Publications by authors named "Alison Hills"

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A unique triadin exon deletion causing a null phenotype.
Barry M O'Callaghan, Jules C Hancox, Alan G Stuart, Catherine Armstrong, Maggie M Williams, Alison Hills

HeartRhythm Case Rep· November 2018

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A splice-site variant in ANKRD11 associated with classical KBG syndrome.
Karen J Low, Alison Hills, Maggie Williams, Celia Duff-Farrier, Shane McKee

Am J Med Genet A· October 2017

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Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Alison Hills

Nat Genet· May 2017

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Alison Hills

Nat Genet· February 2017

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Clinical and genetic aspects of KBG syndrome.
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alison Hills

Am J Med Genet A· November 2016

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Chloroplast Biogenesis-Associated Nuclear Genes: Control by Plastid Signals Evolved Prior to Their Regulation as Part of Photomorphogenesis.
Alison C Hills, Safina Khan, Enrique López-Juez

Front Plant Sci· December 2015

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Management of fetal hydrops due to maternal antibodies against a low incidence paternal red cell antigen: a novel insight from clinical practice.
Alison Hills, Edwin Massey, Sue Search, Joyce Poole, Stephen W Jones

Fetal Diagn Ther· September 2013

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Quantitative fluorescence PCR analysis of >40,000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X.
Kathy Mann, Alison Hills, Celia Donaghue, Helen Thomas, Caroline Mackie Ogilvie

Prenat Diagn· December 2012

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Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
Andrew E Pink, Michael A Simpson, Nemesha Desai, Dimitra Dafou, Alison Hills

J Invest Dermatol· October 2012

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Screening or selection for chloroplast biogenesis mutants of Arabidopsis, following chemical or insertional mutagenesis.
Enrique López-Juez, Alison Hills

Methods Mol Biol· November 2011

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MLPA for confirmation of array CGH results and determination of inheritance.
Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas, Kathy Mann

Mol Cytogenet· October 2010

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QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region.
Alison Hills, Celia Donaghue, Jonathan Waters, Katie Waters, Caroline Sullivan

Prenat Diagn· June 2010

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Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS.
Jonathan J Waters, Kathy Mann, Lee Grimsley, Caroline Mackie Ogilvie, Celia Donaghue, Alison Hills

Prenat Diagn· April 2007

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Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing.
Kathy Mann, Mariama Kabba, Celia Donaghue, Alison Hills, Caroline Mackie Ogilvie

Prenat Diagn· March 2007

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Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.
Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas, Rajiv Madula, Alison Hills

BMC Med Genet· March 2007

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