Elizabeth M J Lee (Cornelius F Boerkoel)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 23

Top Venues

American journal of medical genetics. Part A

NPJ genomic medicine

Genetics in medicine : official journal of the American College of Medical Genetics

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Duha Hejla, Stephanie Huynh, Simran Samra, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel, Loryn Byres, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis. American journal of medical genetics. Part A 194 (6) (2024)
Duha Hejla, Stephanie Huynh, Simran Samra, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel, Loryn Byres, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis. American journal of medical genetics. Part A 194 (6) (2024)
Duha Hejla, Stephanie Huynh, Simran Samra, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel, Loryn Byres, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis. American journal of medical genetics. Part A 194 (6) (2024)
Duha Hejla, Stephanie Huynh, Simran Samra, Phillip A Richmond, Joshua Dalmann, Kate L Del Bel, Loryn Byres, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis. American journal of medical genetics. Part A (2024)
Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan, Hammad Yousaf, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak, Cris S Constantinescu, Tae-Yoon Kim, Kang-Han Lee, Jae-Jun Kyung, Tao Wang, Bonsu Ku, Bernard N Chodirker, Michael F Hammer, Irene Gottlob, William H J Norton, Robert Gerlai, Hyung-Goo Kim, Claudio Graziano, Tommaso Pippucci, Emanuela Iovino, Francesca Montanari, Giulia Severi, Camilo Toro, Elizabeth M J Lee, Hyo Sun Cha, Cheol Yong Choi, Sungjin Kim, Je-Hyun Yoon, Kelly Gilmore, Neeta L Vora, Erica E Davis, Albert E Chudley, Charles E Schwartz, Cheol-Hee Kim
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability. Annals of neurology (2024)
Ashley Moller-Hansen, Duha Hejla, Hyun Kyung Lee, Jenea Barbara Lyles, Yunhan Yang, Kun Chen, Wenhui Laura Li, Gary Thomas, Elizabeth M J Lee
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability? American journal of medical genetics. Part A (2023)
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F Macnamara, Jennifer Lange, Anna Lehman, Patricia M Zerfas, Jennifer L Murphy, Maria T Acosta, Camille Wang, Emily Alderman, null null, Sara Reichert, Audrey Thurm, David R Adams, Wendy J Introne, Sharon M Gorski, Elizabeth M J Lee, William A Gahl, Cynthia J Tifft, May Christine V Malicdan
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ genomic medicine 8 (1) (2023)
Adam P Sage, Hyun Kyung Lee, Joshua Dalmann, Susan Lin, Simran Samra, Areesha Salman, Kate L Del Bel, Wenhui Laura Li, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee, Phillip A Richmond
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder. American journal of medical genetics. Part A (2023)
Daniela Di Francesco, Anne Swenerton, Wenhui Laura Li, Christopher Dunham, Glenda Hendson, Elizabeth M J Lee
Are CUL3 variants an underreported cause of congenital heart disease? American journal of medical genetics. Part A (2023)
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F Macnamara, Jennifer Lange, Anna Lehman, Patricia M Zerfas, Jennifer L Murphy, Maria T Acosta, Camille Wang, Emily Alderman, null null, Sara Reichert, Audrey Thurm, David R Adams, Wendy J Introne, Sharon M Gorski, Elizabeth M J Lee, William A Gahl, Cynthia J Tifft, May Christine V Malicdan
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ genomic medicine 8 (1) (2023)
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F Macnamara, Jennifer Lange, Anna Lehman, Patricia M Zerfas, Jennifer L Murphy, Maria T Acosta, Camille Wang, Emily Alderman, null null, Sara Reichert, Audrey Thurm, David R Adams, Wendy J Introne, Sharon M Gorski, Elizabeth M J Lee, William A Gahl, Cynthia J Tifft, May Christine V Malicdan
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ genomic medicine 8 (1) (2023)
Adrienne Elbert, Katherine Dixon, Yaoqing Shen, Sara Hamilton, Elizabeth M J Lee, Steven J Jones, Anish K Kanungo
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype. Neurology. Genetics 10 (1) (2023)
Adrienne Elbert, Katherine Dixon, Yaoqing Shen, Sara Hamilton, Elizabeth M J Lee, Steven J Jones, Anish K Kanungo
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype. Neurology. Genetics 10 (1) (2023)
Pierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, Yaoqing Shen, Stephanie Huynh, Kamilla Schlade-Bartusiak, Luka Culibrk, Simon Chan, Elizabeth M J Lee, Steven J M Jones, Hui-Lin Chin
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia. American journal of medical genetics. Part A 188 (5) (2022)
Nour Gazzaz, F Graeme Frost, Emily Alderman, Phillip A Richmond, Joshua Dalmann, Susan Lin, Areesha Salman, Kate L Del Bel, Anna Lehman, Stuart E Turvey, Elizabeth M J Lee, Praveen F Cherukuri
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome? American journal of medical genetics. Part A 188 (10) (2022)
Courtney B Cook, Linlea Armstrong, Elizabeth M J Lee, Lorne A Clarke, Christèle du Souich, Michelle K Demos, William T Gibson, Harinder Gill, Elena Lopez, Millan S Patel, Kathryn Selby, Ziad Abu-Sharar, null null, Alison M Elliott, Jan M Friedman
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications. Cold Spring Harbor molecular case studies 7 (6) (2021)
Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, Michael Castaldo, Katherine Dixon, Kathryn Selby, Yaoqing Shen, Marie Wright, Elizabeth M J Lee, Glenda Hendson, Steven J M Jones
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype? American journal of medical genetics. Part A (2021)
Hui-Lin Chin, Kieran O'Neill, Kristal Louie, Lindsay Brown, Kamilla Schlade-Bartusiak, Patrice Eydoux, Rosemarie Rupps, Ali Farahani, Elizabeth M J Lee, Steven J M Jones
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment. American journal of medical genetics. Part A 185 (8) (2021)
Ashley Moller-Hansen, Stephanie Huynh, Elizabeth M J Lee, Hui-Lin Chin
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease. American journal of medical genetics. Part A (2021)
F Graeme Frost, Praveen F Cherukuri, Samuel Milanovich, Elizabeth M J Lee
Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer. Journal of cellular and molecular medicine 24 (1) (2019)
Angela Myers, Christèle du Souich, Connie L Yang, Lior Borovik, Jill Mwenifumbo, Rosemarie Rupps, Causes Study, Anna Lehman, Elizabeth M J Lee
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? American journal of medical genetics. Part A 173 (12) (2017)
Elizabeth M J Lee, Karen Xu, Emma Mosbrook, Amanda Links, Amanda E Links, David R Adams, Elise Flynn, Elise D Flynn, Camillo Toro, Cynthia J Tifft, Cornelius F Boerkoel, William A Gahl, Murat Sincan
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genetics in medicine : official journal of the American College of Medical Genetics 18 (12) (2016)
William P Bone, Nicole L Washington, Orion J Buske, David R Adams, Joie Davis, David Draper, Elise D Flynn, Marta Girdea, Rena Godfrey, Gretchen Golas, Catherine Groden, Julius Jacobsen, Sebastian Köhler, Elizabeth M J Lee, Amanda E Links, Thomas C Markello, Christopher J Mungall, Michele Nehrebecky, Peter N Robinson, Murat Sincan, Ariane G Soldatos, Cynthia J Tifft, Camilo Toro, Heather Trang, Camillo Toro, Nicole A Vasilevsky, Colleen Wahl, Lynne A Wolfe, Elizabeth M J Lee, Michael Brudno, Melissa A Haendel, William A Gahl, Damian Smedley
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in medicine : official journal of the American College of Medical Genetics 18 (6) (2015)

Elizabeth M J Lee.css-eqlu8i{font-size:small;padding-left:4px;} (Cornelius F Boerkoel)

Publication Activity (10 Years)

Top Topics

Top Venues

Elizabeth M J Lee (Cornelius F Boerkoel)