type:

Article