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Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Nature Metabolism|November 23, 2024
Pathogenic role of acyl coenzyme A binding protein (ACBP) in Cushing's syndromeHui Pan, Ai-Ling Tian, Hui Chen, et al.
Breast Cancer Research : BCR|March 28, 2006
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriersEitan Friedman, Joanne Kotsopoulos, Jan Lubinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2013
Implementing genomic medicine in the clinic: the future is hereTeri A Manolio, Rex L Chisholm, Brad Ozenberger, et al.
JAMA Oncology|February 29, 2024
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence VariationsJan Lubinski, Joanne Kotsopoulos, Pal Moller, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|May 14, 2026
Impact of the French ENDOCAN-COMETE Network on Overall Survival in Rare Adrenocortical CarcinomasRossella Libé, Matthieu Faron, Anne-Sophie Foucan, et al.
Cancer Genetics|March 21, 2012
Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583Sari Tuupanen, Jian Yan, Mikko Turunen, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 14, 2024
Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis ComplexKris Ann P Schultz, Suzanne P MacFarland, Melissa R Perrino, et al.
JAMA|October 27, 2005
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC geneFrancesca Schiavi, Carsten C Boedeker, Birke Bausch, et al.
Head & Neck|April 14, 2015
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor RegistryBirke Bausch, Ulrich Wellner, Mathieu Peyre, et al.
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