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List of works by Sally Ann Lynch

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

scientific article published on 04 November 2020

Case report: Unusual dental morphology in a child with ankyioblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome ⬇️

scientific article published on August 1, 2011

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome ⬇️

scientific article published on April 1, 2012

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal? ⬇️

scientific article published on January 14, 2013

Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?

scientific article published on 29 October 2020

Ocular abnormalities in a patient with partial deletion of chromosome 6p: A case report ⬇️

scientific article published on 01 September 1997

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2 ⬇️

scientific article published on May 1, 2003

Stickler's syndrome associated with congenital glaucoma ⬇️

scientific article published on March 1, 1998

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases ⬇️

scientific article published on June 18, 2012

Variant late‐infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion ⬇️

scientific article published on December 28, 2011

What price a diagnosis? ⬇️

scientific article published on August 16, 2011

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