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Circulation. Genomic and Precision Medicine|May 18, 2023
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular ArrhythmiasCaroline Pham, Karolina Andrzejczyk, Sean J Jurgens, et al.Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.European Journal of Human Genetics : EJHG|September 20, 2019
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsyNajim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, et al.Journal of the American College of Cardiology|April 29, 2017
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death SyndromeNajim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, et al.Genome Biology|September 15, 2017
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathyMatthias Heinig, Michiel E Adriaens, Sebastian Schafer, et al.American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.Nature Genetics|July 5, 2016
Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencingJérôme Nicod, Robert W Davies, Na Cai, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.The Journal of Clinical Investigation|March 1, 2021
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyNajim Lahrouchi, Alex V Postma, Christian M Salazar, et al.The Journal of Clinical Investigation|July 3, 2019
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapyJason D Roberts, Nathaniel P Murphy, Robert M Hamilton, et al.Pageof 7