Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish von Lynch, Megan T, Maloney, Kristin A, Xu, Huichun, Perry, James A, Center, Regeneron Genetics, Shuldiner, Alan R, Mitchell, Braxton D

Volltext

Functional epialleles at an endogenous human centromere von Maloney, Kristin A, Sullivan, Lori L, Matheny, Justyne E, Strome, Erin D, Merrett, Stephanie L, Ferris, Alyssa, Sullivan, Beth A

Volltext

Human centromere repositioning within euchromatin after partial chromosome deletion von Sullivan, Lori L., Maloney, Kristin A., Towers, Aaron J., Gregory, Simon G., Sullivan, Beth A.

Volltext

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants von Kleinberger, Jeffrey, Maloney, Kristin A., Pollin, Toni I., Jeng, Linda Jo Bone

Volltext

Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype‐Guided Antiplatelet Therapy von Empey, Philip E., Stevenson, James M., Tuteja, Sony, Weitzel, Kristin W., Angiolillo, Dominick J., Beitelshees, Amber L., Coons, James C., Duarte, Julio D., Franchi, Francesco, Jeng, Linda J.B., Johnson, Julie A., Kreutz, Rolf P., Limdi, Nita A., Maloney, Kristin A., Owusu Obeng, Aniwaa, Peterson, Josh F., Petry, Natasha, Pratt, Victoria M., Rollini, Fabiana, Scott, Stuart A., Skaar, Todd C., Vesely, Mark R., Stouffer, George A., Wilke, Russell A., Cavallari, Larisa H., Lee, Craig R.

Volltext

Are genetic counselors prepared to counsel active‐duty service members? A survey of genetic counselors' self‐efficacy, counseling techniques, and knowledge of military policy von Kamen, Michael, Hellwig, Lydia D., Maloney, Kristin A., Scott, Jessica, Turner, Clesson, Dixon, Shannan

Volltext

Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators von Guan, Yue, Maloney, Kristin A., Pollin, Toni I.

Volltext

In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY von Pavithram, Aishwarya, Zhang, Haichen, Maloney, Kristin A., Ringdal, Monika, Kaci, Alba, Sagen, Jørn V., Kleinberger, Jeffrey, Jeng, Linda J.B., Njølstad, Pål R., Pollin, Toni I., Molnes, Janne, Johansson, Bente B.

Volltext

Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program von Zhang, Haichen, Kleinberger, Jeffrey W, Maloney, Kristin A, Guan, Yue, Mathias, Trevor J, Bisordi, Katharine, Streeten, Elizabeth A, Blessing, Kristina, Snyder, Mallory N, Bromberger, Lee A, Goehringer, Jessica, Kimball, Amy, Damcott, Coleen M, Taylor, Casey O, Nicholson, Michaela, Nwaba, Devon, Palmer, Kathleen, Sewell, Danielle, Ambulos, Nicholas, Jeng, Linda J B, Shuldiner, Alan R, Levin, Philip, Carey, David J, Pollin, Toni I

Volltext

Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes von Guan, Yue, Maloney, Kristin A., Roter, Debra L., Pollin, Toni I.

Volltext

1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine von JOHANSSON, BENTE B., PAVITHRAM, AISHWARYA, ZHANG, HAICHEN, MALONEY, KRISTIN A., RINGDAL, MONIKA, KACI, ALBA, SAGEN, JORN V., KLEINBERGER, JEFFREY, JENG, LINDA, NJØLSTAD, PÅL RASMUS, POLLIN, TONI I., MOLNES, JANNE

Volltext

Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors von Maloney, Kristin A., Mizerik, Elizabeth, King, Robin H., McGinnis, Erin M., Perkowitz, Susan, Diamonstein, Callie J., Schmanski, Andrew A., Saliganan, Sheila, Shipper, Andrea G., Udler, Miriam S., Guan, Yue, Pollin, Toni I.

Volltext

Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County von Lynch, Megan T., Maloney, Kristin A., Pollin, Toni I., Streeten, Elizabeth A., Puffenberger, Erik G., Strauss, Kevin A., Shuldiner, Alan R., Mitchell, Braxton D.

Volltext

2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel von POLLIN, TONI I., MAYERS, MEGAN A., GREELEY, SIRI ATMA W., MALONEY, KRISTIN A., NAYLOR, ROCHELLE N., PAKYZ, RUTH E., PATEL, KASHYAP A., UDLER, MIRIAM, ZHANG, HAICHEN, COLCLOUGH, KEVIN, THAXTON, COURTNEY

Volltext

The burden of pathogenic variants in clinically actionable genes in a founder population von Lynch, Megan T., Maloney, Kristin A., Pollin, Toni I., Streeten, Elizabeth A., Xu, Huichun, Shuldiner, Alan R., Van Hout, Cristopher V., Gonzaga‐Jauregui, Claudia, Mitchell, Braxton D.

Volltext

Parkinson’s Disease: Patients’ Knowledge, Attitudes, and Interest in Genetic Counseling von Maloney, Kristin A., Alaeddin, Dina S., von Coelln, Rainer, Dixon, Shannan, Shulman, Lisa M., Schrader, Katrina, Guan, Yue

Volltext

1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel von ZHANG, HAICHEN, MALONEY, KRISTIN A., BARBETTI, FABRIZIO, GREELEY, SIRI ATMA W., KETTUNEN, JARNO L.T., MIRANDA, JOSÉ P., MIRSHAHI, UYENLINH L., MOLNES, JANNE, MURPHY, RINKI, NAYLOR, ROCHELLE N., PAKYZ, RUTH E., PHILIPSON, LOUIS H., PRUDENTE, SABRINA, TUOMI, TIINAMAIJA, UDLER, MIRIAM, COLCLOUGH, KEVIN, JENG, LINDA, POLLIN, TONI I.

Volltext

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine von Streeten, Elizabeth A., See, Vincent Y., Jeng, Linda B.J., Maloney, Kristin A., Lynch, Megan, Glazer, Andrew M., Yang, Tao, Roden, Dan, Pollin, Toni I., Daue, Melanie, Ryan, Kathleen A., Van Hout, Cristopher, Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Economides, Aris, Perry, James A., O’Connell, Jeffrey, Beitelshees, Amber, Palmer, Kathleen, Mitchell, Braxton D., Shuldiner, Alan R

Volltext

Prioritizing Approaches to Engage Community Members and Build Trust in Biobanks: A Survey of Attitudes and Opinions of Adults within Outpatient Practices at the University of Maryl... von Overby, Casey Lynnette, Maloney, Kristin A, Alestock, Tameka DeShawn, Chavez, Justin, Berman, David, Sharaf, Reem Maged, Fitzgerald, Tom, Kim, Eun-Young, Palmer, Kathleen, Shuldiner, Alan R, Mitchell, Braxton D

Volltext

Patient Care Situations Benefiting from Pharmacogenomic Testing von Mills, Rachel A., Eichmeyer, Jennifer N., Williams, Leah M., Muskett, Julie A., Schmidlen, Tara J., Maloney, Kristin A., Lemke, Amy A.

Volltext