Genomes and Genes
Affiliation: Manchester Royal Infirmary
- How clinicians add to knowledge of developmentDian Donnai
University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, M13 0JH, Manchester, UK
Lancet 362:477-84. 2003..Often, clinical studies identify a gene, or suggest a hypothesis, that can then be investigated in animals...
- Professor Robin Michael Winter 1950-2004: An appreciationDian Donnai
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital, Manchester, United Kingdom
Am J Med Genet A 128:107-9. 2004
- Kohlschutter syndrome in siblingsD Donnai
Academic Unit of Medical Genetics, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 14:123-6. 2005..We report a new family with two affected siblings...
- What process attributes of clinical genetics services could maximise patient benefits?Marion McAllister
The Nowgen Centre for Genetics in Healthcare, Manchester, UK
Eur J Hum Genet 16:1467-76. 2008..These findings will be useful in designing models of service delivery that could be tested in intervention studies...
- The emotional effects of genetic diseases: implications for clinical geneticsMarion McAllister
Nowgen, The North West Genetics Knowledge Park, Manchester, UK
Am J Med Genet A 143:2651-61. 2007..Interventions designed to (1) adjust the modifying conditions and (2) help manage the emotional effects may facilitate adjustment and improve patient outcomes...
- Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright
Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary s Hospital, Manchester, UK
Am J Med Genet A 155:2203-11. 2011....
- Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' viewsKatherine Payne
The North West Genetics Knowledge Park NOWGEN, Manchester, UK
Health Policy 84:112-22. 2007..To explore genetics professionals' and patients' views about which outcome domains are most appropriate to measure the patient benefits of using a clinical genetics service...
- Outcome measurement in clinical genetics services: a systematic review of validated measuresKatherine Payne
Nowgen, The North West Genetics Knowledge Park, Manchester, UK
Value Health 11:497-508. 2008..This systematic review aimed to inform researchers and policymakers about what validated outcome measures are available to evaluate clinical genetics services (CGS) and the need for new measures...
- Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka
Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre MAHSC, Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK
Ann Rheum Dis 74:1249-56. 2015..Scleroderma-like skin thickening can be seen in some individuals with LP. We undertook a study to characterise the phenotype of LP and identify its genetic basis...
- How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka
Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
Eur J Hum Genet 20:381-8. 2012..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith
Medical Genetics Research Group and Regional Genetics Service, St Mary s Hospital, Manchester, UK
Eur J Hum Genet 17:434-43. 2009..We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families...
- Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
Am J Hum Genet 89:675-81. 2011..This is a further example of how perturbation of a protein involved in chromatin modification might give rise to a multisystem developmental disorder...
- Mutations in HPSE2 cause urofacial syndromeSarah B Daly
Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, School of Biomedicine, University of Manchester, Manchester M13 9WL, UK
Am J Hum Genet 86:963-9. 2010..Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction...
- A familial dysmorphic condition with hypotonia, seizures and precocious pubertyAudrey Smith
Academic Unit of Medical Genetics and Regional Genetic Service, University of Manchester, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 17:161-4. 2008..Autosomal recessive inheritance is a possibility given that three siblings of both sexes are affected...
- Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3Siddharth Banka
Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, St Mary s Hospital, Manchester, UK
Eur J Hum Genet 19:18-22. 2011..Delineation of the SCN4 phenotype may help in appropriate treatment and management and provide further insights into the pathogenesis of this multisystem disease...
- What can be offered to couples at (possibly) increased genetic risk?Andrew P Read
Department of Genetic Medicine, St Mary s Hospital, Manchester, M13 0JH, UK
J Community Genet 3:167-74. 2012....
- Improving service evaluation in clinical genetics: identifying effects of genetic diseases on individuals and familiesMarion McAllister
Nowgen, The North West Genetics Knowledge Park, Manchester, United Kingdom
J Genet Couns 16:71-83. 2007..These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services...
- Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson
Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK
Am J Hum Genet 89:148-53. 2011..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
- Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6Kay Metcalfe
Academic Unit of Medical Genetics and Regional Genetics Service, The University of Manchester, St Mary s Hospital, Manchester, UK
Clin Dysmorphol 14:61-5. 2005....
- Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndromeHannah J Tipney
University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
Eur J Hum Genet 12:551-60. 2004..Deletion mapping studies using somatic cell hybrids show that some WBS patients are hemizygous for this gene, suggesting that it could play a role in the pathogenesis of the disorder...
- GTF2IRD1 in craniofacial development of humans and miceMay Tassabehji
Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
Science 310:1184-7. 2005..We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders...
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Simches Research Building, 185 Cambridge St, Boston, Massachusetts 02114 USA
Nat Genet 39:957-9. 2007..LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets...
- Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson
Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, Australia
Am J Med Genet A 119:257-65. 2003....
- Symptomatic Chiari I malformation in Kabuki syndromeKaren L Ciprero
Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 132:273-5. 2005..Thus, we suggest that Chiari type I be considered in patients with Kabuki syndrome who present with persistent headache, neck pain, or other symptoms suggestive of Chiari I anomaly...
- Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomySibel Kantarci
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet A 146:1842-7. 2008..This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders...
- 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt
Department of Medical Genetics, Addenbrooke s Hospital, University of Cambridge, Cambridge, United Kingdom
Am J Hum Genet 77:154-60. 2005..The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome...
- Sotos syndrome: two cases with severe scoliosisElizabeth Sweeney
Merseyside and Cheshire Clinical Genetic Service, Royal Liverpool Children s Hospital, Liverpool, UK
Clin Dysmorphol 11:121-4. 2002..Two patients with Sotos syndrome who developed a severe scoliosis are described. These cases illustrate the potential to develop significant spinal curvature in Sotos syndrome...
- Discriminating power of localized three-dimensional facial morphologyPeter Hammond
Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
Am J Hum Genet 77:999-1010. 2005....
- Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language developmentMay Tassabehji
Eur J Hum Genet 14:507-8. 2006
- Dysmorphology demystifiedWilliam Reardon
National Centre for Medical Genetics, Our Lady s Hospital for Sick Children, Crumlin, Dublin 12
Arch Dis Child Fetal Neonatal Ed 92:F225-9. 2007
- Molecular study of 33 families with Fraser syndrome new data and mutation reviewM M van Haelst
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Med Genet A 146:2252-7. 2008..Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well...
- A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defectsJune M de la Cruz
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10 Room 10C103, Bethesda, MD 20892 1852, USA
Hum Genet 110:422-8. 2002..The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development...
- RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesityDagan Jenkins
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Am J Hum Genet 80:1162-70. 2007....
- Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCORDavid Ng
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 36:411-6. 2004....
- Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic formsHelen Cox
Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, United Kingdom
Am J Med Genet 109:306-10. 2002..In addition, as earlier case reports all describe the phenotype associated with non-mosaic partial 7p trisomy, the current observations amount to clear evidence that mosaicism attenuates the phenotype of this rearrangement...