Chelsea Lowther

Chelsea Lowther

Harvard University

H-index: 17

North America-United States

About Chelsea Lowther

Chelsea Lowther, With an exceptional h-index of 17 and a recent h-index of 15 (since 2020), a distinguished researcher at Harvard University, specializes in the field of Human Genetics, Structural variation, Neurogenetics, Genomic medicine.

His recent articles reflect a diverse array of research interests and contributions to the field:

P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

Points to consider in the detection of germline structural variants using next-generation sequencing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

A cross-disorder dosage sensitivity map of the human genome

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Chelsea Lowther Information

University

Position

Postdoctoral Fellow, Massachusetts General Hospital and Broad Institute

Citations(all)

1920

Citations(since 2020)

1630

Cited By

762

hIndex(all)

17

hIndex(since 2020)

15

i10Index(all)

17

i10Index(since 2020)

16

Email

University Profile Page

Google Scholar

Chelsea Lowther Skills & Research Interests

Human Genetics

Structural variation

Neurogenetics

Genomic medicine

Top articles of Chelsea Lowther

P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)

Genetics in Medicine Open

2024/1/1

Chelsea Lowther
Chelsea Lowther

H-Index: 13

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics

2023/9/7

Points to consider in the detection of germline structural variants using next-generation sequencing: a statement of the American College of Medical Genetics and Genomics (ACMG)

2023/2/1

Chelsea Lowther
Chelsea Lowther

H-Index: 13

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The American Journal of Human Genetics

2022/11/3

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

The American Journal of Human Genetics

2021/5/6

See List of Professors in Chelsea Lowther University(Harvard University)