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Browsing publications by Dr Sally Lynch.

Newcastle AuthorsTitleYearFull text
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 symphalangism2015
Dr Brian Wilson
Dr Simon Zwolinski
Dr Laura Yates
Dr Sally Lynch
Microdeletion 1p35.2: A recognizable facial phenotype with developmental delay2015
Dr Sally Lynch
Alison Ross
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling2015
Dr Sally Lynch
Dr Miranda Splitt
Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype2013
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 spectrum2012
Dr 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 CGH2008
Dr Sally Lynch
Adults with Down's sydrome: The prevalence of complications and health care in the community2007
Dr Ross Henderson
Michael Clarke
Dr Sally Lynch
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia2007
Dr Sally Lynch
Sandra Lodge
Healthcare of adults with Down's syndrome: prevalence of complications and review of medical care in a community setting2005
Dr Andrea Myers
Dr Lesley Kay
Dr Sally Lynch
Dr David Walker
Recurrence risk for psoriasis and psoriatic arthritis within sibships2005
Professor John Bond
Mark Barrow
Dr Sally Lynch
Merajuddin Ahmed
Geoffrey Taylor
et al.
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy2005
Peter Hodgkinson
Dr Sally Lynch
Audit of the effectiveness of genetic counselling in a cleft clinic setting2004
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 population2004
Dr Andrew Morris
Dr Sally Lynch
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome2004
Professor Muzlifah Haniffa
Dr Suzy Leech
Dr Sally Lynch
Dr Nicholas Simpson
NBCCS secondary to an interstitial chromosome 9q deletion2004
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 views2004
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 megalencephaly2004
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 ataxia2003
Dr Katherine Eastham
Dr Sally Lynch
Clinical and molecular genetics of ARC syndrome2003
Dr Sally Lynch
Dr Ann Curtis
Development of diagnostic strategy for analysis of the MNX1 gene in patients with Currarino syndrome2003
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 disability2003
Professor Caroline Relton
Dr Sally Lynch
Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype2003
Dr Sally Lynch
Dr Vankateswara Ramesh
Professor Sunil Sinha
Male neonatal encephalopathy and the MECP2 gene2003
Dr Sally Lynch
Michael Clarke
Microphthalmia associated with neurofibromatosis 1 and PAX6 mutation2003
Dr Elizabeth Jones
Dr Simon Zwolinski
Dr Sally Lynch
Dr Michael Wright
Characterisation of a family with an interstitial 11p duplication2002
Dr Anne Lampe
Dr Sally Lynch
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma2002
Dr Sally Lynch
Dr Margaret Jackson
Prospective study of development of infants born to mothers with epilepsy2002
Dr Sally Lynch
Dr David Robbins
Terahertz intersubband emission from silicon-germanium quantum cascades2002
Dr Sally Lynch
Who supports the support workers? A study examining the problems experienced by workers in patient led groups2002
Dr Katherine Eastham
Dr Jonathan Wyllie
Dr Sally Lynch
Dr Andrew Morris
ARC syndrome: An expanding range of phenotypes2001
Dr Anne Lampe
Dr Sally Lynch
Rhabdomyosarcoma in familial Neurofibromatosis type 1 secondary to deletion of the gene2001
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-qter2001
Dr Sally Lynch
Unni Wariyar OBE
A prospective, population based study of developmental delay and craniofacial dysmorphism in children born to women with epilepsy2000
Dr Sally Lynch
Ying Wang
Professor Tom Strachan
Professor Sir John Burn
Emerita Professor Susan Lindsay
et al.
Autosomal dominant sacral agenesis: Currarino syndrome2000
Dr Sally Lynch
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location2000
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 gene2000
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 pregnancy2000
Dr Sally Lynch
Dr Keith Hall
Two further cases of Sener syndrome: Frontonasal dysplasia and dilated Virchow-Robin spaces2000
Dr Fiona Douglas
Dr Sally Lynch
The accuracy of diagnoses as reported in families with cancer: A retrospective study1999
Dr Fiona Douglas
Dr Sally Lynch
The accuracy of diagnoses as reported in families with cancer: a retrospective study1999
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 agenesis1998