Concepedia

Júlia Baptista

JB

36

Publications

1.5K

Citations

22

H-Index

2005

Active since

Affiliations

Royal Devon & Exeter NHS Foundation Trust(Current)

University of Exeter

University of Plymouth

Genomics (United Kingdom)

Inserm

Júlia Baptista is an author at Royal Devon & Exeter NHS Foundation Trust specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2005–2023

36

Publications

36

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

Júlia Baptista, Catherine Mercer, Elena Prigmore et al. · The American Journal of Human Genetics · 2008 · 237 citations · Full text

, , +1

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

Magdalena Laugsch, Michaela Bartusel, Rizwan Rehimi et al. · Cell stem cell · 2019 · 117 citations · Full text

, , +9

De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age

N. Simon Thomas, Joan K. Morris, Júlia Baptista et al. · Journal of Medical Genetics · 2009 · 109 citations · Full text

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

Karen Stals, Matthew N. Wakeling, Júlia Baptista et al. · Prenatal Diagnosis · 2017 · 76 citations · Full text

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Nicole J. Van Bergen, Yiran Guo, Julia Rankin et al. · Brain · 2018 · 70 citations · Full text

, , +21

Rows per page

1–5 of 36