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Author/Creator Boustred, Christopher

1. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation. Issue 7 (3rd April 2014)

Authors:
Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, Robert; Lench, Nicholas; Chitty, Lyn S.; Scott, Richard H.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1777
Record Type:
Journal Article
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3. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Issue 2 (8th August 2017)

Authors:
Shoemark, Amelia; Moya, Eduardo; Hirst, Robert A; Patel, Mitali P; Robson, Evelyn A; Hayward, Jane; Scully, Juliet; Fassad, Mahmoud R; Lamb, William; Schmidts, Miriam; Dixon, Mellisa; Patel-King, Ramila S; Rogers, Andrew V; Rutman, Andrew; Jackson, Claire L; Goggin, Patricia; Rubbo, Bruna; Olloss...
Journal:
Thorax
Issue:
Volume 73:Issue 2(2018)
Page Start:
157
Record Type:
Journal Article
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4. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Issue 5 (18th March 2016)

Authors:
Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 5(2016)
Page Start:
310
Record Type:
Journal Article
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6. Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC). (May 2017)

Authors:
Futema, Marta; Cooper, Jackie A.; Charakida, Marietta; Boustred, Christopher; Sattar, Naveed; Deanfield, John; Lawlor, Debbie A.; Timpson, Nicholas J.; Humphries, Steve E.; Hingorani, Aroon D.
Journal:
Atherosclerosis
Issue:
Volume 260(2017)
Page Start:
47
Record Type:
Journal Article
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