Publications by authors named "Angus Dobbie"

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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P Badrock, Mathieu P Rodero, Angus Dobbie

Nat Genet· December 2020

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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Eveline Boudin, Tjeerd R de Jong, Tim C R Prickett, Bruno Lapauw, Kaatje Toye, Angus Dobbie

Am J Hum Genet· August 2018

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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Hannah Kennedy, Tobias B Haack, Verity Hartill, Lavinija Mataković, E Regula Baumgartner, Angus Dobbie

Am J Hum Genet· September 2016

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
Christopher M Watson, Laura A Crinnion, Ian R Berry, Sally M Harrison, Carolina Lascelles, Angus Dobbie

BMC Med Genet· January 2016

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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Angus Dobbie

Am J Hum Genet· November 2014

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An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.
Verity L Hartill, Carolyn Tysoe, Nigel Manning, Angus Dobbie, Saikat Santra

Am J Med Genet A· April 2014

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The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Rikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, Thomas K Doktor, Henriette S Andersen, Angus Dobbie

Hum Mutat· January 2014

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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
David A Parry, Clare V Logan, Alexander P A Stegmann, Zakia A Abdelhamed, Alistair Calder, Angus Dobbie

Am J Hum Genet· December 2013

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SURF1 deficiency: a multi-centre natural history study.
Yehani Wedatilake, Ruth M Brown, Robert McFarland, Joy Yaplito-Lee, Andrew A M Morris, Angus Dobbie

Orphanet J Rare Dis· July 2013

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Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.
Ian M Carr, Christine P Diggle, Kamron Khan, Chris Inglehearn, Martin McKibbin, Angus Dobbie

PLoS One· March 2013

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Diaphragmatic hernia: a previously unreported association with Sotos syndrome.
Claire Searle, Pronab Bala, Angus Dobbie

Clin Dysmorphol· July 2012

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Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
Ronen Spiegel, Angus Dobbie, Corina Hartman, Liat de Vries, Sian Ellard

Am J Med Genet A· November 2011

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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
Dorothy A Thompson, Sally Feather, Horia C Stanescu, Bernard Freudenthal, Anselm A Zdebik, Angus Dobbie

J Physiol· April 2011

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Detlef Bockenhauer, Sally Feather, Horia C Stanescu, Sascha Bandulik, Anselm A Zdebik, Angus Dobbie

N Engl J Med· May 2009

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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Angus Dobbie

Hum Mutat· April 2009

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Prenatal diagnosis of frontonasal dysplasia using 3D ultrasound.
Edward Johnstone, Tracey Glanville, Judith Pilling, Angus Dobbie

Prenat Diagn· November 2008

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A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.
Louise Chappell, Shaun Gorman, Fiona Campbell, Sian Ellard, Gillian Rice, Angus Dobbie

Am J Med Genet A· July 2008

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Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
Kristen J Nowak, Caroline A Sewry, Carmen Navarro, Waney Squier, Cristina Reina, J Angus Dobbie

Ann Neurol· February 2007

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Mutations in different components of FGF signaling in LADD syndrome.
Edyta Rohmann, Han G Brunner, Hülya Kayserili, Oya Uyguner, Gudrun Nürnberg, Angus Dobbie

Nat Genet· April 2006

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Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?
Emma C Roper, Emma E Hobson, Alan Sprigg, Angus Dobbie, Michael J Parker

Clin Dysmorphol· July 2005

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Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
M Andrew Nesbit, Michael R Bowl, Brian Harding, Asif Ali, Alejandro Ayala, Angus Dobbie

J Biol Chem· May 2004

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Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
Katrien Janssens, Elizabeth Thompson, Filip Vanhoenacker, Ravi Savarirayan, Lloyd Morris, Angus Dobbie

Clin Dysmorphol· October 2003

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Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.
Elizabeth Baker, Lyn Hinton, David F Callen, Meryl Altree, Angus Dobbie

Am J Med Genet· February 2002

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