Publications:

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal Of Medical Genetics

Babbs, Christian C; Brown, Jill J; Horsley, Sharon W SW; Slater, Joanne J; Maifoshie, Evie E; Kumar, Shiwangini S; Ooijevaar, Paul P; Kriek, Marjolein M; Dixon-McIver, Amanda A; Harteveld, Cornelis L CL; Traeger-Synodinos, Jan J; Wilkie, Andrew O M AOM; Higgs, Douglas R DR; Buckle, Veronica J VJ

Publication Date: 2020-06

Variant appearance in text: rs2685127

PubMed Link: 32005695

Variant Present in the following documents:

• jmedgenet-2019-106528supp001.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2685127

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs2685127

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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Wnt signaling pathway pharmacogenetics in non-small cell lung cancer.

The Pharmacogenomics Journal

Stewart, D J DJ; Chang, D W DW; Ye, Y Y; Spitz, M M; Lu, C C; Shu, X X; Wampfler, J A JA; Marks, R S RS; Garces, Y I YI; Yang, P P; Wu, X X

Publication Date: 2014-12

Variant appearance in text: rs2685127

PubMed Link: 24980784

Variant Present in the following documents:

• Main text

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Haplotype association analysis of genes within the WNT signalling pathways in diabetic nephropathy.

Bmc Nephrology

Kavanagh, David H DH; Savage, David A DA; Patterson, Christopher C CC; McKnight, Amy Jayne AJ; Crean, John K JK; Maxwell, Alexander P AP; McKay, Gareth J GJ; ,

Publication Date: 2013-06-18

Variant appearance in text: rs2685127

PubMed Link: 23777469

Variant Present in the following documents:

• Main text
• 1471-2369-14-126.pdf

View BVdb publication page