Catheter Ablation of Accessory Atrioventricular Pathways (Wolff–Parkinson–White Syndrome) by Radiofrequency Current von Jackman, Warren M, Wang, Xunzhang, Friday, Karen J, Roman, Carlos A, Moulton, Kriech P, Beckman, Karen J, McClelland, James H, Twidale, Nicholas, Hazlitt, H. Andrew, Prior, Michael I, Margolis, P. David, Calame, James D, Overholt, Edward D, Lazzara, Ralph

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Characterization of reentrant circuit in macroreentrant right atrial tachycardia after surgical repair of congenital heart disease : Isolated channels between scars allow focal abl... von NAKAGAWA, Hiroshi, SHAH, Nayyar, OTOMO, Kenichiro, ZULU WANG, LAZZARA, Ralph, JACKMAN, Warren M, MATSUDAIRA, Kagari, OVERHOLT, Edward, CHANDRASEKARAN, Krishnaswamy, BECKMAN, Karen J, SPECTOR, Peter, CALAME, James D, RAO, Arun, HASDEMIR, Can

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Role of the tricuspid annulus and the eustachian valve/ridge on atrial flutter. Relevance to catheter ablation of the septal isthmus and a new technique for rapid identification of... von Nakagawa, H, Lazzara, R, Khastgir, T, Beckman, K J, McClelland, J H, Imai, S, Pitha, J V, Becker, A E, Arruda, M, Gonzalez, M D, Widman, L E, Rome, M, Neuhauser, J, Wang, X, Calame, J D, Goudeau, M D, Jackman, W M

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Relation between pulmonary vein firing and extent of left atrial-pulmonary vein connection in patients with atrial fibrillation von NAKAGAWA, Hiroshi, AOYAMA, Hiroshi, HASDEMIR, Can, SINGH, Dalip, LAZZARA, Ralph, JACKMAN, Warren M, BECKMAN, Karen J, PO, Sunny S, WU, Richard, LOCKWOOD, Deborah, SPECTOR, Peter, CALAME, James D, LUSTGARTEN, Daniel L, HERRING, Lisa

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TLR7 gain-of-function genetic variation causes human lupus von Brown, Grant J., Cañete, Pablo F., Wang, Hao, Medhavy, Arti, Bones, Josiah, Roco, Jonathan A., He, Yuke, Qin, Yuting, Cappello, Jean, Ellyard, Julia I., Bassett, Katharine, Shen, Qian, Burgio, Gaetan, Zhang, Yaoyuan, Turnbull, Cynthia, Meng, Xiangpeng, Wu, Phil, Cho, Eun, Miosge, Lisa A., Andrews, T. Daniel, Field, Matt A., Tvorogov, Denis, Lopez, Angel F., Babon, Jeffrey J., López, Cristina Aparicio, Gónzalez-Murillo, África, Garulo, Daniel Clemente, Pascual, Virginia, Levy, Tess, Mallack, Eric J., Calame, Daniel G., Lotze, Timothy, Lupski, James R., Ding, Huihua, Ullah, Tomalika R., Walters, Giles D., Koina, Mark E., Cook, Matthew C., Shen, Nan, de Lucas Collantes, Carmen, Corry, Ben, Gantier, Michael P., Athanasopoulos, Vicki, Vinuesa, Carola G.

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects von Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., High, Frances A.

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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data von Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

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Electrical resynchronization induced by direct His-bundle pacing von Lustgarten, Daniel L., MD, PhD, Calame, Susan, RN, Crespo, Eric M., MD, Calame, James, RN, Lobel, Robert, MD, Spector, Peter S., MD

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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits von Elbendary, Hasnaa M., Marafi, Dana, Saad, Ahmed K., Elhossini, Rasha, Duan, Ruizhi, Rafat, Karima, Jhangiani, Shalini N., Gibbs, Richard A., Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Lupski, James R., Zaki, Maha S.

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The temporal variability of dominant frequency and complex fractionated atrial electrograms constrains the validity of sequential mapping in human atrial fibrillation von Habel, Nicole, Znojkiewicz, Pierre, MD, Thompson, Nathaniel, MD, Müller, Joachim G., MD, Mason, Bryan, BA, Calame, James, RN, BSN, Calame, Susan, RN, Sharma, Shruti, BS, Mirchandani, Gagan, PhD, Janks, Deborah, PhD, Bates, Jason, PhD, Noori, Arshia, MD, Karnbach, Andreas, Lustgarten, Daniel L., MD, PhD, Sobel, Burton E., MD, Spector, Peter, MD

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A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus von Calame, Daniel G., Herman, Isabella, Riviello, James J.

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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32 von Dardas, Zain, Marafi, Dana, Duan, Ruizhi, Fatih, Jawid M, El-Rashidy, Omnia F, Grochowski, Christopher M, Carvalho, Claudia M B, Jhangiani, Shalini N, Bi, Weimin, Du, Haowei, Gibbs, Richard A, Posey, Jennifer E, Calame, Daniel G, Zaki, Maha S, Lupski, James R

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Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis von Qian, Xuyu, DeGennaro, Ellen M, Talukdar, Maya, Akula, Shyam K, Lai, Abbe, Shao, Diane D, Gonzalez, Dilenny, Marciano, Jack H, Smith, Richard S, Hylton, Norma K, Yang, Edward, Bazan, J Fernando, Barrett, Lee, Yeh, Rebecca C, Hill, R Sean, Beck, Samantha G, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E, Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C, Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S, Barnett, Christopher P, Arts, Peer, Sherr, Elliott H, Lupski, James R, Walsh, Christopher A

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals von Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response von Deb, Wallid, Rosenfelt, Cory, Vignard, Virginie, Papendorf, Jonas Johannes, Möller, Sophie, Wendlandt, Martin, Studencka-Turski, Maja, Cogné, Benjamin, Besnard, Thomas, Ruffier, Léa, Toutain, Bérénice, Poirier, Léa, Cuinat, Silvestre, Kritzer, Amy, Crunk, Amy, diMonda, Janette, Vengoechea, Jaime, Mercier, Sandra, Kleinendorst, Lotte, van Haelst, Mieke M., Zuurbier, Linda, Sulem, Telma, Katrínardóttir, Hildigunnur, Friðriksdóttir, Rún, Sulem, Patrick, Stefansson, Kari, Jonsdottir, Berglind, Zeidler, Shimriet, Sinnema, Margje, Stegmann, Alexander P.A., Naveh, Natali, Skraban, Cara M., Gray, Christopher, Murrell, Jill R., Isikay, Sedat, Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Nizon, Mathilde, McWalter, Kirsty, Lupski, James R., Isidor, Bertrand, Bolduc, François V., Bézieau, Stéphane, Krüger, Elke, Küry, Sébastien, Ebstein, Frédéric

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia von Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy von Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., Lupski, James R.

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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellu... von Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Nguyen Galván, Nhu Thao, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., Bellen, Hugo J.

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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis von Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.

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