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1

Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, AlfÃ¶ldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schrei

Journal:

Year:

2020

File:

PDF, 12.86 MB

2020

2

Specific HRQL instruments and symptom scores were more responsive than preference-based generic instruments in patients with GERD

Jan L. Brożek, Gordon H. Guyatt, Diane Heels-Ansdell, Alessio Degl'Innocenti, David Armstrong, Carlo A. Fallone, Ingela Wiklund, Sander Veldhuyzen van Zanten, Naoki Chiba, Alan N. Barkun, Elie A. Akl,

Journal:

Journal of Clinical Epidemiology

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

3

Sex Differences in HLA DQ in Celiac Disease

Dubois, Patrick, Hunt, Karen, van Heel, David

Journal:

American Journal of Gastroenterology

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

4

Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: Implications for complex disease genetics

David A. van Heel, Dermot P.B. McGovern, Lon R. Cardon, Bryan M. Dechairo, Nicholas J. Lench, Alisoun H. Carey, Derek P. Jewell

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002

5

Role of NOD2 variants in spondylarthritis

Alison M. Crane, Linda Bradbury, David A. van Heel, Dermot P. B. McGovern, Sinead Brophy, Laurence Rubin, Katherine A. Siminovitch, B. Paul Wordsworth, Andrei Calin, Matthew A. Brown

Journal:

Arthritis & Rheumatism

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

6

Synergistic enhancement of Toll-like receptor responses by NOD1 activation

David A. van Heel, Subrata Ghosh, Matt Butler, Karen Hunt, Brian Michael J. Foxwell, Dominique Mengin-Lecreulx, Raymond J. Playford

Journal:

European Journal of Immunology

Year:

2005

Language:

english

File:

PDF, 221 KB

english, 2005

7

Modulation of dendritic cell phenotype and functionin an in vitro model of the intestinal epithelium

Matt Butler, Chi-Yan Ng, David A. van Heel, Giovanna Lombardi, Robert Lechler, Raymond J. Playford, Subrata Ghosh

Journal:

European Journal of Immunology

Year:

2006

Language:

english

File:

PDF, 357 KB

english, 2006

8

Normal responses to specific NOD1-activating peptidoglycan agonists in the presence of the NOD2 frameshift and other mutations in Crohn's disease

David A. van Heel, Karen A. Hunt, Subrata Ghosh, Mireille Hervé, Raymond J. Playford

Journal:

European Journal of Immunology

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

9

Response

David A van Heel, Raymond J Playford

Journal:

European Journal of Immunology

Year:

2006

Language:

english

File:

PDF, 79 KB

english, 2006

10

The impact of illness in patients with moderate to severe gastro-esophageal reflux disease

Samer El-Dika, Gordon H Guyatt, David Armstrong, Alessio Degl'innocenti, Ingela Wiklund, Carlo A Fallone, Lisa Tanser, Sander Veldhuyzen van Zanten, Diane Heels-Ansdell, Peter Wahlqvist, Naoki Chiba,

Journal:

BMC Gastroenterology

Year:

2005

Language:

english

File:

PDF, 532 KB

english, 2005

11

A revised sequence of the human β7 integrin gene (ITGB7) promoter region obtained by inverse PCR

David A. van Heel, Maxine Allen, Derek P. Jewell, Alisoun H. Carey

Journal:

Year:

2000

Language:

english

File:

PDF, 49 KB

english, 2000

12

Genetics in coeliac disease

David A. van Heel, Karen Hunt, Luigi Greco, Cisca Wijmenga

Journal:

Best Practice & Research Clinical Gastroenterology

Year:

2005

Language:

english

File:

PDF, 160 KB

english, 2005

13

New susceptibility genes for ulcerative colitis

Dubois, Patrick C, van Heel, David A

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

14

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

van Heel, David A, Franke, Lude, Hunt, Karen A, Gwilliam, Rhian, Zhernakova, Alexandra, Inouye, Mike, Wapenaar, Martin C, Barnardo, Martin C N M, Bethel, Graeme, Holmes, Geoffrey K T

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 211 KB

english, 2007

15

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

Dechairo, Bryan, Dimon, Claire, van Heel, David, Mackay, Ian, Edwards, Mark, Scambler, Peter, Jewell, Derek, Cardon, Lon, Lench, Nicholas, Carey, Alisoun

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 152 KB

english, 2001

16

A common CTLA4 haplotype associated with coeliac disease

Ghosh, Subrata, Travis, Simon P L, Walters, Julian R F, Jewell, Derek P, Playford, Raymond J, van Heel, David A, Hunt, Karen A, McGovern, Dermot P B, Kumar, Parveen J

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 79 KB

english, 2005

17

Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease

Dr. David A. van Heel, Karen A. Hunt, Kathy King, Subrata Ghosh, Simon M. Gabe, Christopher G. Mathew, Alastair Forbes, Raymond J. Playford

Journal:

Inflammatory Bowel Diseases

Year:

2006

Language:

english

File:

PDF, 186 KB

english, 2006

18

Calcium Channel TRPV6 Expression in Human Duodenum: Different Relationships to the Vitamin D System and Aging in Men and Women

Julian RF Walters, Sara Balesaria, Konstantia-Maria Chavele, Vivienne Taylor, Jacqueline L Berry, Umma Khair, Natalie F Barley, David A van Heel, Jennifer Field, Jamal O Hayat, Abhik Bhattacharjee, Ro

Journal:

Journal of Bone and Mineral Research

Year:

2006

Language:

english

File:

PDF, 1.50 MB

english, 2006

19

Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays

Lude Franke, Carolien G.F. de Kovel, Yurii S. Aulchenko, Gosia Trynka, Alexandra Zhernakova, Karen A. Hunt, Hylke M. Blauw, Leonard H. van den Berg, Roel Ophoff, Panagiotis Deloukas, David A. van Heel

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.00 MB

english, 2008

20

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

Diana C. Blaydon, Daniela Nitoiu, Katja-Martina Eckl, Rita M. Cabral, Philip Bland, Ingrid Hausser, David A. van Heel, Shefali Rajpopat, Judith Fischer, Vinzenz Oji, Alex Zvulunov, Heiko Traupe, Hans

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.04 MB

english, 2011

21

OR.68. Genetic Risk Model for Celiac Disease Helps Identify High-risk Individuals

Cleo van Diemen, Jihane Romanos, Ilja Nolte, Donatella Barisani, Ross McManus, David van Heel, Cisca Wijmenga

Journal:

Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

22

A Structural and Immunological Basis for the Role of Human Leukocyte Antigen DQ8 in Celiac Disease

Kate N. Henderson, Jason A. Tye-Din, Hugh H. Reid, Zhenjun Chen, Natalie A. Borg, Tim Beissbarth, Arthur Tatham, Stuart I. Mannering, Anthony W. Purcell, Nadine L. Dudek, David A. van Heel, James McCl

Journal:

Year:

2007

Language:

english

File:

PDF, 1.01 MB

english, 2007

23

A genetic perspective on coeliac disease

Gosia Trynka, Cisca Wijmenga, David A. van Heel

Journal:

Trends in Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 1013 KB

english, 2010

24

Genetics and pathogenesis of coeliac disease

Graham A. Heap, David A. van Heel

Journal:

Seminars in Immunology

Year:

2009

Language:

english

File:

PDF, 475 KB

english, 2009

25

Crohn's disease: genetic susceptibility, bacteria, and innate immunity

David A van Heel, Dermot PB McGovern, Derek P Jewell

Journal:

Year:

2001

Language:

english

File:

PDF, 68 KB

english, 2001

26

Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease

David A van Heel, Subrata Ghosh, Matt Butler, Karen A Hunt, Anna MC Lundberg, Tariq Ahmad, Dermot PB McGovern, Clive Onnie, Kenichi Negoro, Sue Goldthorpe, Brian MJ Foxwell, Christopher G Mathew, Alas

Journal:

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

27

Further Evidence of IBD5/CARD15 (NOD2) Epistasis in the Susceptibility to Ulcerative Colitis

Dermot P.B. McGovern, David A. van Heel, Kenichi Negoro, Tariq Ahmad, Derek P. Jewell

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 46 KB

english, 2003

28

Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases

Alexandra Zhernakova, Behrooz Z. Alizadeh, Marianna Bevova, Miek A. van Leeuwen, Marieke J.H. Coenen, Barbara Franke, Lude Franke, Marcel D. Posthumus, David A. van Heel, Gerrit van der Steege, Timoth

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 334 KB

english, 2007

29

Human Pancreatic Secretory Trypsin Inhibitor Stabilizes Intestinal Mucosa against Noxious Agents

Tania Marchbank, Asif Mahmood, Anthony J. Fitzgerald, Jan Domin, Matt Butler, Robert A. Goodlad, George Elia, Helen M. Cox, David A. van Heel, Subrata Ghosh, Raymond J. Playford

Journal:

The American Journal of Pathology

Year:

2007

Language:

english

File:

PDF, 947 KB

english, 2007

30

NOD2 activity modulates the phenotype of LPS-stimulated dendritic cells to promote the development of T-helper type 2-like lymphocytes — Possible implications for NOD2-associated Crohn's disease

Matt Butler, Rakesh Chaudhary, David A. van Heel, Raymond J. Playford, Subrata Ghosh

Journal:

Journal of Crohn's and Colitis

Year:

2007

Language:

english

File:

PDF, 631 KB

english, 2007

31

Reply

David G. Benditt, Demetris Yannopoulos, Keith G. Lurie, Scott Sakaguchi, Laura Van Heel, Simon Milstein, Cengiz Ermis

Journal:

Journal of the American College of Cardiology

Year:

2008

Language:

english

File:

PDF, 52 KB

english, 2008

32

Celiac disease associated with HLA-DQ8 and DQ2 have different T-cell repertoires in vivo

Robert P. Anderson, David Van Heel, Arthur Tatham, Martin Barnardo, Derek P. Jewell, Adrian V. Hill

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 177 KB

english, 2003

33

TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease

Dermot P.B. McGovern, Helen Butler, Tariq Ahmad, Marta Paolucci, David A. van Heel, Kenichi Negoro, Pirro Hysi, Jiannis Ragoussis, Simon P.L. Travis, Lon R. Cardon, Derek P. Jewell

Journal:

Gastroenterology

Year:

2006

Language:

english

File:

PDF, 249 KB

english, 2006

34

No Evidence in a Large UK Collection for Celiac Disease Risk Variants Reported by a Spanish Study

Karen A. Hunt, Lude Franke, Panos Deloukas, Cisca Wijmenga, David A. van Heel

Journal:

Gastroenterology

Year:

2008

Language:

english

File:

PDF, 86 KB

english, 2008

35

Analysis of HLA and Non-HLA Alleles Can Identify Individuals at High Risk for Celiac Disease

Jihane Romanos, Cleo C. van Diemen, Ilja M. Nolte, Gosia Trynka, Alexandra Zhernakova, Jingyuan Fu, Maria Teresa Bardella, Donatella Barisani, Ross McManus, David A. van Heel, Cisca Wijmenga

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 1.15 MB

english, 2009

36

The influence of demographic factors and health-related quality of life on treatment satisfaction in patients with gastroesophageal reflux disease treated with esomeprazole

Alessio Degl' Innocenti, Gordon H Guyatt, Ingela Wiklund, Diane Heels-Ansdell, David Armstrong, Carlo A Fallone, Lisa Tanser, Sander Veldhuyzen van Zanten, Samer El-Dika, Naoki Chiba, Alan N Barkun, P

Journal:

Health and Quality of Life Outcomes

Year:

2005

Language:

english

File:

PDF, 525 KB

english, 2005

37

Genetic insights into common pathways and complex relationships among immune-mediated diseases

Parkes, Miles, Cortes, Adrian, van Heel, David A., Brown, Matthew A.

Journal:

Nature Reviews Genetics

Year:

2013

Language:

english

File:

PDF, 665 KB

english, 2013

38

Association of TNF-α-857 with IBD in the Australian population

O'Callaghan, Nathan J., Adams, Kirsten E., Walker, Erin J., Van Heel, David A., Cavanaugh, Juleen A.

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 176 KB

english, 2003

39

S1751 Copy Number Variant and Extended SNP Genome Wide Association Study in Celiac Disease

Dubois, Patrick C., Trynka, Gosia, Heap, Graham A., Hunt, Karen A., Franke, Lude, van Heel, David, Gwilliam, Rhian, Deloukas, Panagiotis, McManus, Ross, Saavalainen, Paivi, Wijmenga, Cisca

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

40

Polymorphism at position-1031 in the TNF gene confers susceptibility to Crohn's disease

Kinouchi, Yoshitaka, Simmon, Jon, Van Heel, David, Jewell, Derek P.

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 174 KB

english, 2000

41

In vivo cross-reactivity of wheat and rye T-cell epitopes in celiac disease

Anderson, Robert P., Van Heel, David, Tatham, Arthur, Barnardo, Martin, Jewell, Derek P., Hill, Adrian V.

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 259 KB

english, 2003

42

Discordant sib-pair linkage analysis provides further support for the chromosome 12 inflammatory bowel disease susceptibility locus

van Heel, David A., Marlow, Angela, Satsangi, Jack, Carey, Alisoun H., Jewell, Derek P.

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 180 KB

english, 2000

43

Linkage disequilibrium mapping of the chromosome 12 (IBD2) inflammatory bowel disease susceptibility locus in an enlarged cohort

Van Heel, David A., Lench, Nicholas, Cardon, Lon R., Carey, Alisoun H., Jewell, Derek P.

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 178 KB

english, 2003

44

Family based association studies of STAT6, a positional candidate gene for IBD

Dimon, Claire, Allen, Maxine, Van Heel, David A., Mackay, Ian, Lench, Nicholas J., Jewell, Derek P., Carey, Alisoun H.

Journal:

Gastroenterology

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

45

Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

Blaydon, Diana C., Biancheri, Paolo, Di, Wei-Li, Plagnol, Vincent, Cabral, Rita M., Brooke, Matthew A., van Heel, David A., Ruschendorf, Franz, Toynbee, Mark, Walne, Amanda, O'Toole, Edel A., Martin,

Journal:

Boston Medical and Surgical Journal

Year:

2011

Language:

english

File:

PDF, 776 KB

english, 2011

46

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

Gutierrez-Achury, Javier, Zhernakova, Alexandra, Pulit, Sara L, Trynka, Gosia, Hunt, Karen A, Romanos, Jihane, Raychaudhuri, Soumya, van Heel, David A, Wijmenga, Cisca, de Bakker, Paul I W

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

47

Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms

Monsuur, Alienke J., de Bakker, Paul I. W., Zhernakova, Alexandra, Pinto, Dalila, Verduijn, Willem, Romanos, Jihane, Auricchio, Renata, Lopez, Ana, van Heel, David A., Crusius, J. Bart A, Wijmenga, Ci

Journal:

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

48

Selective NOD1 Agonists Cause Shock and Organ Injury/Dysfunction In Vivo

Cartwright, Neil, Murch, Oliver, McMaster, Shaun K., Paul-Clark, Mark J., van Heel, David A., Ryffel, Bernhard, Quesniaux, Valerie F. J., Evans, Timothy W., Thiemermann, Christoph, Mitchell, Jane A.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2007

Language:

english

File:

PDF, 1.28 MB

english, 2007

49

A Randomized Multicenter Trial to Evaluate Simple Utility Elicitation Techniques in Patients With Gastroesophageal Reflux Disease

Schünemann, Holger J., Armstrong, David, Deglʼinnocenti, Alessio, Wiklund, Ingela, Fallone, Carlo A., Tanser, Lisa, Van Zanten, Sander Veldhuyzen, Heels-Ansdell, Diane, El-Dika, Samer, Chiba, Naoki, B

Journal:

Year:

2004

Language:

english

File:

PDF, 395 KB

english, 2004

50

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

Tummala, Hemanth, Walne, Amanda J., Williams, Mike, Bockett, Nicholas, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Wynn, Rob, Leblanc, Thierry, Fitzgibbon, Jude, Kelsell, David P., van Heel, D

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.01 MB

english, 2016