Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

por Brown, Justin T, Lahey, Cora, Laosinchai-Wolf, Walairat, Hadd, Andrew G
Publicado 2006

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

por Latham, Gary J., Coppinger, Justine, Hadd, Andrew G., Nolin, Sarah L.
Publicado 2014

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

por Houghton, Jeffrey, Hadd, Andrew G., Zeigler, Robert, Haynes, Brian C., Latham, Gary J.
Publicado 2016

X-inactivation in the clinical phenotype of fragile X premutation carrier sisters

por Hall, Deborah A., Robertson-Dick, Erin E., O'Keefe, Joan A., Hadd, Andrew G., Zhou, Lili, Berry-Kravis, Elizabeth
Publicado 2016

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

por Hadd, Andrew G., Filipovic-Sadic, Stela, Zhou, Lili, Williams, Arianna, Latham, Gary J., Berry-Kravis, Elizabeth, Hall, Deborah A.
Publicado 2016

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

por Nolin, Sarah L., Glicksman, Anne, Tortora, Nicole, Allen, Emily, Macpherson, James, Mila, Montserrat, Vianna‐Morgante, Angela M., Sherman, Stephanie L., Dobkin, Carl, Latham, Gary J., Hadd, Andrew G.
Publicado 2019

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

por Domniz, Noam, Ries-Levavi, Liat, Cohen, Yoram, Marom-Haham, Lilach, Berkenstadt, Michal, Pras, Elon, Glicksman, Anne, Tortora, Nicole, Latham, Gary J., Hadd, Andrew G., Nolin, Sarah L., Elizur, Shai E.
Publicado 2018