IDENTIFICATION OF NOVEL RECURRENT COPY NUMBER VARIATIONS BY HIGH RESOLUTION COMPARATIVE GENOME HYBRIDISATION by Schuh, A, Knight, S, SadighiAkha, E, Enver, T, Taylor, J

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. by Newbury, D, Mari, F, Sadighi Akha, E, Macdermot, K, Canitano, R, Monaco, A, Taylor, J, Renieri, A, Fisher, SE, Knight, S

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder by Newbury, D, Mari, F, Sadighi Akha, E, MacDermot, K, Canitano, R, Monaco, A, Taylor, J, Renieri, A, Fisher, SE, Knight, S

Quantitative Whole Genome Analysis of Sequential Samples From Patients with B-CLL Identifies Novel Recurrent Copy Number Alterations Involving Critical B-Cell Transcription Factors by Timbs, A, Knight, S, SadighiAkha, E, Burns, A, Dreau, H, Hewitt, A, Hatton, C, Yau, C, Holmes, C, Taylor, J, Schuh, A

Quantitative Whole Genome Analysis of Sequential Samples From Patients with B CLL Identifies Novel Recurrent Copy Number Alterations Involving Critical B Cell Transcription Factors by Timbs, A, Knight, S, SadighiAkha, E, Burns, A, Dreau, H, Hewitt, A, Hatton, C, Yau, C, Holmes, C, Taylor, J, Schuh, A

Erratum: Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection (Genes and Immunity (2008) (9) (122-129) 10.1038/sj.gene636... by Mangano, V, Luoni, G, Rockett, K, Sirima, B, Konaté, A, Forton, J, Clark, T, Bancone, G, Sadighi Akha, E, Kwiatkowski, D, Modiano, D

Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection. by Mangano, V, Luoni, G, Rockett, K, Sirima, B, Konaté, A, Forton, J, Clark, T, Bancone, G, Sadighi Akha, E, Akha, E, Kwiatkowski, D, Modiano, D

A 15q13.3 microdeletion segregating with autism. by Pagnamenta, A, Wing, K, Sadighi Akha, E, Knight, S, Bölte, S, Schmötzer, G, Duketis, E, Poustka, F, Klauck, S, Poustka, A, Ragoussis, J, Bailey, A, Monaco, A

The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance. by Mortensen, M, Soilleux, E, Djordjevic, G, Tripp, R, Lutteropp, M, Sadighi-Akha, E, Stranks, A, Glanville, J, Knight, S, Jacobsen, SE, Kranc, K, Simon, A

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. by Pagnamenta, A, Murray, J, Yoon, G, Sadighi Akha, E, Harrison, V, Bicknell, L, Ajilogba, K, Stewart, H, Kini, U, Taylor, J, Keays, D, Jackson, A, Knight, S

Population-specific patterns of linkage disequilibrium in the human 5q31 region. by Luoni, G, Forton, J, Jallow, M, Sadighi Akha, E, Sisay-Joof, F, Pinder, M, Hanchard, N, Herbert, M, Kimber, M, Mott, R, Hull, J, Rockett, K, Kwiatkowski, D

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. by Pagnamenta, A, Lise, S, Harrison, V, Stewart, H, Jayawant, S, Quaghebeur, G, Deng, A, Murphy, V, Sadighi Akha, E, Rimmer, A, Mathieson, I, Knight, S, Kini, U, Taylor, J, Keays, D

Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia. by Knight, S, Yau, C, Clifford, R, Timbs, A, Sadighi Akha, E, Dréau, H, Burns, A, Ciria, C, Oscier, D, Pettitt, A, Dutton, S, Holmes, C, Taylor, J, Cazier, J, Schuh, A

Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia. by Knight, S, Yau, C, Clifford, R, Timbs, A, Sadighi Akha, E, Dréau, H, Burns, A, Ciria, C, Oscier, D, Pettitt, A, Dutton, S, Holmes, C, Taylor, J, Cazier, J, Schuh, A

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. by Twigg, SR, Babbs, C, van den Elzen, M, Goriely, A, Taylor, S, McGowan, S, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, S, Zechi-Ceide, R, Hoogeboom, J, Pober, B, Toriello, H, Wall, SA, Rita Passos-Bueno, M, Brunner, H, Mathijssen, I, Wilkie, A

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. by Twigg, S, Vorgia, E, McGowan, S, Peraki, I, Fenwick, A, Sharma, V, Allegra, M, Zaragkoulias, A, Sadighi Akha, E, Knight, S, Lord, H, Lester, T, Izatt, L, Lampe, A, Mohammed, SN, Stewart, F, Verloes, A, Wilson, L, Healy, C, Sharpe, P, Hammond, P, Hughes, J, Taylor, S, Johnson, D, Wall, SA

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. by Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Sadighi Akha, E, Schnekenberg, R, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M, Hughes, S, Armstrong, R, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J, Buck, D, Taylor, J, Bentley, D, McVean, G, Donnelly, P, Knight, S, Jackson, M, Ragoussis, J, Németh, A