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Hyper-IgM and acquired C1q complement deficiency in a patient with de novo ATM mutation.
Published in:
Oxford Medical Case Reports, 2023, v. 2023, n. 2, p. 1, doi. 10.1093/omcr/omad005
By:
- Lee, Adrian Y S;
- Dai, Pei;
- Burnett, Leslie;
- Wei, Xiumei;
- Kakar, Fakhria;
- Ohnesorg, Thomas;
- Lin, Ming-Wei
Publication type:
Article
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00841-x
By:
- Minoche, Andre E.;
- Lundie, Ben;
- Peters, Greg B.;
- Ohnesorg, Thomas;
- Pinese, Mark;
- Thomas, David M.;
- Zankl, Andreas;
- Roscioli, Tony;
- Schonrock, Nicole;
- Kummerfeld, Sarah;
- Burnett, Leslie;
- Dinger, Marcel E.;
- Cowley, Mark J.
Publication type:
Article
Development of Retroviral Vectors for Tissue-Restricted Expression in Chicken Embryonic Gonads.
Published in:
PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101811
By:
- Lambeth, Luke S.;
- Ohnesorg, Thomas;
- Cummins, David M.;
- Sinclair, Andrew H.;
- Smith, Craig A.
Publication type:
Article
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis.
Published in:
PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017793
By:
- 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
Publication type:
Article
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
2019
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacqueline;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Correction Notice
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07784-9
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Hewitt, Jacky;
- Bowles, Josephine;
- Quinn, Alexander;
- Tan, Jacqueline;
- Corbin, Vincent;
- Pelosi, Emanuele;
- van den Bergen, Jocelyn;
- Sreenivasan, Rajini;
- Knarston, Ingrid;
- Robevska, Gorjana;
- Vu, Dung Chi;
- Hutson, John;
- Harley, Vincent;
- Ayers, Katie;
- Koopman, Peter;
- Sinclair, Andrew
Publication type:
Article
The Role of Copy Number Variants in Disorders of Sex Development.
Published in:
Sexual Development, 2018, v. 12, n. 1-3, p. 19, doi. 10.1159/000481896
By:
- Croft, Brittany;
- Ohnesorg, Thomas;
- Sinclair, Andrew H.
Publication type:
Article
Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development.
Published in:
Sexual Development, 2016, v. 10, n. 2, p. 59, doi. 10.1159/000445398
By:
- Ohnesorg, Thomas;
- Croft, Brittany;
- Tan, Jacqueline;
- Sinclair, andrew H.
Publication type:
Article
The Genetics of Disorders of Sex Development in Humans.
Published in:
Sexual Development, 2014, v. 8, n. 5, p. 262, doi. 10.1159/000357956
By:
- Ohnesorg, Thomas;
- Vilain, Eric;
- Sinclair, andrew H.
Publication type:
Article
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach.
Published in:
BMC Genomics, 2009, v. 10, p. 412, doi. 10.1186/1471-2164-10-412
By:
- Ohnesorg, Thomas;
- Eggers, Stefanie;
- Leonhard, Wouter N.;
- Sinclair, Andrew H.;
- White, Stefan J.
Publication type:
Article
The avian Z-linked gene DMRT1 is required for male sex determination in the chicken.
Published in:
Nature, 2009, v. 461, n. 7261, p. 267, doi. 10.1038/nature08298
By:
- Smith, Craig A.;
- Roeszler, Kelly N.;
- Ohnesorg, Thomas;
- Cummins, David M.;
- Farlie, Peter G.;
- Doran, Timothy J.;
- Sinclair, Andrew H.
Publication type:
Article
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1105-y
By:
- Eggers, Stefanie;
- Sadedin, Simon;
- van den Bergen, Jocelyn A.;
- Robevska, Gorjana;
- Ohnesorg, Thomas;
- Hewitt, Jacqueline;
- Lambeth, Luke;
- Bouty, Aurore;
- Knarston, Ingrid M.;
- Tiong Yang Tan;
- Cameron, Fergus;
- Werther, George;
- Hutson, John;
- O?Connell, Michele;
- Grover, Sonia R.;
- Heloury, Yves;
- Zacharin, Margaret;
- Bergman, Philip;
- Kimber, Chris;
- Brown, Justin
Publication type:
Article
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 124, doi. 10.1002/humu.23354
By:
- Robevska, Gorjana;
- van den Bergen, Jocelyn A.;
- Ohnesorg, Thomas;
- Eggers, Stefanie;
- Hanna, Chloe;
- Hersmus, Remko;
- Thompson, Elizabeth M.;
- Baxendale, Anne;
- Verge, Charles F.;
- Lafferty, Antony R.;
- Marzuki, Nanis S.;
- Santosa, Ardy;
- Listyasari, Nurin A.;
- Riedl, Stefan;
- Warne, Garry;
- Looijenga, Leendert;
- Faradz, Sultana;
- Ayers, Katie L.;
- Sinclair, Andrew H.
Publication type:
Article
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186331
By:
- Meyers-Wallen, Vicki N.;
- Boyko, Adam R.;
- Danko, Charles G.;
- Grenier, Jennifer K.;
- Mezey, Jason G.;
- Hayward, Jessica J.;
- Shannon, Laura M.;
- Gao, Chuan;
- Shafquat, Afrah;
- Rice, Edward J.;
- Pujar, Shashikant;
- Eggers, Stefanie;
- Ohnesorg, Thomas;
- Sinclair, Andrew H.
Publication type:
Article
Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion.
Published in:
PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006067
By:
- Wu, Zuopeng;
- Liang, Rong;
- Ohnesorg, Thomas;
- Cho, Vicky;
- Lam, Wesley;
- Abhayaratna, Walter P.;
- Gatenby, Paul A.;
- Perera, Chandima;
- Zhang, Yafei;
- Whittle, Belinda;
- Sinclair, Andrew;
- Goodnow, Christopher C.;
- Field, Matthew;
- Andrews, T. Daniel;
- Cook, Matthew C.
Publication type:
Article

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