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Joakim Klar

About Joakim Klar

Joakim Klar, With an exceptional h-index of 33 and a recent h-index of 23 (since 2020), a distinguished researcher at Uppsala Universitet, specializes in the field of Genetics.

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

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Inflammation and interferon signatures in peripheral B-lymphocytes and sera of individuals with fibromyalgia

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000–2010: a complete nationwide cohort of SCDs

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Joakim Klar Information

University

Position

___

Citations(all)

10749

Citations(since 2020)

7220

Cited By

14065

hIndex(all)

33

hIndex(since 2020)

23

i10Index(all)

59

i10Index(since 2020)

43

Email

University Profile Page

Google Scholar

Joakim Klar Skills & Research Interests

Genetics

Top articles of Joakim Klar

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

Clinical Autonomic Research

2023/8

Joakim Klar
Joakim Klar

H-Index: 29

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders

Genes

2023/7/6

Muhammad Sher
Muhammad Sher

H-Index: 18

Barbara Vona
Barbara Vona

H-Index: 11

Joakim Klar
Joakim Klar

H-Index: 29

Stephanie Efthymiou
Stephanie Efthymiou

H-Index: 14

Mathias Toft
Mathias Toft

H-Index: 26

Zafar Iqbal
Zafar Iqbal

H-Index: 8

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications

bioRxiv

2023

Jens Schuster
Jens Schuster

H-Index: 15

Xi Lu
Xi Lu

H-Index: 6

Joakim Klar
Joakim Klar

H-Index: 29

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

JAAD Case Reports

2023/1/1

Joakim Klar
Joakim Klar

H-Index: 29

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Frontiers in Molecular Neuroscience

2022/10/24

Jens Schuster
Jens Schuster

H-Index: 15

Joakim Klar
Joakim Klar

H-Index: 29

Velin Marita Sequeira
Velin Marita Sequeira

H-Index: 2

Zhe Jin
Zhe Jin

H-Index: 17

Ann Nordgren
Ann Nordgren

H-Index: 30

Caroline Gallant
Caroline Gallant

H-Index: 14

Inflammation and interferon signatures in peripheral B-lymphocytes and sera of individuals with fibromyalgia

Frontiers in Immunology

2022/5/26

Joakim Klar
Joakim Klar

H-Index: 29

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000–2010: a complete nationwide cohort of SCDs

BMJ open

2022/5/1

Joakim Klar
Joakim Klar

H-Index: 29

Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

Stem Cell Research

2022/4/1

Jens Schuster
Jens Schuster

H-Index: 15

Joakim Klar
Joakim Klar

H-Index: 29

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

The American Journal of Human Genetics

2021/4/1

Jens Schuster
Jens Schuster

H-Index: 15

Zafar Ali
Zafar Ali

H-Index: 5

Takayoshi Koike
Takayoshi Koike

H-Index: 29

Zhe Jin
Zhe Jin

H-Index: 17

Naomichi Matsumoto
Naomichi Matsumoto

H-Index: 56

Joakim Klar
Joakim Klar

H-Index: 29

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

Clinical genetics

2021/2

Joakim Klar
Joakim Klar

H-Index: 29

Erica E Davis
Erica E Davis

H-Index: 40

Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, 2 Carolina Maya-Gonzalez, Boris Keren, 3 Cyril Mignot, 3 Talia Akram, Zafar Ali, 4 Satoko Miyatake, 2, 5 Junpei …

2021

Naomichi Matsumoto
Naomichi Matsumoto

H-Index: 56

Joakim Klar
Joakim Klar

H-Index: 29

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

International journal of hematology

2020/12

Joakim Klar
Joakim Klar

H-Index: 29

Muhammad Zakaria
Muhammad Zakaria

H-Index: 0

Muhammad Tariq
Muhammad Tariq

H-Index: 2

Jens Schuster
Jens Schuster

H-Index: 15

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

BMC Medical Genomics

2020/12

Joakim Klar
Joakim Klar

H-Index: 29

Khurram Maqbool
Khurram Maqbool

H-Index: 8

Lars Feuk
Lars Feuk

H-Index: 32

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Clinical Epigenetics

2020/12

Joakim Klar
Joakim Klar

H-Index: 29

Maria Sobol
Maria Sobol

H-Index: 8

Muhammad Zakaria
Muhammad Zakaria

H-Index: 0

Anna Falk
Anna Falk

H-Index: 19

Jens Schuster
Jens Schuster

H-Index: 15

See List of Professors in Joakim Klar University(Uppsala Universitet)