Genetics in medicine open

Keyphrases

Publications

volume 2, 2024

Jung Kim, Jeremy S Haley, Jessica N Hatton, Uyenlinh L Mirshahi, H Shanker Rao, Mark Erving H Ramos, Diane T Smelser, Gretchen Urban, Kris Ann P Schultz, David J Carey, Douglas R Stewart
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts. Genetics in medicine open 2 (2024)
Jung Kim, Jeremy S Haley, Jessica N Hatton, Uyenlinh L Mirshahi, H Shanker Rao, Mark Erving H Ramos, Diane T Smelser, Gretchen Urban, Kris Ann P Schultz, David J Carey, Douglas R Stewart
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts. Genetics in medicine open 2 (2024)
Jung Kim, Jeremy S Haley, Jessica N Hatton, Uyenlinh L Mirshahi, H Shanker Rao, Mark Erving H Ramos, Diane T Smelser, Gretchen Urban, Kris Ann P Schultz, David J Carey, Douglas R Stewart
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts. Genetics in medicine open 2 (2024)
Citrine Elatrash, Jenna Shi, Theresa Wilson, Sarah H Elsea, Stephanie Sisley
Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome. Genetics in medicine open 2 (2024)
Citrine Elatrash, Jenna Shi, Theresa Wilson, Sarah H Elsea, Stephanie Sisley
Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome. Genetics in medicine open 2 (2024)
Citrine Elatrash, Jenna Shi, Theresa Wilson, Sarah H Elsea, Stephanie Sisley
Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome. Genetics in medicine open 2 (2024)
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Yang Cao, Kristy R Crooks, Kristen L Deak, Daniela Del Gaudio, Birgit Funke, Nicole L Hoppman, Vanessa Horner, Robert B Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M Mikhail, Stephen R Moore, Rizwan C Naeem, Laura M Pollard, Elena A Repnikova, Lina Shao, Brandon M Shaw, Shashirekha Shetty, Teresa A Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H Vance, Cindy L Vnencak-Jones, Eli S Williams
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics in medicine open 2 (2024)
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Yang Cao, Kristy R Crooks, Kristen L Deak, Daniela Del Gaudio, Birgit Funke, Nicole L Hoppman, Vanessa Horner, Robert B Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M Mikhail, Stephen R Moore, Rizwan C Naeem, Laura M Pollard, Elena A Repnikova, Lina Shao, Brandon M Shaw, Shashirekha Shetty, Teresa A Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H Vance, Cindy L Vnencak-Jones, Eli S Williams
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics in medicine open 2 (2024)
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker, Yang Cao, Kristy R Crooks, Kristen L Deak, Daniela Del Gaudio, Birgit Funke, Nicole L Hoppman, Vanessa Horner, Robert B Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M Mikhail, Stephen R Moore, Rizwan C Naeem, Laura M Pollard, Elena A Repnikova, Lina Shao, Brandon M Shaw, Shashirekha Shetty, Teresa A Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H Vance, Cindy L Vnencak-Jones, Eli S Williams
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors. Genetics in medicine open 2 (2024)

volume 2, 2023

volume 1, number 1, 2023

Elizabeth L Kudron, Sridharan Raghavan, Yee Ming Lee, Jan T Lowery
Primary care providers' preferences for the communication and management of actionable genomic findings from a research biobank. Genetics in medicine open 1 (1) (2023)
Elizabeth L Kudron, Sridharan Raghavan, Yee Ming Lee, Jan T Lowery
Primary care providers' preferences for the communication and management of actionable genomic findings from a research biobank. Genetics in medicine open 1 (1) (2023)
Elizabeth L Kudron, Sridharan Raghavan, Yee Ming Lee, Jan T Lowery
Primary care providers' preferences for the communication and management of actionable genomic findings from a research biobank. Genetics in medicine open 1 (1) (2023)
Christopher E Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A Lawson, Ingo Helbig, Matthew N Bainbridge
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance. Genetics in medicine open 1 (1) (2023)
Christopher E Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A Lawson, Ingo Helbig, Matthew N Bainbridge
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance. Genetics in medicine open 1 (1) (2023)
Christopher E Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A Lawson, Ingo Helbig, Matthew N Bainbridge
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance. Genetics in medicine open 1 (1) (2023)
Sarah L Stenton, Madelynn Campagna, Anthony A Philippakis, Anne H O'Donnell-Luria, Michael H Gelb
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing. Genetics in medicine open 1 (1) (2023)