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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
By:
- Pagnamenta, Alistair T;
- Lise, Stefano;
- Harrison, Victoria;
- Stewart, Helen;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Deng, Alexander T;
- Murphy, Valerie Elizabeth;
- Akha, Elham Sadighi;
- Rimmer, Andy;
- Mathieson, Iain;
- Knight, Samantha JL;
- Kini, Usha;
- Taylor, Jenny C;
- Keays, David A
Publication type:
Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
By:
- Pagnamenta, Alistair T.;
- Murray, Jennie E.;
- Yoon, Grace;
- Akha, Elham Sadighi;
- Harrison, Victoria;
- Bicknell, Louise S.;
- Ajilogba, Kaseem;
- Stewart, Helen;
- Kini, Usha;
- Taylor, Jenny C.;
- Keays, David A.;
- Jackson, Andrew P.;
- Knight, Samantha J.L.
Publication type:
Article
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Published in:
Nature Genetics, 2013, v. 45, n. 3, p. 308, doi. 10.1038/ng.2539
By:
- Twigg, Stephen R F;
- Vorgia, Elena;
- McGowan, Simon J;
- Peraki, Ioanna;
- Fenwick, Aimée L;
- Sharma, Vikram P;
- Allegra, Maryline;
- Zaragkoulias, Andreas;
- Akha, Elham Sadighi;
- Knight, Samantha J L;
- Lord, Helen;
- Lester, Tracy;
- Izatt, Louise;
- Lampe, Anne K;
- Mohammed, Shehla N;
- Stewart, Fiona J;
- Verloes, Alain;
- Wilson, Louise C;
- Healy, Chris;
- Sharpe, Paul T
Publication type:
Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
By:
- Newbury, Dianne F;
- Mari, Francesca;
- Sadighi Akha, Elham;
- MacDermot, Kay D;
- Canitano, Roberto;
- Monaco, Anthony P;
- Taylor, Jenny C;
- Renieri, Alessandra;
- Fisher, Simon E;
- Knight, Samantha J L
Publication type:
Article
A 15q13.3 microdeletion segregating with autism.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
By:
- Pagnamenta, Alistair T.;
- Wing, Kirsty;
- Akha, Elham Sadighi;
- Knight, Samantha J. L.;
- Bölte, Sven;
- Schmötzer, Gabriele;
- Duketis, Eftichia;
- Poustka, Fritz;
- Klauck, Sabine M.;
- Poustka, Annemarie;
- Ragoussis, Jiannis;
- Bailey, Anthony J.;
- Monaco, Anthony P.
Publication type:
Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
By:
- Twigg, Stephen R.F.;
- Babbs, Christian;
- van den Elzen, Marijke E.P.;
- Goriely, Anne;
- Taylor, Stephen;
- McGowan, Simon J.;
- Giannoulatou, Eleni;
- Lonie, Lorne;
- Ragoussis, Jiannis;
- Akha, Elham Sadighi;
- Knight, Samantha J.L.;
- Zechi-Ceide, Roseli M.;
- Hoogeboom, Jeannette A.M.;
- Pober, Barbara R.;
- Toriello, Helga V.;
- Wall, Steven A.;
- Rita Passos-Bueno, M.;
- Brunner, Han G.;
- Mathijssen, Irene M.J.;
- Wilkie, Andrew O.M.
Publication type:
Article
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.
Published in:
PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003074
By:
- Lise, Stefano;
- Clarkson, Yvonne;
- Perkins, Emma;
- Kwasniewska, Alexandra;
- Akha, Elham Sadighi;
- Schnekenberg, Ricardo Parolin;
- Suminaite, Daumante;
- Hope, Jilly;
- Baker, Ian;
- Gregory, Lorna;
- Green, Angie;
- Allan, Chris;
- Lamble, Sarah;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Cader, M. Zameel;
- Hughes, Sarah;
- Armstrong, Richard J. E.;
- Kanapin, Alexander;
- Rimmer, Andrew
Publication type:
Article

Found: 7

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

A 15q13.3 microdeletion segregating with autism.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.