Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples

por Mahfuz, Istiak, Cheng, Wei, White, Stefan J
Publicado 2013

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication

por Cantsilieris, Stuart, Western, Patrick S, Baird, Paul N, White, Stefan J
Publicado 2014

Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study

por Cobb, Joanna E., White, Stefan J., Harrap, Stephen B., Ellis, Justine A.
Publicado 2009

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

por Ohnesorg, Thomas, Eggers, Stefanie, Leonhard, Wouter N, Sinclair, Andrew H, White, Stefan J
Publicado 2009

Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration

por Cantsilieris, Stuart, White, Stefan J., Richardson, Andrea J., Guymer, Robyn H., Baird, Paul N.
Publicado 2012

Breakpoint characterization of a rare alpha(0)‐thalassemia deletion using targeted locus amplification on genomic DNA

por Hottentot, Quint P., de Meijer, Emile, Buermans, Henk P. J., White, Stefan J., Harteveld, Cornelis L.
Publicado 2021

DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours

por de Boer, Carmela M, Eini, Ronak, Gillis, Ad M, Stoop, Hans, Looijenga, Leendert HJ, White, Stefan J
Publicado 2012

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

por Hersmus, Remko, Stoop, Hans, Turbitt, Erin, Oosterhuis, J Wolter, Drop, Stenvert LS, Sinclair, Andrew H, White, Stefan J, Looijenga, Leendert HJ
Publicado 2012

Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors

por Hersmus, Remko, Stoop, Hans, White, Stefan J., Drop, Stenvert L. S., Oosterhuis, J. Wolter, Incrocci, Luca, Wolffenbuttel, Katja P., Looijenga, Leendert H. J.
Publicado 2012

Loss of maternal EED results in postnatal overgrowth

por Prokopuk, Lexie, Stringer, Jessica M., White, Craig R., Vossen, Rolf H. A. M., White, Stefan J., Cohen, Ana S. A., Gibson, William T., Western, Patrick S.
Publicado 2018

Reduced PRC2 function alters male germline epigenetic programming and paternal inheritance

por Stringer, Jessica M., Forster, Samuel C., Qu, Zhipeng, Prokopuk, Lexie, O’Bryan, Moira K., Gardner, David K., White, Stefan J., Adelson, David, Western, Patrick S.
Publicado 2018

The identification of mitochondrial DNA variants in glioblastoma multiforme

por Yeung, Ka Yu, Dickinson, Adam, Donoghue, Jacqueline F, Polekhina, Galina, White, Stefan J, Grammatopoulos, Dimitris K, McKenzie, Matthew, Johns, Terrance G, John, Justin C St
Publicado 2014

Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing

por Buermans, Henk P.J., Vossen, Rolf H.A.M., Anvar, Seyed Yahya, Allard, William G., Guchelaar, Henk‐Jan, White, Stefan J., den Dunnen, Johan T., Swen, Jesse J., van der Straaten, Tahar
Publicado 2017

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

por Grassmann, Felix, Cantsilieris, Stuart, Schulz-Kuhnt, Anja-Sabrina, White, Stefan J., Richardson, Andrea J, Hewitt, Alex W, Vote, Brendan J., Schmied, Denise, Guymer, Robyn H, Weber, Bernhard H.F., Baird, Paul N.
Publicado 2016

Genetic Variation of the Fc Gamma Receptor 3B Gene and Association with Rheumatoid Arthritis

por Marques, Rute B., Thabet, Mohamed M., White, Stefan J., Houwing-Duistermaat, Jeanine J., Bakker, Aleida M., Hendriks, Gert-Jan, Zhernakova, Alexandra, Huizinga, Tom W., van der Helm-van Mil, Annette H., Toes, Rene E.
Publicado 2010

Seminoma and Embryonal Carcinoma Footprints Identified by Analysis of Integrated Genome-Wide Epigenetic and Expression Profiles of Germ Cell Cancer Cell Lines

por van der Zwan, Yvonne G., Rijlaarsdam, Martin A., Rossello, Fernando J., Notini, Amanda J., de Boer, Suzan, Watkins, D. Neil, Gillis, Ad J. M., Dorssers, Lambert C. J., White, Stefan J., Looijenga, Leendert H. J.
Publicado 2014

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

por Jones, Sarah A., Cantsilieris, Stuart, Fan, Huapeng, Cheng, Qiang, Russ, Brendan E., Tucker, Elena J., Harris, James, Rudloff, Ina, Nold, Marcel, Northcott, Melissa, Dankers, Wendy, Toh, Andrew E. J., White, Stefan J., Morand, Eric F.
Publicado 2019

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

por Hersmus, Remko, van der Zwan, Yvonne G., Stoop, Hans, Bernard, Pascal, Sreenivasan, Rajini, Oosterhuis, J. Wolter, Brüggenwirth, Hennie T., de Boer, Suzan, White, Stefan, Wolffenbuttel, Katja P., Alders, Marielle, McElreavy, Kenneth, Drop, Stenvert L. S., Harley, Vincent R., Looijenga, Leendert H. J.
Publicado 2012

Skewed X-inactivation is common in the general female population

por Shvetsova, Ekaterina, Sofronova, Alina, Monajemi, Ramin, Gagalova, Kristina, Draisma, Harmen H. M., White, Stefan J., Santen, Gijs W. E., Chuva de Sousa Lopes, Susana M., Heijmans, Bastiaan T., van Meurs, Joyce, Jansen, Rick, Franke, Lude, Kiełbasa, Szymon M., den Dunnen, Johan T., ‘t Hoen, Peter A. C.
Publicado 2018

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

por White, Stefan, Ohnesorg, Thomas, Notini, Amanda, Roeszler, Kelly, Hewitt, Jacqueline, Daggag, Hinda, Smith, Craig, Turbitt, Erin, Gustin, Sonja, van den Bergen, Jocelyn, Miles, Denise, Western, Patrick, Arboleda, Valerie, Schumacher, Valerie, Gordon, Lavinia, Bell, Katrina, Bengtsson, Henrik, Speed, Terry, Hutson, John, Warne, Garry, Harley, Vincent, Koopman, Peter, Vilain, Eric, Sinclair, Andrew
Publicado 2011