Adam Ameur
Uppsala Universitet
H-index: 38
Europe-Sweden
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
Adam Ameur
H-Index: 25
Staffan Persson
H-Index: 45
Hans Ehrencrona
H-Index: 37
Andreas Puschmann
H-Index: 24
Medically relevant tandem repeats in nanopore sequencing of control cohorts
medRxiv
2024
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
H-Index: 25
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
H-Index: 25
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
H-Index: 5
Adam Ameur
H-Index: 25
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
Nature genetics
2022/9
Zhe Wang
H-Index: 3
Tim Moore
H-Index: 11
Lawrence F Bielak
H-Index: 39
Mary F Feitosa
H-Index: 57
Åsa Johansson
H-Index: 44
Robert Karlsson
H-Index: 35
Boram Kim
H-Index: 2
Mattias Lorentzon
H-Index: 52
Massimo Mangino
H-Index: 93
Natalia V Rivera
H-Index: 15
Xiaoshuai Zhang
H-Index: 7
Wei Zhao
H-Index: 20
Soren Brage
H-Index: 66
Ulf Ekelund
H-Index: 17
Ching-Ti Liu
H-Index: 47
Stefan Enroth
H-Index: 32
Oscar H Franco
H-Index: 101
Niels Grarup
H-Index: 64
Gerardo Heiss
H-Index: 78
Alan James
H-Index: 4
Woon-Puay Koh
H-Index: 51
Aihua Li
H-Index: 8
Arden Moscati
H-Index: 15
Christopher P Nelson
H-Index: 59
Igor Rudan
H-Index: 5
Laura J Scott
H-Index: 57
Emily Sonestedt
H-Index: 48
Uwe Völker
H-Index: 71
Huichun Xu
H-Index: 25
Adam Ameur
H-Index: 25
Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening
Cancer Informatics
2022/7