Author
Kenya Medical Research InstituteORCID 0000-0003-4622-0749Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson
The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.
Patricia Kipkemoi, Emily O’Heir, Mutaz Amin…·Elise Robinson
The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.
Patricia Kipkemoi, Heesu Ally Kim, Björn U. Christ…·Elise Robinson
The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.