Joseph S Leslie
9PUBLICATIONS
44CO-AUTHORS
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Publications (9)
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|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
|Jul 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.James Fasham, Antje K Huebner, Lutz Liebmann
|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
|Sep 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.Zineb Ammous, Lettie E Rawlins, Hannah Jones
|Aug 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.Claire G Salter, Yiying Cai, Bernice Lo
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Frequent Collaborators
7 joint publications
Emma L Baple
4 joint publications
Lettie E Rawlins
3 joint publications
Andrew H Crosby
2 joint publications
Hashem Almousa
2 joint publications
Henry Houlden
2 joint publications
James Fasham
2 joint publications
Barry A Chioza
2 joint publications
Harold E Cross
2 joint publications
Ethan Scott
1 joint publications
Valeed Khan
