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European Journal of Human Genetics : EJHG|December 22, 2016
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathyCatalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, et al.American Journal of Medical Genetics. Part A|February 19, 2016
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathyAnita Hiippala, Catalina Vasilescu, Jonna Tallila, et al.Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|October 27, 2015
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutationsPauli Pöyhönen, Anita Hiippala, Laura Ollila, et al.Journal of the American College of Cardiology|November 3, 2018
Genetic Basis of Severe Childhood-Onset CardiomyopathiesCatalina Vasilescu, Tiina H Ojala, Virginia Brilhante, et al.Human Molecular Genetics|May 6, 2009
The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populationsJohannes Schumacher, Gonzalo Laje, Rami Abou Jamra, et al.Communications Biology|January 3, 2024
Recessive TMOD1 mutation causes childhood cardiomyopathyCatalina Vasilescu, Mert Colpan, Tiina H Ojala, et al.Human Molecular Genetics|January 15, 2010
A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophreniaAndrés Ingason, Ina Giegling, Sven Cichon, et al.Cell Reports. Medicine|January 25, 2024
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathySerena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli, et al.Nature Genetics|August 5, 2008
Identification of loci associated with schizophrenia by genome-wide association and follow-upMichael C O'Donovan, Nicholas Craddock, Nadine Norton, et al.Nature|August 1, 2008
Large recurrent microdeletions associated with schizophreniaHreinn Stefansson, Dan Rujescu, Sven Cichon, et al.Pageof 1