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Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas Vuocolo, Blake; Sierra, Roberta; Brooks, Daniel; Holder, Christopher; Urbanski, Lauren; Rodriguez, Keila; Gamez, Jose David; Mulukutla, Surya Narayan; Hernandez, Ana; Allegre, Alberto; Hidalgo, Humberto; Rodriguez, Sarah; Magallan, Sandy; Gibson, Jeremy; Bernini, Juan Carlos; Watson, Melanie; Nelson, Robert; Mellin-Sanchez, Lizbeth; Garcia, Nancy; Berry, Lori; Dai, Hongzheng; Soler-Alfonso, Claudia; Carter, Kent; Lee, Brendan; Lalani, Seema R. 分享 收藏
Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome MRC2的罕见变异与家族性室上性心动过速和wolff-parkinson-white综合征相关 Potter, Adam S.; Miyake, Christina Y.; Gonzaga-Jauregui, Claudia; Aguilar-Sanchez, Yuriana; Hulsurkar, Mohit M.; Lahiri, Satadru K.; Moreira, Lucia M.; Mehta, Neelam; Azamian, Mahshid S.; Lupski, James R.; Reilly, Svetlana; Lalani, Seema R.; Wehrens, Xander H. T. 分享 收藏
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release Fruh, Simon; Boudkkazi, Sami; Koppensteiner, Peter; Sereikaite, Vita; Chen, Li-Yuan; Fernandez-Fernandez, Diego; Rem, Pascal D.; Ulrich, Daniel; Schwenk, Jochen; Chen, Ziyang; Le Monnier, Elodie; Fritzius, Thorsten; Innocenti, Sabrina M.; Besseyrias, Valerie; Trovo, Luca; Stawarski, Michal; Argilli, Emanuela; Sherr, Elliott H.; van Bon, Bregje; Kamsteeg, Erik-Jan; Iascone, Maria; Pilotta, Alba; Cutri, Maria R.; Azamian, Mahshid S.; Hernandez-Garcia, Andres; Lalani, Seema R.; Rosenfeld, Jill A.; Zhao, Xiaonan; Vogel, Tiphanie P.; Ona, Herda; Scott, Daryl A.; Scheiffele, Peter; Stromgaard, Kristian; Tafti, Mehdi; Gassmann, Martin; Fakler, Bernd; Shigemoto, Ryuichi; Bettler, Bernhard 分享 收藏
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes 神经发育障碍队列的负担重新分析，以优先考虑候选基因 Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Kooy, R. Frank; Weckhuysen, Sarah 分享 收藏
Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2deficiency disorder Xu, Weiyi; Cao, Yingqiong; Stephens, Sara B.; Arredondo, Maria Jose; Chen, Yifan; Perez, William; Sun, Liang; Yu, Andy C.; Kim, Jean J.; Lalani, Seema R.; Li, Na; Horrigan, Frank T.; Altamirano, Francisco; Wehrens, Xander H. T.; Miyake, Christina Y.; Zhang, Lilei 分享 收藏
Improving access to exome sequencing in a medically underserved population through the Texome Project Vuocolo, Blake; German, Ryan J.; Lalani, Seema R.; Murali, Chaya N.; Bacino, Carlos A.; Baskin, Stephanie; Littlejohn, Rebecca; Odom, John D.; Mclean, Scott; Schmid, Carrie; Nutter, Morgan; Stuebben, Melissa; Magness, Emily; Juarez, Olivia; El Achi, Dina; Mitchell, Bailey; Glinton, Kevin E.; Robak, Laurie; Nagamani, Sandesh C. S.; Saba, Lisa; Ritenour, Adasia; Zhang, Lilei; Streff, Haley; Chan, Katie; Kemere, K. Jordan; Carter, Kent; Vossaert, Liesbeth; Liu, Pengfei; Bellen, Hugo; Wangler, Michael F. 分享 收藏
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing Li, Shenglan; Zhao, Sen; Sinson, Jefferson C.; Bajic, Aleksandar; Rosenfeld, Jill A.; Neeley, Matthew B.; Pena, Mezthly; Worley, Kim C.; Burrage, Lindsay C.; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William J.; Clark, Gary D.; Lalani, Seema; Bacino, Carlos A.; Machol, Keren; Chao, Hsiao-Tuan; Potocki, Lorraine; Emrick, Lisa; Sheppard, Jennifer; Nguyen, My T. T.; Khoramnia, Anahita; Hernandez, Paula Patricia; Nagamani, Sandesh CS.; Liu, Zhandong; Eng, Christine M.; Lee, Brendan; Liu, Pengfei 分享 收藏
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J. 分享 收藏
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease Landis, Benjamin J.; Helvaty, Lindsey R.; Geddes, Gabrielle C.; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A.; Lo, Cecilia W.; Border, William L.; Wechsler, Stephanie Burns; Murali, Chaya N.; Azamian, Mahshid S.; Lalani, Seema R.; Hinton, Robert B.; Garg, Vidu; McBride, Kim L.; Hodge, Jennelle C.; Ware, Stephanie M. 分享 收藏
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return 涉及异常肺静脉回流的临床外显子组测序功效和表型扩展 Huth, Emily A.; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N.; Vogel, Ida; Dorf, Inger L. H.; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J.; Louw, Jacoba J.; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y.; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B.; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S.; Rankin, Julia; Helvaty, Lindsey R.; Landis, Benjamin J.; Geddes, Gabrielle C.; McBride, Kim L.; Ware, Stephanie M.; Shaw, Chad A.; Lalani, Seema R.; Rosenfeld, Jill A.; Scott, Daryl A. 分享 收藏
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study Kramer, Ryan J.; Fatahian, Amir Nima; Chan, Alice; Mortenson, Jeffery; Osher, Jennifer; Sun, Bo; Parker, Lauren E.; Rosamilia, Michael B.; Potter, Kyra B.; Moore, Kaila; Atkins, Sage L.; Rosenfeld, Jill A.; Birjiniuk, Alona; Jones, Edward; Howard, Taylor S.; Kim, Jeffrey J.; Scott, Daryl A.; Lalani, Seema; Rouzbehani, Omid M. T.; Kaplan, Samantha; Hathaway, Marissa A.; Cohen, Jennifer L.; Asaki, S. Yukiko; Martinez, Hugo R.; Boudina, Sihem; Landstrom, Andrew P. 分享 收藏
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. 分享 收藏
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 双等位基因MED27变体导致运动障碍的可变脑-小脑-变性 Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏
Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix 分享 收藏
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Azamian, Mahshid Sababi; Worley, Kim C.; Del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna 分享 收藏
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