Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome von Blackburn, Patrick R., Xu, Zhi, Tumelty, Kathleen E., Zhao, Rose W., Monis, William J., Harris, Kimberly G., Gass, Jennifer M., Cousin, Margot A., Boczek, Nicole J., Mitkov, Mario V., Cappel, Mark A., Francomano, Clair A., Parisi, Joseph E., Klee, Eric W., Faqeih, Eissa, Alkuraya, Fowzan S., Layne, Matthew D., McDonnell, Nazli B., Atwal, Paldeep S.

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LeafCutterMD: an algorithm for outlier splicing detection in rare diseases von Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W

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Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans von Lu, Hsiang-Chih, Tan, Qiumin, Rousseaux, Maxime W C, Wang, Wei, Kim, Ji-Yoen, Richman, Ronald, Wan, Ying-Wooi, Yeh, Szu-Ying, Patel, Jay M, Liu, Xiuyun, Lin, Tao, Lee, Yoontae, Fryer, John D, Han, Jing, Chahrour, Maria, Finnell, Richard H, Lei, Yunping, Zurita-Jimenez, Maria E, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Van Maldergem, Lionel, Lehalle, Daphne, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Thevenon, Julien, Cousin, Margot A, Bro, Della E, Lanpher, Brendan C, Klee, Eric W, Alexander, Nora, Bainbridge, Matthew N, Orr, Harry T, Sillitoe, Roy V, Ljungberg, M Cecilia, Liu, Zhandong, Schaaf, Christian P, Zoghbi, Huda Y

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease von Oliver, Gavin R, Tang, Xiaojia, Schultz-Rogers, Laura E, Vidal-Folch, Noemi, Jenkinson, W Garrett, Schwab, Tanya L, Gaonkar, Krutika, Cousin, Margot A, Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease von Fadra, Numrah, Schultz-Rogers, Laura E, Chanana, Pritha, Cousin, Margot A, Macke, Erica L, Ferrer, Alejandro, Pinto E Vairo, Filippo, Olson, Rory J, Oliver, Gavin R, Mulvihill, Lindsay A, Jenkinson, Garrett, Klee, Eric W

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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation... von Zimmermann, Michael T, Urrutia, Raul, Oliver, Gavin R, Blackburn, Patrick R, Cousin, Margot A, Bozeck, Nicole J, Klee, Eric W

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Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment von Cousin, Margot A, Ebbert, Jon O, Wiinamaki, Amanda R, Urban, Mark D, Argue, David P, Ekker, Stephen C, Klee, Eric W

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Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies von Cousin, Margot A., Smith, Matthew J., Sigafoos, Ashley N., Jin, Jay J., Murphree, Marine I., Boczek, Nicole J., Blackburn, Patrick R., Oliver, Gavin R., Aleff, Ross A., Clark, Karl J., Wieben, Eric D., Joshi, Avni Y., Pichurin, Pavel N., Abraham, Roshini S., Klee, Eric W.

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Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties von Zimmermann, Michael T, Urrutia, Raul, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W

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Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia von Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.

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Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5 von Rajan, Deepa S, Kour, Sukhleen, Fortuna, Tyler R, Cousin, Margot A, Barnett, Sarah S, Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W, Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja K, Vigeland, Magnus Dehli, Erichsen, Anne Kjersti, Nemeth, Andrea H, Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R, Kruer, Michael C, Pandey, Udai Bhan

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The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients von Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos N., Babovic-Vuksanovic, Dusica, Klee, Eric W.

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Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients von Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic‐Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.

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Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons von Kaiser, Jacqueline, Risteska, Alana, Muller, Abbey G., Sun, Haoxiong, Lei, Bethany, Nay, Kevin, Means, Anthony R., Cousin, Margot A., Drewry, David H., Oakhill, Jonathan S., Kemp, Bruce E., Hannan, Anthony J., Berk, Michael, Febbraio, Mark A., Gundlach, Andrew L., Hill-Yardin, Elisa L., Scott, John W.

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Zebrafish: a model for the study of addiction genetics von Klee, Eric W., Schneider, Henning, Clark, Karl J., Cousin, Margot A., Ebbert, Jon O., Hooten, W. Michael, Karpyak, Victor M., Warner, David O., Ekker, Stephen C.

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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities von Cousin, Margot A., Conboy, Erin, Wang, Jian-She, Lenz, Dominic, Schwab, Tanya L., Williams, Monique, Abraham, Roshini S., Barnett, Sarah, El-Youssef, Mounif, Graham, Rondell P., Gutierrez Sanchez, Luz Helena, Hasadsri, Linda, Hoffmann, Georg F., Hull, Nathan C., Kopajtich, Robert, Kovacs-Nagy, Reka, Li, Jia-qi, Marx-Berger, Daniela, McLin, Valérie, McNiven, Mark A., Mounajjed, Taofic, Prokisch, Holger, Rymen, Daisy, Schulze, Ryan J., Staufner, Christian, Yang, Ye, Clark, Karl J., Lanpher, Brendan C., Klee, Eric W.

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Comparison of Fluorescence In Situ Hybridization, p57 Immunostaining, Flow Cytometry, and Digital Image Analysis for Diagnosing Molar and Nonmolar Products of Conception von KIPP, Benjamin R, KETTERLING, Rhett P, CLAYTON, Amy C, OBERG, Trynda N, COUSIN, Margot A, PLAGGE, Amy M, WIKTOR, Anne E, IHRKE, Johnita M, MEYERS, Cecelia H, MORICE, William G, HALLING, Kevin C

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience von Lazaridis, Konstantinos N, Schahl, Kimberly A, Cousin, Margot A, Babovic-Vuksanovic, Dusica, Riegert-Johnson, Douglas L, Gavrilova, Ralitza H, McAllister, Tammy M, Lindor, Noralane M, Abraham, Roshini S, Ackerman, Michael J, Pichurin, Pavel N, Deyle, David R, Gavrilov, Dimitar K, Hand, Jennifer L, Klee, Eric W, Stephens, Michael C, Wick, Myra J, Atkinson, Elizabeth J, Linden, David R, Ferber, Matthew J, Wieben, Eric D, Farrugia, Gianrico

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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome von García-Cazorla, Àngels, Verdura, Edgard, Juliá-Palacios, Natalia, Anderson, Eric N., Goicoechea, Leire, Planas-Serra, Laura, Tsogtbaatar, Enkhtuul, Dsouza, Nikita R., Schlüter, Agatha, Urreizti, Roser, Tarnowski, Jessica M., Gavrilova, Ralitza H., Ruiz, Montserrat, Rodríguez-Palmero, Agustí, Fourcade, Stéphane, Cogné, Benjamin, Besnard, Thomas, Vincent, Marie, Bézieau, Stéphane, Folmes, Clifford D., Zimmermann, Michael T., Klee, Eric W., Pandey, Udai Bhan, Artuch, Rafael, Cousin, Margot A., Pujol, Aurora

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Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias von Mangaonkar, Abhishek A., Ferrer, Alejandro, Pinto e Vairo, Filippo, Cousin, Margot A., Kuisle, Ryan J., Gangat, Naseema, Hogan, William J., Litzow, Mark R., McAllister, Tammy M., Klee, Eric W., Lazaridis, Konstantinos N., Stewart, A. Keith, Patnaik, Mrinal M.

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