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1

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer Kön

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.77 MB

english, 2007

2

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

Alexander Wyatt, Preeti Bakrania, David J. Bunyan, Robert J. Osborne, John A. Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury-Ecob, Y. Abou-Rayyah, J. Richard O. Collin, David Robinson, Nicola Ragge

Journal:

Year:

2008

Language:

english

File:

PDF, 195 KB

english, 2008

3

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury-Ecob, Sian Ellard

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

4

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

Richardson, Ruth, Splitt, Miranda, Newbury-Ecob, Ruth, Hulbert, Alice, Kennedy, Joanna, Weber, Astrid

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 563 KB

english, 2018

5

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations inPTPN11

Kamini Kalidas, Adam C. Shaw, Andrew H. Crosby, Ruth Newbury-Ecob, Lynn Greenhalgh, Isabel K. Temple, Caroline Law, Amisha Patel, Michael A. Patton, Steve Jeffery

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

6

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

van Bokhoven, Hans, Celli, Jacopo, van Reeuwijk, Jeroen, Rinne, Tuula, Glaudemans, Bob, van Beusekom, Ellen, Rieu, Paul, Newbury-Ecob, Ruth A, Chiang, Chin, Brunner, Han G

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 179 KB

english, 2005

7

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Mansour, Sahar, Swinkels, Marielle, Terhal, Paulien A, Wilson, Louise C, Rich, Philip, Van Maldergem, Lionel, Zwijnenburg, Petra JG, Hall, Christine M, Robertson, Stephen P, Newbury-Ecob, Ruth

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 487 KB

english, 2012

8

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?

John S. Ferguson, Shymalar Gunatheesan, Glen Brice, Rob Hastings, Ruth Newbury-Ecob, Peter S. Mortimer, Sahar Mansour

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 151 KB

english, 2011

9

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

10

The role of comparative genomic hybridisation in prenatal diagnosis

Angela Thein, Adrian Charles, Teresa Davies, Ruth Newbury-Ecob, Peter Soothill

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2001

Language:

english

File:

PDF, 1.06 MB

english, 2001

11

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 969 KB

english, 2018

12

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

Toutain, Annick, Dessay, Benoît, Ronce, Nathalie, Ferrante, Maria-Immacolata, Tranchemontagne, Julie, Newbury-Ecob, Ruth, Wallgren-Pettersson, Carina, Burn, John, Kaplan, Josseline, Rossi, Annick

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

13

The phenotype of Floating–Harbor syndrome in 10 patients

Susan M. White, Angela Morgan, Annette Da Costa, Didier Lacombe, Samantha J.L. Knight, Richard Houlston, Margo L. Whiteford, Ruth A. Newbury-Ecob, Jane A. Hurst

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

14

Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

Terrett, Jonathan A., Newbury-Ecob, Ruth, Cross, Gareth S., Fenton, Iain, Raeburn, J. Alexander, Young, Ian D., Brook, J. David

Journal:

Nature Genetics

Year:

1994

File:

PDF, 363 KB

1994

15

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

Low, Karen, Smith, James, Lee, Simon, Newbury-Ecob, Ruth

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 835 KB

english, 2013

16

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

Ann M. Cantlay, Kayvan Shokrollahi, John T. Allen, Peter W. Lunt, Ruth A. Newbury-Ecob, Colin G. Steward

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 170 KB

english, 1999

17

New macular findings in individuals with biallelic KLHL7 gene mutation

Heng, Ling Zhi, Kennedy, Joanna, Smithson, Sarah, Newbury-Ecob, Ruth, Churchill, Amanda

Journal:

BMJ Open Ophthalmology

Year:

2019

Language:

english

File:

PDF, 424 KB

english, 2019

18

The relationship between perceived risk, thought intrusiveness and emotional well-being in women receiving counselling for breast cancer risk in a family history clinic

Gerry Kent, Helen Howie, Michelle Fletcher, Ruth Newbury-Ecob, Ken Hosie

Journal:

British Journal of Health Psychology

Year:

2000

Language:

english

File:

PDF, 133 KB

english, 2000

19

Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

Mirza, Ghazala, Williams, Ruth R, Mohammed, Shela, Clark, Robin, Newbury-Ecob, Ruth, Baldinger, Shari, Flinter, Frances, Ragoussis, Jiannis

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 178 KB

english, 2004

20

Ghazi M Rayan and Joseph Upton III: Congenital Hand Anomalies and Associated Syndromes

Newbury-Ecob, Ruth

Journal:

Year:

2015

Language:

english

File:

PDF, 333 KB

english, 2015

21

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

Albers, Cornelis A, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric

Journal:

Current Opinion in Genetics & Development

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

22

Dysmorphology of Barth syndrome

Hastings, Rob, Steward, Colin, Tsai-Goodman, Beverly, Newbury-Ecob, Ruth

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 148 KB

english, 2009

23

‘Medicine’s Next Goldmine?’ The Implications of New Genetic Health Technologies for the Health Service

Michael Calnan, David Wainwright, Peter Glasner, Ruth Newbury-Ecob, Ewan Ferlie

Journal:

Medicine, Health Care and Philosophy

Year:

2006

Language:

english

File:

PDF, 193 KB

english, 2006

24

Supernumerary Intestinal Muscle Coat in a Patient with Hirschsprung Disease/Mowat-Wilson Syndrome

Leong, May, Verey, Frances, Newbury-Ecob, Ruth, Ramani, Pramila

Journal:

Pediatric and Developmental Pathology

Year:

2010

Language:

english

File:

PDF, 1.10 MB

english, 2010

25

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Ali Jalali, Kimberly A. Aldinger, Ajit Chary, David G. Mclone, Robin M. Bowman, Luan Cong Le, Phillip Jardine, Ruth Newbury-Ecob, Andrew Mallick, Nadereh Jafari, Eric J. Russell, John Curran, Pam Nguy

Journal:

Year:

2008

Language:

english

File:

PDF, 452 KB

english, 2008

26

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Yi Li, Quan, Newbury-Ecob, Ruth A., Terrett, Jonathan A., Wilson, David I., Curtis, Andrew R.J., Ho Yi, Cheong, Gebuhr, Tom, Bullen, Philip J., Robson, Stephen C., Strachan, Tom

Journal:

Nature Genetics

Year:

1997

File:

PDF, 1.69 MB

1997

27

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

WALSH, MARK A., STUART, ALAN G., SCHLECHT, HELENE B., JAMES, ANDREW F., HANCOX, JULES C., NEWBURY-ECOB, RUTH A.

Journal:

Pacing and Clinical Electrophysiology

Year:

2016

Language:

english

File:

PDF, 512 KB

english, 2016

28

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri,

Journal:

Year:

2020

File:

PDF, 471 KB

2020

29

The face of Ulnar Mammary syndrome?

Shelagh Joss, Usha Kini, Richard Fisher, Stefan Mundlos, Katrina Prescott, Ruth Newbury-Ecob, John Tolmie

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

30

Holt-Oram syndrome: Is there a “face”?

Judith E. Allanson, Ruth A. Newbury-Ecob

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 224 KB

english, 2003

31

Mesenteric angina complicating a mesodermal anomaly

Rachel Howells, Andrew Curran, Philip Jardine, Ruth Newbury-Ecob, Bhupinder Sandhu

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 169 KB

english, 2000

32

210 Clinical Utility of Gene Panel and Clinical Exome Testing in Cardiac Disease

Gable, Mary, Buxton, Chris, Woodward, Geoff, Wadsley, Marc, Honeychurch, Julie, Joanne, Davies, Newbury-Ecob, Ruth, Low, Karen, Donaldson, Alan, Affleck, Josphine, Whittington, Rebecca, Greenslade, Ma

Journal:

Year:

2016

Language:

english

File:

PDF, 392 KB

english, 2016

33

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Robertson, Stephen P., Twigg, Stephen R.F., Sutherland-Smith, Andrew J., Biancalana, Valérie, Gorlin, Robert J., Horn, Denise, Kenwrick, Susan J., Kim, Chong A., Morava, Eva, Newbury-Ecob, Ruth

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 663 KB

english, 2003

34

Rubinstein–Taybi syndrome type 2

Hamilton, Mark J., Newbury-Ecob, Ruth, Holder-Espinasse, Muriel, Yau, Shu, Lillis, Suzanne, Hurst, Jane A., Clement, Emma, Reardon, William, Joss, Shelagh, Hobson, Emma, Blyth, Moira, Al-Shehhi, Marya

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 815 KB

english, 2016

35

203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease

Gable, Mary, Burton-Jones, Sarah, Turner, Claire, Dean, John, Constantinou, Panayiotis, Scurr, Ingrid, Low, Karen, Wakeling, Emma, Newbury-Ecob, Ruth, Williams, Maggie

Journal:

Year:

2016

Language:

english

File:

PDF, 79 KB

english, 2016

36

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Gray, Belinda, Hasdemir, Can, Ingles, Jodie, Aiba, Takeshi, Makita, Naomasa, Probst, Vincent, Wilde, Arthur A.M., Newbury-Ecob, Ruth, Sheppard, Mary N., Semsarian, Christopher, Sy, Raymond W., Behr, E

Journal:

Year:

2018

Language:

english

File:

PDF, 294 KB

english, 2018

37

Pseudotail as a feature of microphthalmia with linear skin defects syndrome

Alberry, Medhat S., Juvanic, Gordan, Crolla, John, Soothill, Peter, Newbury-Ecob, Ruth

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 173 KB

english, 2011

38

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

Rob Hastings, Ruth Newbury-Ecob, Antony Ng, Rohan Taylor

Journal:

Genes, Chromosomes and Cancer

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

39

Merlin G. Butler, Philip D. K. Lee, Barbara Y. Whitman: Management of Prader-Willi syndrome

Ruth Newbury-Ecob

Journal:

Year:

2008

Language:

english

File:

PDF, 103 KB

english, 2008

40

The role of comparative genomic hybridisation in prenatal diagnosis

Angela Thein, Adrian Charles, Teresa Davies, Ruth Newbury-Ecob, Peter Soothill

Journal:

British Journal of Obstetrics and Gynaecology

Year:

2001

Language:

english

File:

PDF, 1.07 MB

english, 2001

41

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

Sellick, Gabrielle S., Hoornaert, Kristein P., Mortier, Geert R., King, Catherine, Dolling, Claire L., Newbury-Ecob, Ruth A., Gargan, Martin, Hall, Christine M., Houlston, Richard S., Smithson, Sarah

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

42

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5

Low, Karen J., Buxton, Chris C., Newbury-Ecob, Ruth A.

Journal:

Clinical Dysmorphology

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

43

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 913 KB

2020

44

Mosaic trisomy 8 and Townes–Brocks syndrome due to a novel SALL1 mutation in the same patient

Kerstin N. Walter, K. Lynn Greenhalgh, Ruth A. Newbury-Ecob, Jürgen Kohlhase

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 141 KB

english, 2006

45

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal Duijf, Ben C.J Hamel, Michael Bamshad, Bridget Kramer, Arie P.T Smits, Ruth Newbury-Ecob, Raoul C.M Hennekam, Griet Van Buggenhout, Arie van Haeringen, C.Geoffrey Woods, Anthonie

Journal:

Year:

1999

Language:

english

File:

PDF, 374 KB

english, 1999

46

A case of probable Bohring–Opitz syndrome with medulloblastoma

Hastings, Rob W.T., Newbury-Ecob, Ruth, Lunt, Peter W.

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

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