E-LIB Suche - Ergebnisse für: Maloney, Kristin A

1

P220: Genetic testing reveals underascertainment of monogen..:

Maloney, Kristin ; Letourneau-Freiberg, Lisa ; Posey, Jennifer...
Genetics in Medicine Open. 2 (2024) - p. 101117 , 2024

Link: https://doi.org/10.1016/..

2

In Vitro Functional Analysis Can Aid Precision Diagnostics ..:

Pavithram, Aishwarya ; Zhang, Haichen ; Maloney, Kristin A....
The Journal of Molecular Diagnostics. 26 (2024) 6 - p. 530-541 , 2024

Link: https://doi.org/10.1016/..

3

Genetic counseling in diabetes mellitus: A practice resourc..:

Maloney, Kristin A. ; Mizerik, Elizabeth ; King, Robin H....
Journal of Genetic Counseling. , 2023

Link: https://doi.org/10.1002/..

4

The use of precision diagnostics for monogenic diabetes: a ..:

Murphy, Rinki ; Colclough, Kevin ; Pollin, Toni I....
Communications Medicine. 3 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

Associations of genome-wide and regional autozygosity with ..:

Lynch, Megan T. ; Maloney, Kristin A. ; Xu, Huichun...
BMC Genomics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Are genetic counselors prepared to counsel active‐duty serv..:

Kamen, Michael ; Hellwig, Lydia D. ; Maloney, Kristin A....
Journal of Genetic Counseling. 31 (2022) 6 - p. 1363-1372 , 2022

Link: https://doi.org/10.1002/..

7

Impact of parental relatedness on reproductive outcomes amo..:

Lynch, Megan T. ; Maloney, Kristin A. ; Pollin, Toni I....
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2119-2128 , 2022

Link: https://doi.org/10.1002/..

8

Determinants of penetrance and variable expressivity in mon..:

Goodrich, Julia K. ; Singer-Berk, Moriel ; Son, Rachel...
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

9

Impact of genetic relatedness of parents on reproductive ou..:

Lynch, Megan ; Maloney, Kristin ; Pollin, Toni...
Molecular Genetics and Metabolism. 132 (2021) - p. S214-S215 , 2021

Link: https://doi.org/10.1016/..

10

The burden of pathogenic variants in clinically actionable ..:

Lynch, Megan T. ; Maloney, Kristin A. ; Pollin, Toni I....
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3476-3484 , 2021

Link: https://doi.org/10.1002/..

11

Patient perspectives on the diagnostic journey to a monogen..:

Guan, Yue ; Maloney, Kristin A. ; Pollin, Toni I.
Journal of Genetic Counseling. 29 (2020) 6 - p. 1106-1113 , 2020

Link: https://doi.org/10.1002/..

12

Multisite Investigation of Strategies for the Implementatio..:

Empey, Philip E. ; Stevenson, James M. ; Tuteja, Sony...
Clinical Pharmacology & Therapeutics. 104 (2018) 4 - p. 664-674 , 2018

Link: https://doi.org/10.1002/..

13

Genetic Counselors' Experience with and Opinions on the Man..:

Leppert, Kristen ; Bisordi, Katharine ; Nieto, Jessica...
Journal of Genetic Counseling. 27 (2018) 6 - p. 1328-1340 , 2018

Link: https://doi.org/10.1007/..

14

Patient Care Situations Benefiting from Pharmacogenomic Tes..:

Mills, Rachel A. ; Eichmeyer, Jennifer N. ; Williams, Leah M....
Current Genetic Medicine Reports. 6 (2018) 2 - p. 43-51 , 2018

Link: https://doi.org/10.1007/..

15

Parkinson's Disease: Patients' Knowledge, Attitudes, and In..:

Maloney, Kristin A. ; Alaeddin, Dina S. ; von Coelln, Rainer...
Journal of Genetic Counseling. 27 (2018) 5 - p. 1200-1209 , 2018

Link: https://doi.org/10.1007/..