Transcriptional regulatory elements in the human genome
Maston, Glenn A, Evans, Sara K, Green, Michael R
Published in Annual review of genomics and human genetics (01.01.2006)
Published in Annual review of genomics and human genetics (01.01.2006)
Get more information
Journal Article
Variants of Unknown Significance in Maturity-Onset Diabetes of the Young: High Rate of Conundrum Resolution via Variants of Unknown Significance Reanalysis
Alarcon, Guido, Maston, Glenn A, Hoffman, Carol A, Posey, Jennifer E, Redondo, Maria Jose, Tosur, Mustafa
Published in Hormone research in paediatrics (28.05.2024)
Published in Hormone research in paediatrics (28.05.2024)
Get more information
Journal Article
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders
Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller-Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Published in Human mutation (01.01.2016)
Published in Human mutation (01.01.2016)
Get full text
Journal Article
Characterization of enhancer function from genome-wide analyses
Maston, Glenn A, Landt, Stephen G, Snyder, Michael, Green, Michael R
Published in Annual review of genomics and human genetics (01.01.2012)
Published in Annual review of genomics and human genetics (01.01.2012)
Get more information
Journal Article
Non-canonical TAF complexes regulate active promoters in human embryonic stem cells
Maston, Glenn A, Zhu, Lihua Julie, Chamberlain, Lynn, Lin, Ling, Fang, Minggang, Green, Michael R
Published in eLife (13.11.2012)
Published in eLife (13.11.2012)
Get full text
Journal Article
TRF3, a TATA-Box-Binding Protein-Related Factor, Is Vertebrate-Specific and Widely Expressed
Persengiev, Stephan P., Zhu, Xiaochun, Dixit, Bharat L., Maston, Glenn A., Ellen L. W. Kittler, Green, Michael R.
Published in Proceedings of the National Academy of Sciences - PNAS (09.12.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (09.12.2003)
Get full text
Journal Article
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Schmidt, Ryan J., Steeves, Marcie, Bayrak-Toydemir, Pinar, Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Ganapathi, Mythily, Garcia, John, Gollob, Michael H., Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, Maston, Glenn, McGoldrick, Kelly, Palculict, T. Blake, Pesaran, Tina, Pollin, Toni I., Qian, Emily, Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying, Lebo, Matthew S., Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
Get full text
Journal Article
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
ELZINGA, Christopher, MEDEIROS, Katelyn, KARBASSI, Izabela, BRAASTAD, Corey, MASTON, Glenn, DUBOIS, Felicita, JONES, Jeffery, HIGGINS, Joseph, DEV BATISH, Sat, MCCARTHY, Michele, LAPIERRE, Jennifer, DIVINCENZO, Christina
Year of Publication 24.04.2024
Get full text
Year of Publication 24.04.2024
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
MASTON, GLENN, DIVINCENZO, CHRISTINA, MCCARTHY, MICHELE, MEDEIROS, KATELYN, BRAASTAD, COREY, KARBASSI, IZABELA, DEV BATISH, SAT, LAPIERRE, JENNIFER, DUBOIS, FELICITA, ELZINGA, CHRISTOPHER, HIGGINS, JOSEPH, JONES, JEFFERY
Year of Publication 17.10.2023
Get full text
Year of Publication 17.10.2023
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
ELZINGA, Christopher, MEDEIROS, Katelyn, KARBASSI, Izabela, BRAASTAD, Corey, MASTON, Glenn, DUBOIS, Felicita, JONES, Jeffery, HIGGINS, Joseph, MCCARTHY, Michele, LAPIERRE, Jennifer, BATISH, Sat DEV, DIVINCENZO, Christina
Year of Publication 31.12.2020
Get full text
Year of Publication 31.12.2020
Patent
Pathogenicity scoring system for human clinical genetics
Divincenzo, Christina, McCarthy, Michele, Jones, Jeffery, Elzinga, Christopher, Medeiros, Katelyn, Maston, Glenn, Braastad, Corey, Karbassi, Izabela, Batish, Sat Dev, Higgins, Joseph, Lapierre, Jennifer, Dubois, Felicita
Year of Publication 01.09.2020
Get full text
Year of Publication 01.09.2020
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
ELZINGA, Christopher, MEDEIROS, Katelyn, KARBASSI, Izabela, BRAASTAD, Corey, MASTON, Glenn, DUBOIS, Felicita, JONES, Jeffery, HIGGINS, Joseph, DEV BATISH, Sat, MCCARTHY, Michele, LAPIERRE, Jennifer, DIVINCENZO, Christina
Year of Publication 25.01.2017
Get full text
Year of Publication 25.01.2017
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
LAPIERRE Jennifer, BRAASTAD Corey, DUBOIS Felicita, JONES Jeffery, ELZINGA Christopher, HIGGINS Joseph, MCCARTHY Michele, KARBASSI Izabela, MEDEIROS Katelyn, MASTON Glenn, BATISH Sat DEV, DIVINCENZO Christina
Year of Publication 01.09.2016
Get full text
Year of Publication 01.09.2016
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
MASTON, GLENN, DIVINCENZO, CHRISTINA, MCCARTHY, MICHELE, MEDEIROS, KATELYN, BRAASTAD, COREY, KARBASSI, IZABELA, DEV BATISH, SAT, LAPIERRE, JENNIFER, DUBOIS, FELICITA, ELZINGA, CHRISTOPHER, HIGGINS, JOSEPH, JONES, JEFFERY
Year of Publication 31.08.2016
Get full text
Year of Publication 31.08.2016
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
MASTON, GLENN, DIVINCENZO, CHRISTINA, MCCARTHY, MICHELE, ELZINGA, CHIRSTOPHER, MEDEIROS, KATELYN, BRAASTAD, COREY, KARBASSI, IZABELA, DEV BATISH, SAT, LAPIERRE, JENNIFER, DUBOIS, FELICITA, JONES, JEFFREY, HIGGINS, JOSEPH
Year of Publication 30.04.2015
Get full text
Year of Publication 30.04.2015
Patent
PATHOGENICITY SCORING SYSTEM FOR HUMAN CLINICAL GENETICS
MASTON, GLENN, DIVINCENZO, CHRISTINA, MCCARTHY, MICHELE, ELZINGA, CHIRSTOPHER, MEDEIROS, KATELYN, BRAASTAD, COREY, KARBASSI, IZABELA, DEV BATISH, SAT, LAPIERRE, JENNIFER, DUBOIS, FELICITA, JONES, JEFFREY, HIGGINS, JOSEPH
Year of Publication 30.04.2015
Get full text
Year of Publication 30.04.2015
Patent