Concepedia

Jasmin Blatterer

JB

5

Publications

164

Citations

5

H-Index

2019

Active since

Affiliations

Medical University of Graz(Current)

Max Planck Institute for Molecular Genetics

Gomal University

Charité - Universitätsmedizin Berlin

Jasmin Blatterer is an author at Medical University of Graz specializing in genetics, neuropathology, and neurogenetics.

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Publications per year

2019–2021

5

Publications

5

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher et al. · Journal of Medical Genetics · 2021 · 72 citations · Full text

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou et al. · The American Journal of Human Genetics · 2021 · 44 citations · Full text

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Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Guido Vogt, Sarah Verheyen, Sarina Schwartzmann et al. · Journal of Medical Genetics · 2021 · 23 citations · Full text

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

Muhammad Muzammal, Muhammad Ali, Beatrice A. Brugger et al. · Metabolic Brain Disease · 2021 · 13 citations · Full text

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in <i>BBS9</i> gene

Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer et al. · Molecular Genetics & Genomic Medicine · 2019 · 12 citations · Full text

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