Sally Ann Lynch
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
2015/07/30 by Lot Snijders Blok, Lot Snijders Blok, Erik Madsen +123 · 30 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities #Congenital heart defects research
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily Mountier, Emily I. Mountier +354 · 29 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
1995/03/01 by Sally Ann Lynch, K A Ashcroft, Simon Zwolinski +2 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases #Genetic Syndromes and Imprinting
- ANKRD11 variants: KBG syndrome and beyond
2021/05/06 by Ilaria Parenti, Mark Mallozzi, Mark B. Mallozzi +41 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Hedgehog Signaling Pathway Studies
- DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
2020/04/02 by Sanaa Choufani, William T. Gibson, Andrei L. Turinsky +41 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #RNA modifications and cancer #Genetic Syndromes and Imprinting
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022/04/01 by Sarah E.M. Stephenson, Sarah Stephenson, Gregory Costain +127 · 20 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways