Sarah Rickard

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Bärbel Dittrich, Karin Buiting, Bernd Korn et al. · Nature Genetics · 1996 · 257 citations

Chromatin, Transcriptional Regulation, Developmental Biology +9

Investigation of <i>UBE3A</i> and <i>MECP2</i> in Angelman syndrome (AS) and patients with features of AS

Megan P. Hitchins, Sarah Rickard, Fatima Dhalla et al. · American Journal of Medical Genetics Part A · 2003 · 105 citations

Clinical Disorders, Mendelian Disorder, Psychiatry +14

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

Mark Houseman, Lucy Ellis, Alistair T. Pagnamenta et al. · Journal of Medical Genetics · 2001 · 84 citations · Full text

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1 : molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

Sarah Rickard, William van’t Hoff, Angela Barnicoat et al. · Human Genetics · 2001 · 61 citations

Mendelian Disorder, Genetic Disorder, Bor Syndrome +7

Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA

Sarah Rickard, Louise C. Wilson · The American Journal of Human Genetics · 2003 · 36 citations · Full text

Genetic Disorder, Genetics, Overlapping Transcripts +9