Nature Search

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Andre E. Minoche
Claire Horvat
Diane Fatkin
Research02 Jul 2018
Genetics in Medicine

Volume: 21, P: 650-662
Identification of a mutation in the extracellular ___domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer

By modeling acquired resistance to the EGFR antibody cetuximab in metastatic colorectal cancer, the authors identify a new mutation in the ectodomain of the receptor. The mutation is present in patient tumors after cetuximab therapy, confirming that it represents a clinically-relevant mechanism for therapy resistance. Moreover, the mutation does not affect the response to other EGFR antibodies, suggesting that if independently confirmed it may be a useful indicator to tailor anti-EGFR therapy.

Clara Montagut
Alba Dalmases
Joan Albanell
Research22 Jan 2012
Nature Medicine

Volume: 18, P: 221-223
Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Alan Ma
Saira Yousoof
Robyn V. Jamieson
ResearchOpen Access05 Jun 2020
Genetics in Medicine

Volume: 22, P: 1623-1632
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

Amali C. Mallawaarachchi
Ben Lundie
Timothy J. Furlong
Research12 Jan 2021
European Journal of Human Genetics

Volume: 29, P: 760-770
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G. Riley
Mark J. Cowley
John Christodoulou
Research21 Apr 2020
Genetics in Medicine

Volume: 22, P: 1254-1261
The genome of the recently domesticated crop plant sugar beet (Beta vulgaris)

A full genome sequence is presented of sugar beet Beta vulgaris, the first plant belonging to Caryophyllales to have its genome sequenced; spinach was sequenced to enable inter-clade comparisons, and intraspecific variation was analysed by comparative genomics of a progenitor of all beet crops and additional sugar beet accessions.

Juliane C. Dohm
André E. Minoche
Heinz Himmelbauer
ResearchOpen Access18 Dec 2013
Nature

Volume: 505, P: 546-549
Architecture and evolution of a minute plant genome

The genome of the carnivorous bladderwort plant Utricularia gibba is described here; despite having undergone at least three rounds of whole-genome duplication, its genome is unusually small and virtually devoid of intergenic DNA.

Enrique Ibarra-Laclette
Eric Lyons
Luis Herrera-Estrella
ResearchOpen Access12 May 2013
Nature

Volume: 498, P: 94-98
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Lisa J. Ewans
Andre E. Minoche
Tony Roscioli
ResearchOpen Access15 Aug 2022
European Journal of Human Genetics

Volume: 30, P: 1121-1131
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Amali C Mallawaarachchi
Yvonne Hort
Timothy J Furlong
Research11 May 2016
European Journal of Human Genetics

Volume: 24, P: 1584-1590
Response to Brodehl et al.

Andre E. Minoche
Claire Horvat
Diane Fatkin
Correspondence28 Sept 2018
Genetics in Medicine

Volume: 21, P: 1248-1249

Search

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Identification of a mutation in the extracellular ___domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

The genome of the recently domesticated crop plant sugar beet (Beta vulgaris)

Architecture and evolution of a minute plant genome

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Response to Brodehl et al.

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