Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 ‐related RASopathy von Grange, Dorothy K., Wegner, Daniel J., Wambach, Jennifer A., Sisco, Kathleen A., Stone, Stephen I., Sheehan, Jonathan H., Ramsey, Keri M., Narayanan, Vinodh, Rauen, Katherine A., Cole, F. Sessions

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Medical Genetics for the Undiagnosed and Rare Patient: "Chasing Zebras" von Sisco, Kathleen, Oliva, Michelle

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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration von Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.

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Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome von Baldridge, Dustin, Spillmann, Rebecca C., Wegner, Daniel J., Wambach, Jennifer A., White, Frances V., Sisco, Kathleen, Toler, Tomi L., Dickson, Patricia I., Cole, F. Sessions, Shashi, Vandana, Grange, Dorothy K.

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification von Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.

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SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia von Srivastava, Siddharth, Shaked, Hagar Mor, Gable, Kenneth, Gupta, Sita D, Pan, Xueyang, Somashekarappa, Niranjanakumari, Han, Gongshe, Mohassel, Payam, Gotkine, Marc, Doney, Elizabeth, Goldenberg, Paula, Tan, Queenie K G, Gong, Yi, Kleinstiver, Benjamin, Wishart, Brian, Cope, Heidi, Pires, Claudia Brito, Stutzman, Hannah, Spillmann, Rebecca C, Sadjadi, Reza, Elpeleg, Orly, Lee, Chia-Hsueh, Bellen, Hugo J, Edvardson, Simon, Eichler, Florian, Dunn, Teresa M

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies von Nil, Zelha, Deshwar, Ashish R, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G, Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J, Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F, Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study von Tan, Queenie K-G, McConkie-Rosell, Allyn, Mahoney, Rachel, Spillmann, Rebecca C, Schoch, Kelly, Chanprasert, Sirisak, Acosta, Maria T, Toro, Camilo, Rosenfeld, Jill A, Orengo, James P, Scott, Daryl A, Granadillo, Jorge L, Sisco, Kathleen, Wegner, Daniel J, Tekin, Mustafa, Bivona, Stephanie, Peart, LéShon, Rodan, Lance, Bonner, Devon, Wheeler, Matthew T, Bernstein, Jonathan A, Ruzhnikov, Maura, Adams, David R, Hisama, Fuki M, Shashi, Vandana

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies von Nil, Zelha, Deshwar, Ashish R., Huang, Yan, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G., Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J., Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F., Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J.

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses von Granadillo, Jorge L., Wegner, Daniel J., Paul, Alexander J., Willing, Marcia, Sisco, Kathleen, Tedder, Matthew L., Sadikovic, Bekim, Wambach, Jennifer A., Baldridge, Dustin, Cole, Francis Sessions

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Paraprofessional Involvement in Self-Determination Instruction for Students with High-Incidence Disabilities von Lane, Kathleen Lynne, Carter, Erik W., Sisco, Lynn

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Paraprofessional Perspectives on Promoting Self-Determination among Elementary and Secondary Students with Severe Disabilities von Carter, Erik W., Sisco, Lynn G., Lane, Kathleen Lynne

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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses von Granadillo, Jorge L, Wegner, Daniel J, Paul, Alexander J, Willing, Marcia, Sisco, Kathleen, Tedder, Matthew L, Sadikovic, Bekim, Wambach, Jennifer A, Baldridge, Dustin, Cole, Francis Sessions

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