Publications by Dr Sally Lynch - ePrints

Browsing publications by Dr Sally Lynch.

Newcastle Authors	Title	Year
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
Dr Brian Wilson Dr Simon Zwolinski Dr Laura Yates Dr Sally Lynch	Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay	2015
Dr Sally Lynch Alison Ross	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling	2015
Dr Sally Lynch Dr Miranda Splitt	Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype	2013
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
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
Dr Sally Lynch	Adults with Down's sydrome: The prevalence of complications and health care in the community	2007
Dr Ross Henderson Michael Clarke Dr Sally Lynch	Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia	2007
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
Dr Andrea Myers Dr Lesley Kay Dr Sally Lynch Dr David Walker	Recurrence risk for psoriasis and psoriatic arthritis within sibships	2005
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
Peter Hodgkinson Dr Sally Lynch	Audit of the effectiveness of genetic counselling in a cleft clinic setting	2004
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
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
Professor Muzlifah Haniffa Dr Suzy Leech Dr Sally Lynch Dr Nicholas Simpson	NBCCS secondary to an interstitial chromosome 9q deletion	2004
Dr Sally Lynch	Patient letters from the genetics clinic: how good are they?	2004
Dr Sally Lynch	Who supports the support workers? Cross-sectional survey of support workers' experience and views	2004
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
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
Dr Katherine Eastham Dr Sally Lynch	Clinical and molecular genetics of ARC syndrome	2003
Dr Sally Lynch Dr Ann Curtis	Development of diagnostic strategy for analysis of the MNX1 gene in patients with Currarino syndrome	2003
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
Professor Caroline Relton Dr Sally Lynch	Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype	2003
Dr Sally Lynch Dr Vankateswara Ramesh Professor Sunil Sinha	Male neonatal encephalopathy and the MECP2 gene	2003
Dr Sally Lynch Michael Clarke	Microphthalmia associated with neurofibromatosis 1 and PAX6 mutation	2003
Dr Elizabeth Jones Dr Simon Zwolinski Dr Sally Lynch Dr Michael Wright	Characterisation of a family with an interstitial 11p duplication	2002
Dr Anne Lampe Dr Sally Lynch	Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma	2002
Dr Sally Lynch Dr Margaret Jackson	Prospective study of development of infants born to mothers with epilepsy	2002
Dr Sally Lynch Dr David Robbins	Terahertz intersubband emission from silicon-germanium quantum cascades	2002
Dr Sally Lynch	Who supports the support workers? A study examining the problems experienced by workers in patient led groups	2002
Dr Katherine Eastham Dr Jonathan Wyllie Dr Sally Lynch Dr Andrew Morris	ARC syndrome: An expanding range of phenotypes	2001
Dr Anne Lampe Dr Sally Lynch	Rhabdomyosarcoma in familial Neurofibromatosis type 1 secondary to deletion of the gene	2001
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
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
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
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
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
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
Dr Sally Lynch Dr Keith Hall	Two further cases of Sener syndrome: Frontonasal dysplasia and dilated Virchow-Robin spaces	2000
Dr Fiona Douglas Dr Sally Lynch	The accuracy of diagnoses as reported in families with cancer: A retrospective study	1999
Dr Fiona Douglas Dr Sally Lynch	The accuracy of diagnoses as reported in families with cancer: a retrospective study	1999
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