Lettie E. Rawlins

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 87 citations · Full text

Bioinformatics, Mendelian Disorder, Genetic Disorder +10

A mutation of<i>EPT1 (SELENOI)</i>underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Aisha Al‐Khayat, Fathiya Al-Murshedi, Amna Al‐Futaisi et al. · Brain · 2016 · 77 citations · Full text

Genetics, Spastic Paraparesis, Signaling Pathway +18

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Veronica Ferrucci, Vincenzo Salpietro et al. · Brain · 2017 · 72 citations · Full text

Brain Development, Genetics, Molecular Biology +27

Effect of listening to Nellie the Elephant during CPR training on performance of chest compressions by lay people: randomised crossover trial

Lettie E. Rawlins, Malcolm Woollard, Julia Williams et al. · BMJ · 2009 · 46 citations · Full text

MNS1 variant associated with situs inversus and male infertility

Joseph S. Leslie, Lettie E. Rawlins, Barry A. Chioza et al. · European Journal of Human Genetics · 2019 · 36 citations · Full text