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Molecular Syndromology|October 12, 2019
Novel HIVEP2 Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
Genetic Epidemiology|August 8, 2022
Statistical learning for sparser fine-mapped polygenic models: The prediction of LDL-cholesterolCarlo Maj, Christian Staerk, Oleg Borisov, et al.
European Journal of Immunology|March 25, 2022
The TLR-chaperone CNPY3 is a critical regulator of NLRP3-inflammasome activationMohamed Ghait, Ralf A Husain, Shivalee N Duduskar, et al.
Clinical Genetics|October 14, 2024
Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1Afrasiab Khan, Anees Muhammad, Hidayat Ullah, et al.
Diagnostics (Basel, Switzerland)|April 3, 2021
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish FamiliesSarah C Grünert, Luciana Hannibal, Anke Schumann, et al.
International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, et al.
Molecular Genetics & Genomic Medicine|September 7, 2021
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing dataGerman Demidov, Joohyun Park, Sorin Armeanu-Ebinger, et al.
European Journal of Human Genetics : EJHG|June 5, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference NetworkAleš Maver, Katja Lohmann, Fran Borovečki, et al.
European Journal of Neurology|June 4, 2023
First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individualIulian V Podar, Daniel A P Gutmann, Florian Harmuth, et al.
Clinical Genetics|April 5, 2019
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limbMuhammad Umair, Muhammad Bilal, Raja H Ali, et al.
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