Experts and Doctors on pedigree in Newcastle upon Tyne, England, United Kingdom


Locale: Newcastle upon Tyne, England, United Kingdom
Topic: pedigree

Top Publications

  1. Dang T, Willet J, Griffin H, Morgan N, O Boyle G, Arkwright P, et al. Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. J Clin Immunol. 2016;36:117-22 pubmed publisher
  2. Wilson I, Carling P, Alston C, Floros V, Pyle A, Hudson G, et al. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Hum Mol Genet. 2016;25:1031-41 pubmed publisher
  3. Low W, Junna M, Börjesson Hanson A, Morris C, Moss T, Stevens D, et al. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain. 2007;130:357-67 pubmed
  4. Henderson R, Williamson K, Cumming S, Clarke M, Lynch S, Hanson I, et al. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet. 2007;15:898-901 pubmed
    ..This case shows that patients with complex phenotypes should not be eliminated from subsequent mutation analysis after one or even two mutations are found. ..
  5. Wilson B, Jensen S, McAnulty C, Brennan P, Handford P. Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1. Am J Med Genet A. 2013;161A:2047-51 pubmed publisher
  6. Horvath R, Holinski Feder E, Neeve V, Pyle A, Griffin H, Ashok D, et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 2012;27:789-93 pubmed publisher
  7. Ruiz Perez V, Ide S, Strom T, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000;24:283-6 pubmed
    ..We suggest that EvC and Weyers acrodental dysostosis are allelic conditions...
  8. Grau C, Starkovich M, Azamian M, Xia F, Cheung S, Evans P, et al. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS ONE. 2017;12:e0175962 pubmed publisher
    ..Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions. ..
  9. Cantor R, Cordell H. Gene expression in large pedigrees: analytic approaches. BMC Genet. 2016;17 Suppl 2:3 pubmed publisher
    ..Pedigrees can be used to conduct analyses of and enhance gene expression studies. ..

More Information


  1. Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, et al. SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf). 2016;84:715-9 pubmed publisher
    ..3254dup) in one of the 3 additional index patients. Our results demonstrate the existence of pure mucosal neuroma syndrome as a clinical entity distinct from MEN2B that can now be diagnosed by genetic testing. ..
  2. Palmio J, Evilä A, Bashir A, Norwood F, Viitaniemi K, Vihola A, et al. Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. J Neurol Neurosurg Psychiatry. 2016;87:448-50 pubmed publisher
  3. Thomas S, Cantagrel V, Mariani L, Serre V, Lee J, Elkhartoufi N, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet. 2015;23:621-7 pubmed publisher
    ..Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. ..
  4. Sarkozy A, Windpassinger C, Hudson J, Dougan C, Lecky B, Hilton Jones D, et al. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet. 2011;19:1038-44 pubmed publisher
  5. Bauer R, Hudson J, Müller H, Sommer C, Dekomien G, Bourke J, et al. Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?. Eur J Hum Genet. 2009;17:1148-53 pubmed publisher
  6. Hudson G, Amati Bonneau P, Blakely E, Stewart J, He L, Schaefer A, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008;131:329-37 pubmed
    ..This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA. ..
  7. Garcia C, Blair H, Seager M, Coulthard A, Tennant S, Buddles M, et al. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. J Med Genet. 2004;41:183-6 pubmed
    ..Synapsin I is a synaptic vesicle associated protein involved in the regulation of synaptogenesis and neurotransmitter release. The SYN1 nonsense mutation that was identified is the likely cause of the phenotype in this family. ..
  8. Deschauer M, Kiefer R, Blakely E, He L, Zierz S, Turnbull D, et al. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord. 2003;13:568-72 pubmed
  9. Ruiz Perez V, Tompson S, Blair H, Espinoza Valdez C, Lapunzina P, Silva E, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003;72:728-32 pubmed
    ..These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable...
  10. McFarland R, Clark K, Morris A, Taylor R, MacPhail S, Lightowlers R, et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nat Genet. 2002;30:145-6 pubmed
    ..The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease...
  11. Curtis A, Fey C, Morris C, Bindoff L, Ince P, Chinnery P, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28:350-4 pubmed
    ..An abnormality in ferritin strongly indicates a primary function for iron in the pathogenesis of this new disease, for which we propose the name 'neuroferritinopathy'. ..
  12. Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am J Hum Genet. 2000;67:498-503 pubmed
    ..72. All five affected individuals were homozygous for the same allele, for two adjacent polymorphic markers within the region segregating with the disease, narrowing the region to 12 cM. ..
  13. Ng W, von Delwig A, Carmichael A, Arkwright P, Abinun M, Cant A, et al. Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Allergy Clin Immunol. 2010;126:1006-15, 1015.e1-4 pubmed publisher
    ..Understanding immune defects in patients with CMC will define cellular and molecular mechanisms crucial for protection against Candida species in human subjects...
  14. de Greef J, Wang J, Balog J, den Dunnen J, Frants R, Straasheijm K, et al. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet. 2011;88:796-804 pubmed publisher
  15. Horvath R, Kemp J, Tuppen H, Hudson G, Oldfors A, Marie S, et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009;132:3165-74 pubmed publisher
    ..This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis. ..
  16. Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, et al. Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization. J Neurogenet. 2013;27:176-82 pubmed publisher
  17. Deeb A, Abood S, Simon J, Dastoor H, Pearce S, Sayer J. A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. BMC Res Notes. 2013;6:527 pubmed publisher
  18. Keen T, Inglehearn C, Lester D, Bashir R, Jay M, Bird A, et al. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics. 1991;11:199-205 pubmed
    ..This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP. ..