Gene conversion homogenizes the CMT1A paralogous repeats

by Hurles, Matthew E
Published 2001

Shotgun haplotyping: a novel method for surveying allelic sequence variation

by Lindsay, Sarah J., Bonfield, James K., Hurles, Matthew E.
Published 2005

Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots

by Hurles, Matthew E, Willey, David, Matthews, Lucy, Hussain, Syed Sufyan
Published 2004

Quantifying single nucleotide variant detection sensitivity in exome sequencing

by Meynert, Alison M, Bicknell, Louise S, Hurles, Matthew E, Jackson, Andrew P, Taylor, Martin S
Published 2013

Empirical research on the ethics of genomic research

by Middleton, Anna, Parker, Michael, Wright, Caroline F, Bragin, Eugene, Hurles, Matthew E
Published 2013

Exome Sequencing in Fetuses with Structural Malformations

by Mackie, Fiona L., Carss, Keren J., Hillman, Sarah C., Hurles, Matthew E., Kilby, Mark D.
Published 2014

The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline

by Adewoye, Adeolu B., Lindsay, Sarah J., Dubrova, Yuri E., Hurles, Matthew E.
Published 2015

Validity of the Family-Based Association Test for Copy Number Variant Data in the Case of Non-Linear Intensity-Genotype Relationship

by Zanda, Manuela, Onengut, Suna, Walker, Neil, Todd, John A, Clayton, David G, Rich, Stephen S, Hurles, Matthew E, Plagnol, Vincent
Published 2012

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

by Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Published 2014

The Rate of Nonallelic Homologous Recombination in Males Is Highly Variable, Correlated between Monozygotic Twins and Independent of Age

by MacArthur, Jacqueline A. L., Spector, Timothy D., Lindsay, Sarah J., Mangino, Massimo, Gill, Raj, Small, Kerrin S., Hurles, Matthew E.
Published 2014

Potential research participants support the return of raw sequence data

by Middleton, Anna, Wright, Caroline F, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Parker, Michael
Published 2015

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

by Middleton, Anna, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Wright, Caroline F, Parker, Michael
Published 2016

Using population data for assessing next-generation sequencing performance

by Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Published 2015

High throughput exome coverage of clinically relevant cardiac genes

by Manase, Dorin, D’Alessandro, Lisa CA, Manickaraj, Ashok Kumar, Al Turki, Saeed, Hurles, Matthew E, Mital, Seema
Published 2014

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

by Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Published 2012

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

by Carss, Keren J., Hillman, Sarah C., Parthiban, Vijaya, McMullan, Dominic J., Maher, Eamonn R., Kilby, Mark D., Hurles, Matthew E.
Published 2014

Cerebral organoids model human brain development and microcephaly

by Lancaster, Madeline A., Renner, Magdalena, Martin, Carol-Anne, Wenzel, Daniel, Bicknell, Louise S., Hurles, Matthew E., Homfray, Tessa, Penninger, Josef M., Jackson, Andrew P., Knoblich, Juergen A.
Published 2013

A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes

by Zanda, Manuela, Onengut-Gumuscu, Suna, Walker, Neil, Shtir, Corina, Gallo, Daniel, Wallace, Chris, Smyth, Deborah, Todd, John A., Hurles, Matthew E., Plagnol, Vincent, Rich, Stephen S.
Published 2014

Copy number variation in the human Y chromosome in the UK population

by Wei, Wei, Fitzgerald, Tomas, Ayub, Qasim, Massaia, Andrea, Smith, Blair B., Dominiczak, Anna A., Morris, Andrew A., Porteous, David D., Hurles, Matthew E., Tyler-Smith, Chris, Xue, Yali
Published 2015

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

by Chatzimichali, Eleni A., Brent, Simon, Hutton, Benjamin, Perrett, Daniel, Wright, Caroline F., Bevan, Andrew P., Hurles, Matthew E., Firth, Helen V., Swaminathan, Ganesh J.
Published 2015