H
Helen Griffin
Researcher at Newcastle University
Publications - 81
Citations - 3650
Helen Griffin is an academic researcher from Newcastle University. The author has contributed to research in topics: Exome sequencing & Mitochondrial DNA. The author has an hindex of 32, co-authored 76 publications receiving 3016 citations. Previous affiliations of Helen Griffin include North Bristol NHS Trust & Royal Victoria Infirmary.
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Journal ArticleDOI
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
Rachel E. Dickinson,Helen Griffin,Venetia Bigley,Louise N. Reynard,Rafiqul Hussain,Muzlifah Haniffa,Jeremy H. Lakey,Thahira Rahman,Xiao-Nong Wang,Naomi McGovern,Sarah Pagan,Sharon Cookson,David McDonald,Ignatius Chua,Jonathan Wallis,Andrew J. Cant,Michael Wright,Michael Wright,Bernard Keavney,Patrick F. Chinnery,John Loughlin,Sophie Hambleton,Mauro Santibanez-Koref,Matthew Collin +23 more
TL;DR: Because GATA2 is the only common mutated gene in 4 unrelated persons, it is highly probable to be the cause of dendritic cell, monocyte, B, and natural killer lymphoid deficiency and constitutes a new genetic form of heritable immunodeficiency and leukemic transformation.
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Robert W. Taylor,Angela Pyle,Helen Griffin,Emma L. Blakely,Jennifer Duff,Langping He,Tania Smertenko,Charlotte L. Alston,Vivienne C.M. Neeve,Andrew Best,John W. Yarham,Janbernd Kirschner,Ulrike Schara,Beril Talim,Haluk Topaloglu,Ivo Barić,Elke Holinski-Feder,Angela Abicht,Birgit Czermin,Stephanie Kleinle,Andrew A. M. Morris,Grace Vassallo,Grainne S. Gorman,Venkateswaran Ramesh,Douglass M. Turnbull,Mauro Santibanez-Koref,Robert McFarland,Rita Horvath,Patrick F. Chinnery +28 more
TL;DR: Exome sequencing enhances the ability to identify potential nuclear gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes.
Journal ArticleDOI
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Gerald Pfeffer,Grainne S. Gorman,Helen Griffin,Marzena Kurzawa-Akanbi,Emma L. Blakely,Ian J. Wilson,Kamil S. Sitarz,David Moore,J.L. Murphy,Charlotte L. Alston,Angela Pyle,Jon Coxhead,Brendan A I Payne,George Gorrie,Cheryl Longman,Marios Hadjivassiliou,John McConville,David Dick,Ibrahim Imam,David Hilton,Fiona Norwood,Mark R. Baker,Stephan R. Jaiser,Patrick Yu-Wai-Man,Patrick Yu-Wai-Man,Michael A. Farrell,Allan McCarthy,Timothy Lynch,Robert McFarland,Andrew M. Schaefer,Douglass M. Turnbull,Rita Horvath,Robert W. Taylor,Patrick F. Chinnery +33 more
TL;DR: Using exome sequencing, Pfeffer et al. identify mutations in SPG7 as an important cause of PEO associated with spasticity and ataxia, and uncover evidence of disordered mtDNA maintenance in patients.
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Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle,Tania Smertenko,David Bargiela,Helen Griffin,Jennifer Duff,Marie Appleton,Konstantinos Douroudis,Gerald Pfeffer,Mauro Santibanez-Koref,Gail Eglon,Patrick Yu-Wai-Man,Venkateswaran Ramesh,Rita Horvath,Patrick F. Chinnery +13 more
TL;DR: In this article, the authors used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected families of white European descent, and defined the likely molecular diagnosis in 14 of 22 families (64%).
Journal ArticleDOI
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Veronika Boczonadi,Juliane S. Müller,Angela Pyle,Jennifer Munkley,Talya Dor,Jade Quartararo,Ileana Ferrero,Veronika Karcagi,Michele Giunta,Tuomo Polvikoski,D Birchall,Agota Princzinger,Yuval Cinnamon,Susanne Lützkendorf,Henriett Pikó,Mojgan Reza,Laura Florez,Mauro Santibanez-Koref,Helen Griffin,Markus Schuelke,Orly Elpeleg,Luba Kalaydjieva,Hanns Lochmüller,David J. Elliott,Patrick F. Chinnery,Shimon Edvardson,Rita Horvath +26 more
TL;DR: It is shown that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees, showing the central role of the exosomal pathway in neurodegenerative disease.