Belzutifan in adults with VHL-associated central nervous system hemangioblastoma: a single-center experience von Neth, Bryan J., Webb, Mason J., White, Jessica, Uhm, Joon H., Pichurin, Pavel N., Sener, Ugur

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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability von Nicola, Pantelis, Blackburn, Patrick R., Rasmussen, Kristen J., Bertsch, Nicole L., Klee, Eric W., Hasadsri, Linda, Pichurin, Pavel N., Rankin, Julia, Raymond, F. Lucy, Clayton‐Smith, Jill

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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode von Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias

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Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection von Miao, Jing, Pinto e Vairo, Filippo, Hogan, Marie C., Erickson, Stephen B., El Ters, Mireille, Bentall, Andrew J., Kukla, Aleksandra, Greene, Eddie L., Hernandez, Loren Herrera, Sethi, Sanjeev, Lazaridis, Konstantinos N., Pichurin, Pavel N., Lisi, Emily, Prochnow, Carri A., Zand, Ladan, Fervenza, Fernando C.

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome von Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study von Ercan, Ayse Bahar, Aronson, Melyssa, Chang, Yuan, Liu, Zhihui Amy, Negm, Logine, Edwards, Melissa, Chung, Jiil, Reschke, Agnes, Lion, Alex, Ahmad, Alia, Lassaletta, Alvaro, Al-Darraji, Amir F, Shah, Amish C, Van Damme, An, Bendel, Anne, Rashid, Aqeela, Margol, Ashley S, Kelly, Bethany L, Heald, Brandie, Lemieux-Anglin, Brianna, Crooks, Bruce, Koschmann, Carl, Gilpin, Catherine, Gass, David, Samuel, David, Ziegler, David S, Blumenthal, Deborah T, Kuo, Dennis John, Hamideh, Dima, Basel, Donald, Stearns, Duncan, Opocher, Enrico, Toledano, Helen, Winer, Ira, Fedorakova, Ivana, Su, Jack M, Vengoechea, Jaime, Sterba, Jaroslav, Knipstein, Jeffrey, Hansford, Jordan R, Bhatia, Kanika, Minhas, Khurram, Nichols, Kim E, Cole, Kristina A, Penney, Lynette, Hjort, Magnus Aasved, Sabel, Magnus, Murray, Matthew J, Miller, Matthew, Blundell, Maude L, Massimino, Maura, Al-Hussaini, Maysa, Comito, Melanie A, Osborn, Michael, Link, Michael P, Zapotocky, Michal, Ghalibafian, Mithra, Mushtaq, Naureen, Hijiya, Nobuko, Fuentes-Bolanos, Noemi, Ahmad, Olfat, Chamdine, Omar, Pichurin, Pavel N, Nyman, Per, Auer, Rebecca C, Sukumaran, Reghu K, Kebudi, Rejin, Dvir, Rina, Raphael, Robert, Elhasid, Ronit, Chami, Rose, Noss, Ryan, Tanaka, Ryuma, Raskin, Salmo, Sen, Santanu, Lindhorst, Scott, Caspi, Shani, Riaz, Shazia, Constantini, Shlomi, Albert, Sophie, Chaleff, Stanley, Chiaravalli, Stefano, Roy, Sumita, Cahn, Suzanne, Hamid, Syed Ahmer, Ghafoor, Tariq, Imam, Uzma, Larouche, Valerie, Magimairajan Issai, Vanan, Foulkes, William D, Lee, Yi Yen, Nathan, Paul C, Maruvka, Yosef E, Greer, Mary-Louise C, Durno, Carol, Shlien, Adam, Malkin, David, Hawkins, Cynthia, Das, Anirban, Tabori, Uri

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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea von Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.

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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder von Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann‐Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau‐Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal F., Lerner‐Ellis, Jordan, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Alexander P.A., Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Zampino, Giuseppe, Wortmann, Saskia B., Mayr, Johannes A., Feichtinger, René G., Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez‐Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun

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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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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome von Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome von Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

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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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Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education von Bandel, Lorelei A, Vierkant, Robert A, Kruisselbrink, Teresa M, Bublitz, Michelle L, Wilson, Tammy A, Armasu, Sebastian M, Egan, Jan B, Presutti, Richard J, Samadder, Niloy Jewel J, Sekulic, Aleksandar, Olson, Rory J, Tan-Arroyo, Jennifer, Morales-Rosado, Joel A, Klee, Eric W, Ferber, Matthew J, Kemppainen, Jennifer L, Anderson, Jennifer L, Bidwell, Jessa S, Wick, Joseph J, Ortega, Victor E, Bobo, William V, Pichurin, Pavel N, Mcmillan, Jessica M, Weaver, DeAnna M, Riegert-Johnson, Douglas L, Cera, Alanna M, Boucher, Lauren M, Kullo, Iftikhar J, Mantia, Sarah K, Jones, Matthew T, Larson, Nicholas B, Luehrs, Tony C, Leitzke, Jon W, Sicotte, Hugues, Tian, Shulan, Stavlund, Jennifer R, Pacyna, Joel E, Sharp, Richard R, Asabere, Akwasi A, Lu, James, McAllister, Tammy M, Walker, T'Nita S, Stewart, A Keith, Farrugia, Gianrico, Lazaridis, Konstantinos N

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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data von Ferrer, Alejandro, Duffy, Patrick, Olson, Rory J., Meiners, Michael A., Schultz-Rogers, Laura, Macke, Erica L., Safgren, Stephanie, Morales-Rosado, Joel A., Cousin, Margot A., Oliver, Gavin R., Rider, David, Williams, Megan, Pichurin, Pavel N., Deyle, David R., Morava, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klass J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Kaiwar, Charu, Vitek, Carolyn R., McAllister, Tammy M., Wick, Myra J., Schimmenti, Lisa A., Lazaridis, Konstantinos N., Vairo, Filippo Pinto e, Klee, Eric W.

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Evidence for Brainstem Motor Nondecussation as a Neurologic Substrate for Periodic Alternating Gaze Deviation von Brodsky, Michael C., MD, Kotagal, Suresh, MD, Pichurin, Pavel N., MD, Ho, Mai-Lan, MD

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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review von Wain, Karen E., Ellingson, Marissa S., McDonald, Jamie, Gammon, Amanda, Roberts, Maegan, Pichurin, Pavel, Winship, Ingrid, Riegert-Johnson, Douglas L., Weitzel, Jeffrey N., Lindor, Noralane M.

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Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report von Pinto E Vairo, Filippo, Pichurin, Pavel N, Fervenza, Fernando C, Nasr, Samih H, Mills, Kevin, Schmitz, Christopher T, Klee, Eric W, Herrmann, Sandra M

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly von Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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