Vanesa Lerma
Baylor College of Medicine
H-index: 3
North America-United States
Top articles of Vanesa Lerma
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics
2024/1/4
Monika Weisz-Hubshman
H-Index: 11
Nasim Bekheirnia
H-Index: 3
Matias Wagner
H-Index: 12
Laina Lusk
H-Index: 5
Annapurna Poduri
H-Index: 44
Reza Maroofian
H-Index: 16
Matthew Osmond
H-Index: 8
Laura Amendola
H-Index: 22
Guney Bademci
H-Index: 20
Dustin Baldridge
H-Index: 13
Michael Bamshad
H-Index: 61
Elizabeth Blue
H-Index: 16
William E Byrd
H-Index: 9
John Carey
H-Index: 6
Hsiao-Tuan Chao
H-Index: 18
Michael Cunningham
H-Index: 23
Daniel Doherty
H-Index: 15
Irman Forghani
H-Index: 7
Rizwan Hamid
H-Index: 28
Frances High
H-Index: 20
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy
medRxiv
2023/3/29
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and …
2023/6
Neurofunctional and neuroanatomical markers of EBF3-related neurodevelopmental disorder
2022/10/1
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain
Annals of Neurology
2022/7
Brain–immune interactions as the basis of Gulf War Illness: Clinical assessment and deployment profile of 1990–1991 Gulf War veterans in the Gulf War Illness consortium (GWIC …
Brain sciences
2021/8/26
Integrated deep phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships (2850)
2021/4/13
Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships
medRxiv
2020/12/8