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Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.
The Journal of Clinical Investigation|April 28, 2020
Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failureStefanie Kreutmair, Miriam Erlacher, Geoffroy Andrieux, et al.
Blood|January 9, 2014
A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphomaItziar Salaverria, Idoia Martin-Guerrero, Rabea Wagener, et al.
Cancer Cell|February 13, 2019
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor PhenotypeJudith E Grolleman, Richarda M de Voer, Fadwa A Elsayed, et al.
Breast Cancer Research : BCR|April 7, 2011
Exploring the link between MORF4L1 and risk of breast cancerGriselda Martrat, Christopher M Maxwell, Emiko Tominaga, et al.
Scientific Reports|August 31, 2019
Two truncating variants in FANCC and breast cancer riskThilo Dörk, Paolo Peterlongo, Arto Mannermaa, et al.
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