Ngā hua rapu - Landsverk, Megan

Requirement of Inositol 1,4,5-Trisphosphate Receptors for Tumor-mediated Lymphocyte Apoptosis mā Steinmann, Camia, Landsverk, Megan L., Barral, José M., Boehning, Darren

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Alternative Splicing of sept9a and sept9b in Zebrafish Produces Multiple mRNA Transcripts Expressed Throughout Development mā Landsverk, Megan L., Weiser, Douglas C., Hannibal, Mark C., Kimelman, David

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Novel variants identified in CKAP2L in two siblings with Filippi syndrome mā Patrick, Ryan J., Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L.

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A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies mā Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.

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UNC-98 links an integrin-associated complex to thick filaments in Caenorhabditis elegans muscle mā Miller, Rachel K., Qadota, Hiroshi, Landsverk, Megan L., Mercer, Kristina B., Epstein, Henry F., Benian, Guy M.

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The UNC-45 chaperone mediates sarcomere assembly through myosin degradation in Caenorhabditis elegans mā Landsverk, Megan L., Li, Shumin, Hutagalung, Alex H., Najafov, Ayaz, Hoppe, Thorsten, Barral, José M., Epstein, Henry F.

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Ubiquilin-1 Is a Molecular Chaperone for the Amyloid Precursor Protein mā Stieren, Emily S., El Ayadi, Amina, Xiao, Yao, Siller, Efraín, Landsverk, Megan L., Oberhauser, Andres F., Barral, José M., Boehning, Darren

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Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes mā Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

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Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes mā Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W., Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.

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Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1 mā Johnson, Tyler B., Mechels, Keegan, Anderson, Ruth Ellen, Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.

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Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1 mā Johnson, Tyler B., Mechels, Keegan, Anderson, Ruthellen H., Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.

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Nonsense Pathogenic Variants in Exon One of PHOX2B Lead to Translational Reinitiation in Congenital Central Hypoventilation Syndrome mā Cain, Jacob T., Kim, Dae I., Quast, Megan, Shivega, Winnie G., Patrick, Ryan J., Moser, Chuanpit, Reuter, Suzanne, Perez, Myrza, Myers, Angela, Weimer, Jill M., Roux, Kyle J., Landsverk, Megan

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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome mā Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.

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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process mā Salvador, Monalyn U., Truelson, Melissa R.F., Mason, Carla, Souders, Beth, LaDuca, Holly, Dougall, Brittany, Black, Mary Helen, Fulk, Kelly, Profato, Jessica, Gutierrez, Stephanie, Jasperson, Kory, Tippin-Davis, Brigette, Lu, Hsiao-Mei, Gray, Phillip, Shah, Swati, Chao, Elizabeth C., Ghahramani, Negar, Landsverk, Megan, Gau, Chia-Ling, Chen, Daniel, Pronold, Melissa

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Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy mā Landsverk, Megan L., Ruzzo, Elizabeth K., Mefford, Heather C., Buysse, Karen, Buchan, Jillian G., Eichler, Evan E., Petty, Elizabeth M., Peterson, Esther A., Knutzen, Dana M., Barnett, Karen, Farlow, Martin R., Caress, Judy, Parry, Gareth J., Quan, Dianna, Gardner, Kathy L., Hong, Ming, Simmons, Zachary, Bird, Thomas D., Chance, Phillip F., Hannibal, Mark C.

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes mā Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing mā Yang, Yaping, Muzny, Donna M., Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J., Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L., Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M.

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Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy mā Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.

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