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1

Constitutional trisomy 8 and Behçet syndrome

Kristin Becker, Oliver FitzGerald, Andrew J Green, Mary Keogan, Ruth Newbury-Ecob, Lynn Greenhalgh, Stephen Withers, Edward J. Hollox, Patricia M.R. Aldred, John A.L. Armour

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 109 KB

english, 2009

2

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus

Edward J. Hollox, Jan-Christoph Detering, Tushna Dehnugara

Journal:

Year:

2009

Language:

english

File:

PDF, 470 KB

english, 2009

3

Assessment of complement C4 gene copy number using the paralog ratio test

Michelle M.A. Fernando, Lora Boteva, David L. Morris, Bi Zhou, Yee Ling Wu, Marja-Liisa Lokki, Chack Yung Yu, John D. Rioux, Edward J. Hollox, Timothy J. Vyse

Journal:

Year:

2010

Language:

english

File:

PDF, 388 KB

english, 2010

4

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour, Walter J Muir

Journal:

BMC Medical Genetics

Year:

2004

Language:

english

File:

PDF, 654 KB

english, 2004

5

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Edward J Hollox, Jane Davies, Uta Griesenbach, Juliana Burgess, Eric WFW Alton, John AL Armour

Journal:

Journal of Negative Results in BioMedicine

Year:

2005

Language:

english

File:

PDF, 562 KB

english, 2005

6

Psoriasis is associated with increased β-defensin genomic copy number

Hollox, Edward J, Huffmeier, Ulrike, Zeeuwen, Patrick L J M, Palla, Raquel, Lascorz, Jesús, Rodijk-Olthuis, Diana, van de Kerkhof, Peter C M, Traupe, Heiko, de Jongh, Gys, Heijer, Martin den

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

7

Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions

Hollox, Edward J, Poulter, Mark, Wang, Yangxi, Krause, Amanda, Swallow, Dallas M

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 533 KB

english, 1999

8

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype

Hollox, Edward J, Armour, John A L

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 50 KB

english, 2003

9

Evolutionary Genetics: Genetics of lactase persistence – fresh lessons in the history of milk drinking

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 65 KB

english, 2004

10

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

Barber, John C K, Maloney, Viv, Hollox, Edward J, Stuke-Sontheimer, Annegret, du Bois, Gabi, Daumiller, Eva, Klein-Vogler, Ute, Dufke, Andreas, Armour, John A L, Liehr, Thomas

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

11

Evolutionary genetics of the human Rh blood group system

Perry, George H., Xue, Yali, Smith, Richard S., Meyer, Wynn K., Çalışkan, Minal, Yanez-Cuna, Omar, Lee, Arthur S., Gutiérrez-Arcelus, María, Ober, Carole, Hollox, Edward J., Tyler-Smith, Chris, Lee, C

Journal:

Year:

2012

Language:

english

File:

PDF, 467 KB

english, 2012

12

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

Lee R. Machado, Robert J. Hardwick, Jennifer Bowdrey, Helen Bogle, Timothy J. Knowles, Manuela Sironi, Edward J. Hollox

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.00 MB

english, 2012

13

Directional and balancing selection in human beta-defensins

Edward J Hollox, John AL Armour

Journal:

BMC Evolutionary Biology

Year:

2008

Language:

english

File:

PDF, 565 KB

english, 2008

14

Editorial: β-Defensins and Crohn's Disease: Confusion From Counting Copies

Hollox, Edward J

Journal:

American Journal of Gastroenterology

Year:

2010

Language:

english

File:

PDF, 84 KB

english, 2010

15

Lactase Haplotype Diversity in the Old World

Edward J. Hollox, Mark Poulter, Marek Zvarik, Vladimir Ferak, Amanda Krause, Trefor Jenkins, Nilmani Saha, Andrew I. Kozlov, Dallas M. Swallow

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 352 KB

english, 2001

16

The genetically programmed down-regulation of lactase in children

Yangxi Wang, Clare B. Harvey, Edward J. Hollox, Alan D. Phillips, Mark Poulter, Peter Clay, John A. Walker-Smith, Dallas M. Swallow

Journal:

Gastroenterology

Year:

1998

Language:

english

File:

PDF, 1.62 MB

english, 1998

17

Lactase persistence, allelic asociation, and possible heterogeneity

Mark Poulter, Edward J. Hollox, Clare B. Harvey, Charlotte Mulcare, Katri Peuhkuri, Kajsa Kajander, Martin Sarner, Riitta Korpela, Dallas M. Swallow

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

18

Detection of Copy Number Changes in DNA from Formalin Fixed Paraffin Embedded Tissues Using Paralogue Ratio Tests

Saldanha, Gerald, Potter, Linda, Dyall, Lovesh, Bury, Danielle, Hathiari, Nisreen, Ehdode, Abdlrzag, Hollox, Edward, Pringle, James Howard

Journal:

Analytical Chemistry

Year:

2011

Language:

english

File:

PDF, 4.41 MB

english, 2011

19

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

Hardwick, Robert J., Ménard, Anne, Sironi, Manuela, Milet, Jacqueline, Garcia, André, Sese, Claude, Yang, Fengtang, Fu, Beiyuan, Courtin, David, Hollox, Edward J.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

20

The cis-element determining lactase persistence: Localisation by decay of single nucleotide polymorpffism (SNP) haplotype sharing

Poulter, Mark, Hollox, Edward J., Harvey, Clare B., Korpela, Riitta, Swallow, Dallas M.

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 172 KB

english, 2000

21

Human gene copy number variation and infectious disease

Edward J. Hollox,Boon-Peng Hoh

Journal:

Year:

2014

Language:

english

File:

PDF, 709 KB

english, 2014

22

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2

Tyson, Christine, Sharp, Andrew J, Hrynchak, Monica, Yong, Siu L, Hollox, Edward J, Warburton, Peter, Barber, John CK

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 868 KB

english, 2014

23

Is variation in copy number of the human beta defensin gene cluster associated with preterm birth?

James, Catherine, Abujaber, Razan, Bajaj-Elliott, Mona, Syngelaki, Argyro, Klein, Nigel, Nicolaides, Kypros, Hollox, Edward, Peebles, Donald

Journal:

Year:

2015

Language:

english

File:

PDF, 58 KB

english, 2015

24

Evolution of the rapidly mutating human salivary agglutinin gene ( DMBT1 ) and population subsistence strategy

Polley, Shamik, Louzada, Sandra, Forni, Diego, Sironi, Manuela, Balaskas, Theodosius, Hains, David S., Yang, Fengtang, Hollox, Edward J.

Journal:

Proceedings of the National Academy of Sciences

Year:

2015

Language:

english

File:

PDF, 951 KB

english, 2015

25

DNA copy number analysis by MAPH: molecular diagnostic applications

Hollox, Edward J, Akrami, Seyed M, Armour, John A L

Journal:

Expert Review of Molecular Diagnostics

Year:

2002

Language:

english

File:

PDF, 415 KB

english, 2002

26

Recurrent mutation at the classical haptoglobin structural polymorphism

Hollox, Edward J, Wain, Louise V

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

27

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data

Forni, Diego, Martin, Diana, Abujaber, Razan, Sharp, Andrew J., Sironi, Manuela, Hollox, Edward J.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

28

Fcγ receptors: genetic variation, function, and disease

Hargreaves, Chantal E., Rose-Zerilli, Matthew J. J., Machado, Lee R., Iriyama, Chisako, Hollox, Edward J., Cragg, Mark S., Strefford, Jonathan C.

Journal:

Immunological Reviews

Year:

2015

Language:

english

File:

PDF, 695 KB

english, 2015

29

Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer

Pal, Raj P., Kockelbergh, Roger C., Pringle, John Howard, Cresswell, Lara, Hew, Roger, Dormer, John P., Cooper, Colin, Mellon, John Kilian, Barwell, Julian G., Hollox, Edward J.

Journal:

BJU International

Year:

2016

Language:

english

File:

PDF, 665 KB

english, 2016

30

Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn’s disease

Polley, Shamik, Prescott, Natalie, Nimmo, Elaine, Veal, Colin, Vind, Ida, Munkholm, Pia, Fode, Peder, Mansfield, John, Skyt Andersen, Paal, Satsangi, Jack, G Mathew, Christopher, Hollox, Edward J

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.06 MB

english, 2016

31

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Barber, John C K, Sharp, Andrew J, Hollox, Edward J, Tyson, Christine

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

32

Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis

Rahbari, Raheleh, Zuccherato, Luciana W, Tischler, German, Chihota, Belinda, Ozturk, Hasret, Saleem, Sara, Tarazona-Santos, Eduardo, Machado, Lee R, Hollox, Edward J

Journal:

Year:

2017

Language:

english

File:

PDF, 1.16 MB

english, 2017

33

No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS

Abujaber, Razan, Shea, Patrick R., McLaren, Paul J., Lakhi, Shabir, Gilmour, Jill, Allen, Susan, Fellay, Jacques, Hollox, Edward J.

Journal:

Annals of Human Genetics

Year:

2017

Language:

english

File:

PDF, 176 KB

english, 2017

34

Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

James, Catherine P., Bajaj-Elliott, Mona, Abujaber, Razan, Forya, Frida, Klein, Nigel, David, Anna L., Hollox, Edward J., Peebles, Donald M.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.26 MB

english, 2018

35

Copy Number Variation of the Beta Defensin Gene Cluster on Chromosome 8p Influences the Bacterial Microbiota within the Nasopharynx of Otitis-Prone Children

Jones, Eric A., Kananurak, Anchasa, Bevins, Charles L., Hollox, Edward J., Bakaletz, Lauren O., Harder, Jürgen

Journal:

Year:

2014

Language:

english

File:

PDF, 329 KB

english, 2014

36

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus

Hargreaves, Chantal E., Iriyama, Chisako, Rose-Zerilli, Matthew J. J., Nagelkerke, Sietse Q., Hussain, Khiyam, Ganderton, Rosalind, Lee, Charlotte, Machado, Lee R., Hollox, Edward J., Parker, Helen, L

Journal:

Year:

2015

Language:

english

File:

PDF, 1.75 MB

english, 2015

37

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels

Algady, Walid, Louzada, Sandra, Carpenter, Danielle, Brajer, Paulina, Färnert, Anna, Rooth, Ingegerd, Ngasala, Billy, Yang, Fengtang, Shaw, Marie-Anne, Hollox, Edward J.

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.38 MB

english, 2018

38

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function

Adewoye, Adeolu B., Shrine, Nick, Odenthal-Hesse, Linda, Welsh, Samantha, Malarstig, Anders, Jelinsky, Scott, Kilty, Iain, Tobin, Martin D., Hollox, Edward J., Wain, Louise V.

Journal:

Wellcome Open Research

Year:

2018

Language:

english

File:

PDF, 1.33 MB

english, 2018

39

Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A

Zuccherato, Luciana W., Elói-Santos, Silvana M., Jardim, Letícia L., Camelo, Ricardo M., Chaves, Daniel G., Souza, Renan P., Hollox, Edward J., Rezende, Suely M.

Journal:

Year:

2019

File:

PDF, 335 KB

2019

40

Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A

Zuccherato, Luciana W., Elói-Santos, Silvana M., Jardim, Letícia L., Camelo, Ricardo M., Chaves, Daniel G., Souza, Renan P., Hollox, Edward J., Rezende, Suely M.

Journal:

Year:

2019

Language:

english

File:

PDF, 335 KB

english, 2019

41

Genotyping complex structural variation at the malariaâassociated human glycophorin locus using a PCRâbased strategy

Algady, Walid, Weyell, Eleanor, Mateja, Daria, Garcia, AndrÃ©, Courtin, David, Hollox, Edward J.

Journal:

Annals of Human Genetics

Year:

2020

File:

PDF, 650 KB

2020