Lettie E Rawlins
7PUBLICATIONS
34CO-AUTHORS
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Publications (7)
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|Jul 27, 2025
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.Zantasha Khalid, Matthew Adams, Anees Muhammad
|Mar 14, 2025
Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype-Phenotype Correlation.Ethan M Scott, Olivia K Wenger, Matthew Adams
|Mar 04, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.Reham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna
|Jul 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade
|Jun 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian
|Mar 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.Lettie E Rawlins, Hashem Almousa, Shazia Khan
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Frequent Collaborators
6 joint publications
Emma L Baple
4 joint publications
Joseph S Leslie
4 joint publications
Andrew H Crosby
2 joint publications
Ethan Scott
2 joint publications
Binnaz Yalcin
1 joint publications
Olivia Wenger
1 joint publications
Tom Herr
1 joint publications
Joanna Kennedy
1 joint publications
Barry A Chioza
1 joint publications
Shamim Saleha
