Adam Ameur

About Adam Ameur

Adam Ameur, With an exceptional h-index of 38 and a recent h-index of 30 (since 2020), a distinguished researcher at Uppsala Universitet, specializes in the field of Computational Biology, Genomics, Transcriptomics.

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

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

Medically relevant tandem repeats in nanopore sequencing of control cohorts

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

Copy number variations and their effect on the plasma proteome

Complete Mitochondrial DNA Genome Variation in the Swedish Population

Adam Ameur Information

University

Position

Associate Professor SciLifeLab/ Sweden

Citations(all)

11185

Citations(since 2020)

4173

Cited By

8695

hIndex(all)

38

hIndex(since 2020)

30

i10Index(all)

70

i10Index(since 2020)

60

Email

University Profile Page

Google Scholar

Adam Ameur Skills & Research Interests

Computational Biology

Genomics

Transcriptomics

Top articles of Adam Ameur

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

2024/4/24

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

Scientific Reports

2024/4/18

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European Journal of Human Genetics

2024/3

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

The American Journal of Human Genetics

2024/1/4

Medically relevant tandem repeats in nanopore sequencing of control cohorts

medRxiv

2024

Adam Ameur
Adam Ameur

H-Index: 25

Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements

medRxiv

2023/12/17

Copy number variations and their effect on the plasma proteome

Genetics

2023/12

Complete Mitochondrial DNA Genome Variation in the Swedish Population

Genes

2023/10/25

Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH

BMC Research Notes

2023/10/10

The long non-coding RNA LINC00707 interacts with Smad proteins to regulate TGFβ signaling and cancer cell invasion

Cell Communication and Signaling

2023/10/2

Adam Ameur
Adam Ameur

H-Index: 25

Laia Caja
Laia Caja

H-Index: 19

Long-read whole-genome analysis of human single cells

Nature Communications

2023/8/24

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

Scientific reports

2023/8/8

Transposable element insertions in 1000 Swedish individuals

Plos one

2023/7/28

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots

Human Mutation

2023/5/9

Adam Ameur
Adam Ameur

H-Index: 25

Marc Muller
Marc Muller

H-Index: 11

A complete digital karyotype of the B-cell leukemia REH cell line resolved by long-read sequencing

bioRxiv

2023/3/10

T2T-CHM13 improves read mapping and detection of clinically relevant variation

2023

Kita crispants for systematic image-based genetic screens of complex traits in zebrafish larvae

bioRxiv

2023

Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas

Neuro-oncology

2023/1/1

Matko Čančer
Matko Čančer

H-Index: 5

Adam Ameur
Adam Ameur

H-Index: 25

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Cancer Informatics

2022/7

See List of Professors in Adam Ameur University(Uppsala Universitet)