PMC Links for Nucleotide (Select 256418952) - PMC

Select item 69987461.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 62523662.

Bayesian approach to determining penetrance of pathogenic SDH variants

Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh

J Med Genet. 2018 Nov; 55(11): 729–734. Published online 2018 Sep 10. doi: 10.1136/jmedgenet-2018-105427

PMCID:: PMC6252366

Abstract Article PDF–339K

Select item 59249913.

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Jin Wook Yi, Hye In Kang, Su-jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park

Case Rep Endocrinol. 2018; 2018: 8657914. Published online 2018 Apr 15. doi: 10.1155/2018/8657914

PMCID:: PMC5924991

Abstract Article PDF–1.4M

Select item 49298664.

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects

Sosipatros A Boikos, Paraskevi Xekouki, Elena Fumagalli, Fabio R Faucz, Margarita Raygada, Eva Szarek, Evan Ball, Su Young Kim, Markku Miettinen, Lee J Helman, J Aidan Carney, Karel Pacak, Constantine A Stratakis

Eur J Hum Genet. 2016 Apr; 24(4): 569–573. Published online 2015 Jul 15. doi: 10.1038/ejhg.2015.142

PMCID:: PMC4929866

Abstract Article PDF–764K

Select item 33972575.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

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