Dr Marta Bertoli Dr Ana Topf Dr Lizzie Harris Dr Steven Laval Dr Anna Sarkozy et al. | A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism | 2015 |
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Dr Brian Wilson Dr Simon Zwolinski Dr Laura Yates Dr Sally Lynch
| Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay | 2015 |
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Dr Sally Lynch Alison Ross
| Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | 2015 |
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Dr Sally Lynch Dr Miranda Splitt
| Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype | 2013 |
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Dr Sally Lynch Professor Judith Goodship Dr Michael Wright Dr Richard Fisher
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum | 2012 |
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Professor Timothy Cheetham Dr Jonathan Wyllie Dr Sally Lynch Dr Simon Zwolinski Lynn Prescott et al. | 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH | 2008 |
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Dr Sally Lynch
| Adults with Down's sydrome: The prevalence of complications and health care in the community | 2007 |
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Dr Ross Henderson Michael Clarke Dr Sally Lynch
| Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia | 2007 |
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Dr Sally Lynch Sandra Lodge
| Healthcare of adults with Down's syndrome: prevalence of complications and review of medical care in a community setting | 2005 |
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Dr Andrea Myers Dr Lesley Kay Dr Sally Lynch Dr David Walker
| Recurrence risk for psoriasis and psoriatic arthritis within sibships | 2005 |
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Professor John Bond Mark Barrow Dr Sally Lynch Merajuddin Ahmed Geoffrey Taylor et al. | The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy | 2005 |
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Peter Hodgkinson Dr Sally Lynch
| Audit of the effectiveness of genetic counselling in a cleft clinic setting | 2004 |
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Professor Caroline Relton Professor Mark Pearce James Laffey Dr Sally Lynch Professor Sir John Burn et al. | Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population | 2004 |
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Dr Andrew Morris Dr Sally Lynch
| Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome | 2004 |
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Professor Muzlifah Haniffa Dr Suzy Leech Dr Sally Lynch Dr Nicholas Simpson
| NBCCS secondary to an interstitial chromosome 9q deletion | 2004 |
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Dr Sally Lynch
| Patient letters from the genetics clinic: how good are they? | 2004 |
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Dr Sally Lynch
| Who supports the support workers? Cross-sectional survey of support workers' experience and views | 2004 |
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Dr Suzy Leech Dr Aileen Taylor Dr Vankateswara Ramesh Dr Daniel Birchall Dr Sally Lynch et al. | Widespread capillary malformation associated with global developmental delay and megalencephaly | 2004 |
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Dr Hazel Powell Dr Sally Lynch Emeritus Professor David Bates Dr Ann Curtis
| A deletion within the frataxin gene, combined with a GAA expansion mutation causes atypical Friedreich ataxia | 2003 |
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Dr Katherine Eastham Dr Sally Lynch
| Clinical and molecular genetics of ARC syndrome | 2003 |
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Dr Sally Lynch Dr Ann Curtis
| Development of diagnostic strategy for analysis of the MNX1 gene in patients with Currarino syndrome | 2003 |
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Dr Sally Lynch
| Disruption and aberrant expression of CLCN5 in lymphocytes from a patient with a balanced translocation, 46,X,t(X;3)(p11.2;q13.2) and profound intellectual disability | 2003 |
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Professor Caroline Relton Dr Sally Lynch
| Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype | 2003 |
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Dr Sally Lynch Dr Vankateswara Ramesh Professor Sunil Sinha
| Male neonatal encephalopathy and the MECP2 gene | 2003 |
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Dr Sally Lynch Michael Clarke
| Microphthalmia associated with neurofibromatosis 1 and PAX6 mutation | 2003 |
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Dr Elizabeth Jones Dr Simon Zwolinski Dr Sally Lynch Dr Michael Wright
| Characterisation of a family with an interstitial 11p duplication | 2002 |
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Dr Anne Lampe Dr Sally Lynch
| Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma | 2002 |
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Dr Sally Lynch Dr Margaret Jackson
| Prospective study of development of infants born to mothers with epilepsy | 2002 |
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Dr Sally Lynch Dr David Robbins
| Terahertz intersubband emission from silicon-germanium quantum cascades | 2002 |
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Dr Sally Lynch
| Who supports the support workers? A study examining the problems experienced by workers in patient led groups | 2002 |
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Dr Katherine Eastham Dr Jonathan Wyllie Dr Sally Lynch Dr Andrew Morris
| ARC syndrome: An expanding range of phenotypes | 2001 |
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Dr Anne Lampe Dr Sally Lynch
| Rhabdomyosarcoma in familial Neurofibromatosis type 1 secondary to deletion of the gene | 2001 |
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Dr Laura Yates Ian Cross Judith Brummitt Dr Sally Lynch
| Short stature, asymmetry and limitation of movement at the elbow in a patient with a mosaic marker karyotype resulting in partial trisomy 8q24-qter | 2001 |
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Dr Sally Lynch Unni Wariyar OBE
| A prospective, population based study of developmental delay and craniofacial dysmorphism in children born to women with epilepsy | 2000 |
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Dr Sally Lynch Ying Wang Professor Tom Strachan Professor Sir John Burn Emerita Professor Susan Lindsay et al. | Autosomal dominant sacral agenesis: Currarino syndrome | 2000 |
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Dr Sally Lynch
| Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location | 2000 |
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Dr Donna Hagan Alison Ross Professor Tom Strachan Dr Sally Lynch Dr Victor Ruiz-Perez et al. | Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene | 2000 |
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Dr Margaret Jackson Dr David Walshaw Dr Kathleen White Dr Tara Montgomery Professor Sir John Burn et al. | Population based, prospective study of the care of women with epilepsy in pregnancy | 2000 |
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Dr Sally Lynch Dr Keith Hall
| Two further cases of Sener syndrome: Frontonasal dysplasia and dilated Virchow-Robin spaces | 2000 |
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Dr Fiona Douglas Dr Sally Lynch
| The accuracy of diagnoses as reported in families with cancer: A retrospective study | 1999 |
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Dr Fiona Douglas Dr Sally Lynch
| The accuracy of diagnoses as reported in families with cancer: a retrospective study | 1999 |
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Dr Victor Ruiz-Perez Dr Donna Hagan Dr Sally Lynch Emerita Professor Susan Lindsay Dr David Wilson et al. | A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis | 1998 |
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