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Júlia Baptista | Researchclopedia

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Júlia Baptista

Royal Devon & Exeter NHS Foundation Trust ORCID

61

Works

2,221

Citations

24

h-index

38

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

Universidade Estadual de Londrina2018–2024

University of Exeter2017–2022

Royal Devon & Exeter NHS Foundation Trust2017–2025

Salisbury District Hospital2005–2009

Phillips Exeter Academy2020–2025

Top Works

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis,Kaitlin E. Samocha,et al.

2020647 citations

RNA modifications and cancer

Prenatal Screening and Diagnostics

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

Júlia Baptista,Catherine Mercer,et al.

2008237 citations

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

Magdalena Laugsch,Michaela Bartusel,et al.

2019117 citations

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,et al.

2009109 citations

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

Karen Stals,Matthew N. Wakeling,et al.

201777 citations

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

Nicole J. Van Bergen,Yiran Guo,et al.

201871 citations

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin,Eugene J. Gardner,et al.

202164 citations

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Saleh Shekari,Stasa Stankovic,et al.

202354 citations

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami,Thi Tuyet Mai Nguyen,et al.

201952 citations