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Blood|April 6, 2023
Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemiaQu Jiang, Johanna Stachelscheid, Johannes Bloehdorn, et al.
The New England Journal of Medicine|April 28, 2016
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 MutationsKamel Laghmani, Bodo B Beck, Sung-Sen Yang, et al.
Breast Cancer Research : BCR|January 26, 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancerNana Weber-Lassalle, Jan Hauke, Juliane Ramser, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Plos One|October 21, 2017
Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)Philipp Harter, Jan Hauke, Florian Heitz, et al.
Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|June 3, 2016
Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR InhibitorsSandra Ortiz-Cuaran, Matthias Scheffler, Dennis Plenker, et al.
The Journal of Allergy and Clinical Immunology|March 20, 2012
Genome-wide association study of lung function decline in adults with and without asthmaMedea Imboden, Emmanuelle Bouzigon, Ivan Curjuric, et al.
American Journal of Human Genetics|December 4, 2012
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, et al.
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