Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency von Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M.J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian

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Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST von Mo, Alisa, Saffari, Afshin, Kellner, Melanie, Döbler‐Neumann, Marion, Jordan, Catherine, Srivastava, Siddharth, Zhang, Bo, Sahin, Mustafa, Fink, John K., Smith, Linsley, Posey, Jennifer E., Alter, Katharine E., Toro, Camilo, Blackstone, Craig, Soldatos, Ariane G., Christie, Michelle, Schüle, Rebecca, Ebrahimi‐Fakhari, Darius

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Neurofilament light chain levels correlate with clinical measures in CLN3 disease von Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.

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Brain proton MR spectroscopy measurements in CLN3 disease von Dang Do, An N., Baker, Eva H., Farmer, Cristan A., Soldatos, Ariane G., Thurm, Audrey E., Porter, Forbes D.

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Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program von Montano, Carolina, Cassini, Thomas, Ziegler, Shira G., Boehm, Manfred, Nicoli, Elena‐Raluca, Mindell, Joseph A., Soldatos, Ariane G., Manoli, Irini, Wolfe, Lynne, Macnamara, Ellen F., Malicdan, May Christine V., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A.

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Use of the Vineland‐3, a measure of adaptive functioning, in CLN3 von Dang Do, An N., Thurm, Audrey E., Farmer, Cristan A., Soldatos, Ariane G., Chlebowski, Colby E., O'Reilly, Julie K., Porter, Forbes D.

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases von Pena, Loren D M, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel S G, del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Goldstein, David B, Shashi, Vandana

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Post-infectious Encephalomyelitis von Magaña, Setty M., Soldatos, Ariane G.

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JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies von Sanchez, Gina A Montealegre, Reinhardt, Adam, Ramsey, Suzanne, Wittkowski, Helmut, Hashkes, Philip J, Berkun, Yackov, Schalm, Susanne, Murias, Sara, Dare, Jason A, Brown, Diane, Stone, Deborah L, Gao, Ling, Klausmeier, Thomas, Foell, Dirk, de Jesus, Adriana A, Chapelle, Dawn C, Kim, Hanna, Dill, Samantha, Colbert, Robert A, Failla, Laura, Kost, Bahar, O'Brien, Michelle, Reynolds, James C, Folio, Les R, Calvo, Katherine R, Paul, Scott M, Weir, Nargues, Brofferio, Alessandra, Soldatos, Ariane, Biancotto, Angelique, Cowen, Edward W, Digiovanna, John J, Gadina, Massimo, Lipton, Andrew J, Hadigan, Colleen, Holland, Steven M, Fontana, Joseph, Alawad, Ahmad S, Brown, Rebecca J, Rother, Kristina I, Heller, Theo, Brooks, Kristina M, Kumar, Parag, Brooks, Stephen R, Waldman, Meryl, Singh, Harsharan K, Nickeleit, Volker, Silk, Maria, Prakash, Apurva, Janes, Jonathan M, Ozen, Seza, Wakim, Paul G, Brogan, Paul A, Macias, William L, Goldbach-Mansky, Raphaela

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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center von Vilboux, Thierry, Doherty, Daniel A., Glass, Ian A., Parisi, Melissa A., Phelps, Ian G., Cullinane, Andrew R., Zein, Wadih, Brooks, Brian P., Heller, Theo, Soldatos, Ariane, Oden, Neal L., Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James C., NISC Comparative Sequencing Program, Malicdan, May Christine V., Gahl, William A., Gunay-Aygun, Meral

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Intrathecal Gene Therapy for Giant Axonal Neuropathy von Bharucha-Goebel, Diana X., Todd, Joshua J., Saade, Dimah, Norato, Gina, Jain, Minal, Lehky, Tanya, Bailey, Rachel M., Chichester, Jessica A., Calcedo, Roberto, Armao, Diane, Foley, A. Reghan, Mohassel, Payam, Tesfaye, Eshetu, Carlin, Bradley P., Seremula, Beth, Waite, Melissa, Zein, Wadih M., Huryn, Laryssa A., Crawford, Thomas O., Sumner, Charlotte J., Hoke, Ahmet, Heiss, John D., Charnas, Lawrence, Hooper, Jody E., Bouldin, Thomas W., Kang, Elizabeth M., Rybin, Denis, Gray, Steven J., Bönnemann, Carsten G.

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Virtual multi-institutional tumor board: a strategy for personalized diagnoses and management of rare CNS tumors von Rogers, James L., Wall, Thomas, Acquaye-Mallory, Alvina A., Boris, Lisa, Kim, Yeonju, Aldape, Kenneth, Quezado, Martha M., Butman, John A., Smirniotopoulos, James G., Chaudhry, Huma, Tsien, Christina I., Chittiboina, Prashant, Zaghloul, Kareem, Aboud, Orwa, Avgeropoulos, Nicholas G., Burton, Eric C., Cachia, David M., Dixit, Karan S., Drappatz, Jan, Dunbar, Erin M., Forsyth, Peter, Komlodi-Pasztor, Edina, Mandel, Jacob, Ozer, Byram H., Lee, Eudocia Q., Ranjan, Surabhi, Lukas, Rimas V., Raygada, Margarita, Salacz, Michael E., Smith-Cohn, Matthew A., Snyder, James, Soldatos, Ariane, Theeler, Brett J., Widemann, Brigitte C., Camphausen, Kevin A., Heiss, John D., Armstrong, Terri S., Gilbert, Mark R., Penas-Prado, Marta

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability von Schneider, Amy L., Myers, Candace T., Muir, Alison M., Calvert, Sophie, Basinger, Alice, Perry, M. Scott, Rodan, Lance, Helbig, Katherine L., Chambers, Chelsea, Gorman, Kathleen M., King, Mary D., Donkervoort, Sandra, Soldatos, Ariane, Bönnemann, Carsten G., Spataro, Nino, Gabau, Elisabeth, Arellano, Montserrat, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rossignol, Elsa, Hamdan, Fadi F., Michaud, Jacques L., Balak, Christopher, Mefford, Heather C., Scheffer, Ingrid E.

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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy von Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem

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Biallelic SCN 10A mutations in neuromuscular disease and epileptic encephalopathy von Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem

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JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies von Sanchez, Gina A. Montealegre, Reinhardt, Adam, Ramsey, Suzanne, Wittkowski, Helmut, Hashkes, Philip J, Berkun, Yackov, Schalm, Susanne, Murias, Sara, Dare, Jason A, Brown, Diane, Stone, Deborah L, Gao, Ling, Klausmeier, Thomas, Foell, Dirk, De Jesus, Adriana A, Chapelle, Dawn C, Kim, Hanna, Dill, Samantha, Colbert, Robert A, Failla, Laura, Kost, Bahar, O'Brien, Michelle, Reynolds, James C, Folio, Les R, Calvo, Katherine R, Paul, Scott M, Weir, Nargues, Brofferio, Alessandra, Soldatos, Ariane, Biancotto, Angelique, Cowen, Edward W, Digiovanna, John J, Gadina, Massimo, Lipton, Andrew J, Hadigan, Colleen, Holland, Steven M, Fontana, Joseph, Alawad, Ahmad S, Brown, Rebecca J, Rother, Kristina I, Heller, Theo, Brooks, Kristina M, Kumar, Parag, Brooks, Stephen R, Waldman, Meryl, Singh, Harsharan K, Nickeleit, Volker, Silk, Maria, Prakash, Apurva, Janes, Jonathan M, Ozen, Seza, Wakim, Paul G, Brogan, Paul A, Macias, William L, Goldbach-Mansky, Raphaela

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