Joakim Klar (J Klar)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2020
Publications (10 Years): 9

Top Venues

European journal of human genetics : EJHG

Clinical genetics

Molecular genetics & genomic medicine

BMC medical genomics

Ludwig Institute for Cancer Research Stockholm Branch of Molecular and Cell Biology

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ludwig Institute for Cancer Research Stockholm Branch of Molecular and Cell Biology Apr 1o 2006 - Mar 31o 2008

Sweden

Post-doc

Publications

Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E Davis, Hélène Dollfus, Jean Muller
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. Clinical genetics 99 (2) (2020)
Joakim Klar, Helene Engstrand-Lilja, Khurram Maqbool, Jonas Mattisson, Lars Feuk, Niklas Dahl
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants. BMC medical genomics 13 (1) (2020)
Pantelis Clewemar, Nils P Hailer, Yasmin Hailer, Joakim Klar, Andreas Kindmark, Östen Ljunggren, Eva-Lena Stattin
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. Molecular genetics & genomic medicine 7 (7) (2019)
Carina Frykholm, Joakim Klar, Tatjana Tomanovic, Adam Ameur, Niklas Dahl
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. European journal of human genetics : EJHG 26 (12) (2018)
M Tariq, T N Khan, L Lundin, M Jameel, T Lönnerholm, S M Baig, N Dahl, Joakim Klar
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. Clinical genetics 93 (1) (2017)
Joakim Klar, Jörg Piontek, Susanne Milatz, Muhammad Tariq, Muhammad Jameel, Tilman Breiderhoff, Jens Schuster, Ambrin Fatima, Maria Asif, Muhammad Sher, Katrin Mäbert, Anja Fromm, Shahid M Baig, Dorothee Günzel, Niklas Dahl
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. PLoS genetics 13 (7) (2017)
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. European journal of human genetics : EJHG 25 (7) (2017)
Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H Helfrich, Fraser P Coxon, Niklas Dahl, Johan Wikström, Ulf H Lerner
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. Scientific reports 7 (1) (2017)
Joakim Klar, Doroteya Raykova, Elisabet Gustafson, Iveta Tóthová, Adam Ameur, Alkwin Wanders, Niklas Dahl
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. European journal of human genetics : EJHG 23 (12) (2015)

Joakim Klar.css-eqlu8i{font-size:small;padding-left:4px;} (J Klar)

Publication Activity (10 Years)

Top Topics

Top Venues

Joakim Klar (J Klar)