Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24

le Barrowman, Jemima, Hamblet, Corinne, Kane, Megan S., Michaelis, Susan
Foilsithe 2012

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

le Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry
Foilsithe in Genes Dis (2019)

LMNA-Associated Cardiocutaneous Progeria: a Novel Autosomal Dominant Premature Aging Syndrome with Late Onset

le Kane, Megan S., Lindsay, Mark E., Judge, Daniel P., Barrowman, Jemima, Rhys, Colette Ap, Simonson, Lisa, Dietz, Harry C., Michaelis, Susan
Foilsithe 2013

The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis

le Chiplunkar, Aditi R, Curtis, Benjamin C, Eades, Gabriel L, Kane, Megan S, Fox, Sean J, Haar, Jack L, Lloyd, Joyce A
Foilsithe in BMC Dev Biol (2013)

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

le Kane, Megan S., Vilboux, Thierry, Wolfe, Lynne A., Lee, Paul R., Wang, Yupeng, Huddleston, Kathi C., Vockley, Joseph G., Niederhuber, John E., Solomon, Benjamin D.
Foilsithe in Brain (2016)

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

le Davids, Mariska, Kane, Megan S, He, Miao, Wolfe, Lynne A, Li, Xueli, Raihan, Mohd A, Chao, Katherine R, Bone, William P, Boerkoel, Cornelius F, Gahl, William A, Toro, Camilo
Foilsithe in J Med Genet (2015)

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

le Kane, Megan S., Davids, Mariska, Adams, Christopher, Wolfe, Lynne A., Cheung, Helen W., Gropman, Andrea, Huang, Yan, Ng, Bobby G., Freeze, Hudson H., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Foilsithe in Am J Hum Genet (2016)

MED23-associated Intellectual Disability in a Non-consanguineous Family

le Trehan, Aditi, Brady, Jacqueline M., Maduro, Valerie, Bone, William, Huang, Yan, Golas, Gretchen A., Kane, Megan, Lee, Paul R., Thurm, Audrey, Gropman, Andrea L., Paul, Scott M., Vezina, Gilbert, Markello, Thomas C., Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Foilsithe in Am J Med Genet A (2015)

Abnormal glycosylation in Joubert syndrome type 10

le Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.
Foilsithe in Cilia (2017)

Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors

le Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Schaefer, G. Bradley, Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Foilsithe in Mol Genet Metab (2015)

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

le Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Foilsithe in Front Med (Lausanne) (2017)