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American Journal of Human Genetics|June 5, 2020
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP SyndromeHuijun Wang, Aytaj Humbatova, Yuanxiang Liu, et al.Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.Nature Genetics|June 30, 2015
Mutational dynamics between primary and relapse neuroblastomasAlexander Schramm, Johannes Köster, Yassen Assenov, et al.Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.Blood|October 5, 2018
IG-<i>MYC</i> <sup>+</sup> neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomasRabea Wagener, Cristina López, Kortine Kleinheinz, et al.American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|June 24, 2015
Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer PatientsKatharina König, Martin Peifer, Jana Fassunke, et al.Journal of Medical Genetics|April 14, 2019
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)Jan Hauke, Eric Hahnen, Stephanie Schneider, et al.European Journal of Human Genetics : EJHG|February 5, 2024
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile EpilepsyMahmoud Koko, Maha A Elseed, Inaam N Mohammed, et al.HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.Pageof 33