Publications by authors named "Susan Gribble"

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Susan Gribble

Lancet· April 2015

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UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.
Naomi C Wake, Christopher J Ricketts, Mark R Morris, Elena Prigmore, Susan M Gribble

Hum Mutat· December 2013

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Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.
Susan M Gribble, Frances K Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley

PLoS One· October 2013

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A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.
Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Elena Prigmore

Eur J Med Genet· November 2012

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Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media.
Stephanie Kuhn, Neil Ingham, Selina Pearson, Susan M Gribble, Stephen Clayton

PLoS One· July 2012

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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-Grecco

Am J Med Genet A· November 2011

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Susan Gribble

Nat Biotechnol· May 2011

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Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.
Susan M Gribble, Bee Ling Ng, Elena Prigmore, Tomas Fitzgerald, Nigel P Carter

Nat Protoc· February 2010

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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Gaia Gestri, Robert J Osborne, Alexander W Wyatt, Dianne Gerrelli, Susan Gribble

Hum Genet· December 2009

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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Paweł Stankiewicz, Partha Sen, Samarth S Bhatt, Mekayla Storer, Zhilian Xia, Susan Gribble

Am J Hum Genet· June 2009

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Susan Gribble

N Engl J Med· October 2008

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Finishing the finished human chromosome 22 sequence.
Charlotte G Cole, Owen T McCann, John E Collins, Karen Oliver, David Willey, Susan M Gribble

Genome Biol· July 2008

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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
Julia Baptista, Catherine Mercer, Elena Prigmore, Susan M Gribble, Nigel P Carter

Am J Hum Genet· April 2008

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Characterization of a 3;6 translocation associated with renal cell carcinoma.
Rebecca E Foster, Mahera Abdulrahman, Mark R Morris, Elena Prigmore, Susan Gribble

Genes Chromosomes Cancer· April 2007

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Charles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble

Nat Genet· September 2006

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SmartCapture and the frontiers of FISH technology: report of the Digital Scientific UK SmartCapture User's Meeting, Peterhouse College Cambridge, UK, 2nd September 2005.
Alistair G Reid, Susan M Gribble

Chromosome Res· March 2006

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Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Christine Fauth, Susan M Gribble, Keith M Porter, Montserrat Codina-Pascual, Bee Ling Ng

Hum Genet· March 2006

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Karen J Woodward, Maria Cundall, Karen Sperle, Erik A Sistermans, Mark Ross, Susan M Gribble

Am J Hum Genet· December 2005

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Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
Julia Baptista, Elena Prigmore, Susan M Gribble, Patricia A Jacobs, Nigel P Carter

Eur J Hum Genet· November 2005

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The DNA sequence of the human X chromosome.
Mark T Ross, Darren V Grafham, Alison J Coffey, Steven Scherer, Kirsten McLay, Susan Gribble

Nature· March 2005

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Chromosome paints from single copies of chromosomes.
Susan Gribble, Bee L Ng, Elena Prigmore, Deborah C Burford, Nigel P Carter

Chromosome Res· September 2004

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Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.
Sandra Rodríguez-Perales, Bárbara Meléndez, Susan M Gribble, Laura Valle, Nigel P Carter

Hum Mol Genet· May 2004

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Genomic imbalances in CML blast crisis: 8q24.12-q24.13 segment identified as a common region of over-representation.
Susan M Gribble, Alistair G Reid, Ian Roberts, Colin Grace, Anthony R Green

Genes Chromosomes Cancer· August 2003

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