Eamonn G. Sheridan: search on Z-Library

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1

Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs)

Xiaohong (Rose) Yang, Michael Beerman, Andrew W. Bergen, Dilys M. Parry, Eamonn Sheridan, Norbert J. Liebsch, Michael J. Kelley, Stephen Chanock, Alisa M. Goldstein

Journal:

International Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

2

Gain-Switched Optical Frequency Combs for Future Mobile Radio-over-Fiber Millimeter-Wave Systems

Browning, Colm, Hallak Elwan, Hamza, Martin, Eamonn P., Duill, Sean O', Poette, Julien, Sheridan, Paul, Farhang, Arman, Cabon, Beatrice, Barry, Liam P.

Journal:

Journal of Lightwave Technology

Year:

2018

Language:

english

File:

PDF, 1.89 MB

english, 2018

3

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

Sheridan, Eamonn, Wright, John, Small, Neil, Corry, Peter C, Oddie, Sam, Whibley, Catherine, Petherick, Emily S, Malik, Teena, Pawson, Nicole, McKinney, Patricia A, Parslow, Roger C

Journal:

Year:

2013

Language:

english

File:

PDF, 197 KB

english, 2013

4

Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme

Tejeda, Gonzalo S., Whiteley, Ellanor L., Deeb, Tarek Z., Bürli, Roland W., Moss, Stephen J., Sheridan, Eamonn, Brandon, Nicholas J., Baillie, George S.

Journal:

Proceedings of the National Academy of Sciences

Year:

2020

Language:

english

File:

PDF, 2.43 MB

english, 2020

5

Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.99 MB

english, 2017

6

Use of zebrafish models to investigate rare human disease

Adamson, Kathryn Isabel, Sheridan, Eamonn, Grierson, Andrew James

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 679 KB

english, 2018

7

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome

Niki P Baxter, Sean R.G Duffy, Eamonn Sheridan

Journal:

BJOG: An International Journal of Obstetrics and Gynaecology

Year:

2002

Language:

english

File:

PDF, 43 KB

english, 2002

8

Analysis of the Born in Bradford birth cohort – Authors' reply

Sheridan, Eamonn, Wright, John, Corry, Peter, Oddie, Sam, Small, Neil, Parslow, Roger C

Journal:

Year:

2014

Language:

english

File:

PDF, 162 KB

english, 2014

9

DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Ian M. Carr, Colin A. Johnson, Alex F. Markham, Carmel Toomes, David T. Bonthron, Eamonn G. Sheridan

Journal:

Year:

2011

Language:

english

File:

PDF, 559 KB

english, 2011

10

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, Davi

Journal:

Year:

2014

Language:

english

File:

PDF, 723 KB

english, 2014

11

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.

Journal:

Laboratory Investigation

Year:

2019

Language:

english

File:

PDF, 4.21 MB

english, 2019

12

Response to Braun et al.

Eamonn Sheridan, David T. Bonthron, Mohammad R. Abdollahi

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

13

Endometrial abnormalities in three sisters from a family with hereditary non-polyposis colorectal cancer syndrome

Niki P. Baxter, Sean R.G. Duffy, Eamonn Sheridan

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2002

Language:

english

File:

PDF, 42 KB

english, 2002

14

Impact of delayed processing of bovine peripheral blood on differential gene expression

Michael P. Sheridan, John A. Browne, David E. MacHugh, Eamon Costello, Eamonn Gormley

Journal:

Veterinary Immunology and Immunopathology

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

15

Malignant melanoma and renal cell carcinoma: Immunological and haematological effects of recombinant human interleukin-2

Khizar Hayat, Sheila Rodgers, Lesley Bruce, Robert C. Rees, Karen Chapman, Steve Reeder, Mark S. Dorreen, Eamonn Sheridan, Thiagarajan Sreenivasan, Barry W. Hancock

Journal:

European Journal of Cancer and Clinical Oncology

Year:

1991

Language:

english

File:

PDF, 809 KB

english, 1991

16

Replication of the Recessive STBMS1 Locus but with Dominant Inheritance

Rice, Aine, Nsengimana, Je´re´mie, Simmons, Ian G., Toomes, Carmel, Hoole, Janice, Willoughby, Colin E., Cassidy, Frances, Williams, Grange A., George, Nick D., Sheridan, Eamonn, Young, Terri L., Hunt

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 754 KB

english, 2009

17

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKi

Journal:

Year:

2014

Language:

english

File:

PDF, 558 KB

english, 2014

18

IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

Ian M. Carr, Eamonn Sheridan, Bruce E. Hayward, Alexander F. Markham, David T. Bonthron

Journal:

Year:

2009

Language:

english

File:

PDF, 398 KB

english, 2009

19

T (brachyury) gene duplication confers major susceptibility to familial chordoma

Yang, Xiaohong R, Ng, David, Alcorta, David A, Liebsch, Norbert J, Sheridan, Eamonn, Li, Sufeng, Goldstein, Alisa M, Parry, Dilys M, Kelley, Michael J

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 453 KB

english, 2009

20

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., J

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 296 KB

english, 2015

21

Risk Factors for Congenital Anomaly in a Multiethnic Birth Cohort

Sheridan, Eamonn, Wright, John, Small, Neil, Corry, Peter C., Oddie, Sam, Whibley, Catherine, Petherick, Emily S., Malik, Teena, Pawson, Nicole, McKinney, Patricia A., Parslow, Roger C.

Journal:

Obstetric and Gynecologic Survey

Year:

2014

Language:

english

File:

PDF, 147 KB

english, 2014

22

The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma

Nick J. Wood, Sean R. Duffy, Eamonn Sheridan

Journal:

Year:

2003

Language:

english

File:

PDF, 80 KB

english, 2003

23

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heik

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

24

Improving case ascertainment of congenital anomalies: findings from a prospective birth cohort with detailed primary care record linkage

Bishop, Chrissy, Small, Neil, Mason, Dan, Corry, Peter, Wright, John, Parslow, Roger C, Bittles, Alan H, Sheridan, Eamonn

Journal:

BMJ Paediatrics Open

Year:

2017

Language:

english

File:

PDF, 542 KB

english, 2017

25

Extensive gene conversion at the PMS2 DNA mismatch repair locus

Bruce E. Hayward, Michel De Vos, Elizabeth M.A. Valleley, Ruth S. Charlton, Graham R. Taylor, Eamonn Sheridan, David T. Bonthron

Journal:

Year:

2007

Language:

english

File:

PDF, 311 KB

english, 2007

26

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Ph

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

27

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders

Ian M. Carr, Katarzyna Szymanska, Eamonn Sheridan, Alexander F. Markham, David T. Bonthron, Colin A. Johnson

Journal:

Year:

2009

Language:

english

File:

PDF, 270 KB

english, 2009

28

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 694 KB

english, 2010

29

Macrophages during fibrosis following scleral fistulising surgery in a rat model

Sheridan, Carl M., Unger, William G., Ayliffe, Will, Alam, Yasmin, Goldsmith, John, O'donoghue, Eamonn, McLeod, David

Journal:

Current Eye Research

Year:

1996

Language:

english

File:

PDF, 1.56 MB

english, 1996

30

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.58 MB

english, 2013

31

Treatment of malignant melanoma and renal cell carcinoma with recombinant human interleukin-2: analysis of cytokine levels in sera and culture supernatants

McIntyre, Catherine A., Chapman, Karen, Reeder, Steve, Dorreen, Mark S., Bruce, Lesley, Rodgers, Sheila, Hayat, Khizar, Schreenivasan, Thiagarajan, Sheridan, Eamonn, Hancock, Barry W., Rees, Robert C.

Journal:

European Journal of Cancer

Year:

1992

Language:

english

File:

PDF, 804 KB

english, 1992

32

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

Ingham, Danielle, Diggle, Christine P., Berry, Ian, Bristow, Claire A., Hayward, Bruce E., Rahman, Nazneen, Markham, Alexander F., Sheridan, Eamonn G., Bonthron, David T., Carr, Ian M.

Journal:

Year:

2013

Language:

english

File:

PDF, 133 KB

english, 2013

33

MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS

ANAND, SEEMA, SHERIDAN, EAMONN, CASSIDY, FRANCES, INGLEHEARN, CHRIS, WILLIAMS, GRANGE, SPRINGELL, KELLY, ALLGAR, VICTORIA, KELLY, THU-LAN, McKIBBIN, MARTIN

Journal:

Year:

2009

Language:

english

File:

PDF, 858 KB

english, 2009

34

A global disorder of imprinting in the human female germ line

Judson, Hannah, Hayward, Bruce E., Sheridan, Eamonn, Bonthron, David T.

Journal:

Year:

2002

Language:

english

File:

PDF, 268 KB

english, 2002

35

Enhancing inclusion of diverse populations in genomics: A competence framework

Sharif, Saghira M., Blyth, Moira, Ahmed, Mushtaq, Sheridan, Eamonn, Saltus, Roiyah, Yu, Juping, Tonkin, Emma, Kirk, Maggie

Journal:

Journal of Genetic Counseling

Year:

2020

File:

PDF, 864 KB

2020

36

ABCA12 Is the Major Harlequin Ichthyosis Gene

Thomas, Anna C, Cullup, Tom, Norgett, Elizabeth E, Hill, Tara, Barton, Stephanie, Dale, Beverly A, Sprecher, Eli, Sheridan, Eamonn, Taylor, Aileen E, Wilroy, Robert S

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

37

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 1.98 MB

2020

38

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

Shelagh K. Joss, Sam Ghazawy, Susan Tomkins, Mushtaq Ahmed, John Bradbury, Eamonn Sheridan

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 175 KB

english, 2008

39

Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?

David F. Gilmour, Louise M. Downey, Eamonn Sheridan, Vernon Long, John Bradbury, Chris F. Inglehearn, Carmel Toomes

Journal:

Year:

2009

Language:

english

File:

PDF, 435 KB

english, 2009

40

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 313 KB

english, 2016

41

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

Green, Lydia, Berry, Ian, Childs, Anne-Marie, McCullagh, Helen, Jose, Sandhya, Warren, Dan, Craven, Ian, Camm, Nick, Prescott, Katrina, van der Knaap, Marjo, Sheridan, Eamonn, Livingston, John

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 224 KB

english, 2017

42

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation

Manuel Saldana, Jenny Thompson, Elizabeth Monk, Dorothy Trump, Vernon Long, Eamonn Sheridan

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 65 KB

english, 2007

43

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.

Journal:

Laboratory Investigation

Year:

2019

File:

PDF, 4.21 MB

2019

44

Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33

Michael J. Kelley, Jeannette F. Korczak, Eamonn Sheridan, Xiaohong Yang, Alisa M. Goldstein, Dilys M. Parry

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 909 KB

english, 2001

45

Genetic diagnosis of familial breast cancer using clonal sequencing

Joanne E. Morgan, Ian M. Carr, Eamonn Sheridan, Carol E. Chu, Bruce Hayward, Nick Camm, Helen A. Lindsay, Chris J. Mattocks, Alexander F. Markham, David T. Bonthron, Graham R. Taylor

Journal:

Year:

2010

Language:

english

File:

PDF, 386 KB

english, 2010

46

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn Sheridan, David T. Bonthron

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.23 MB

english, 2004

47

IL-10 suppression of IFN-γ responses in tuberculin-stimulated whole blood from Mycobacterium bovis infected cattle

Sheridan, Michael P., Browne, John A., Doyle, Mairead B., Fitzsimons, Tara, McGill, Kevina, Gormley, Eamonn

Journal:

Veterinary Immunology and Immunopathology

Year:

2017

Language:

english

File:

PDF, 268 KB

english, 2017

48

Introduction to genomics in primary care

Whiter, Alexandra, Sheridan, Eamonn, Hayward, Judith, Rafi, Imran

Journal:

Year:

2020

File:

PDF, 401 KB

2020

49

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Ian M. Carr, Joanne E. Morgan, Christine P. Diggle, Eamonn Sheridan, Alexander F. Markham, Clare V. Logan, Chris F. Inglehearn, Graham R. Taylor, David T. Bonthron

Journal:

Year:

2011

Language:

english

File:

PDF, 1.78 MB

english, 2011

50

Identification of autosomal recessive disease loci using out-bred nuclear families

Ian M. Carr, Christine P. Diggle, Nader Touqan, Rashida Anwar, Eamonn G. Sheridan, David T. Bonthron, Colin A. Johnson, Manir Ali, Alexander F. Markham

Journal:

Year:

2012

Language:

english

File:

PDF, 255 KB

english, 2012

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