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1
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, May 2009, Vol.41(5), pp.535-43 [Peer Reviewed Journal]

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2
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma
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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma

Nature Genetics, Aug 2013, pp.923-6 [Peer Reviewed Journal]

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3
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

Nature genetics, August 2013, Vol.45(8), pp.923-926 [Peer Reviewed Journal]

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4
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Nature Genetics, 2007, Vol.39(9), p.1127 [Peer Reviewed Journal]

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5
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
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RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

Nature Genetics, Feb 2014, pp.116-25 [Peer Reviewed Journal]

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6
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
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RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

Nature Genetics, 2014, Vol.46(2), p.116 [Peer Reviewed Journal]

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7
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Nature Genetics, May 2009, pp.521-3 [Peer Reviewed Journal]

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8
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

Nature genetics, May 2009, Vol.41(5), pp.521-523 [Peer Reviewed Journal]

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9
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Nature Genetics, Jun 2008, pp.776-81 [Peer Reviewed Journal]

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10
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Nature genetics, June 2008, Vol.40(6), pp.776-81 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Menzies, Andrew
  2. O'Meara, Sarah
  3. Butler, Adam
  4. Jones, David
  5. Widaa, Sara

on this subject:

  1. Humans
  2. Biology
  3. Mutation
  4. DNA Copy Number Variations
  5. Gene Mutation

All text is © British Library Board and is available under a Creative Commons Attribution Licence, except where otherwise stated.

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