未登录Genome Sequencing for Diagnosing Rare Diseases
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne .png)
分享.png)
收藏Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart DiseaseHays, Thomas; Hernan, Rebecca; Disco, Michele; Griffin, Emily L.; Goldshtrom, Nimrod; Vargas, Diana; Krishnamurthy, Ganga; Bomback, Miles; Rehman, Atteeq U.; Wilson, Amanda T.; Guha, Saurav; Phadke, Shruti; Okur, Volkan; Robinson, Dino; Felice, Vanessa; Abhyankar, Avinash; Jobanputra, Vaidehi; Chung, Wendy K. 分享 收藏 Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patientsAbul-Husn, Noura S.; Marathe, Priya N.; Kelly, Nicole R.; Bonini, Katherine E.; Sebastin, Monisha; Odgis, Jacqueline A.; Abhyankar, Avinash; Brown, Kaitlyn; Di Biase, Miranda; Gallagher, Katie M.; Guha, Saurav; Ioele, Nicolette; Okur, Volkan; Ramos, Michelle A.; Rodriguez, Jessica E.; Rehman, Atteeq U.; Thomas-Wilson, Amanda; Edelmann, Lisa; Zinberg, Randi E.; Diaz, George A.; Greally, John M.; Jobanputra, Vaidehi; Suckiel, Sabrina A.; Horowitz, Carol R.; Wasserstein, Melissa P.; Kenny, Eimear E.; Gelh, Bruce D. 分享 收藏 分享 收藏 Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysisOwen, Nichole; Okur, Volkan; Anderson, Stephanie; Smith, Janice; Bacino, Carlos; Ward, Patricia; Cheung, Sau; Breman, Amy; Van Den Veyver, Ignatia; Bi, Weimin 分享 收藏 Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq studyAbul-Husn, Noura; Kelly, Nicole; Rodriguez, Jessica; Abhyankar, Avinash; Donohue, Katherine; Brown, Kaitlyn; DiBiase, Miranda; Gallagher, Katie; Guha, Saurav; Ioele, Nicolette; Marathe, Priya; Odgis, Jacqueline; Okur, Volkan; Ramos, Michelle; Rehman, Atteeq; Sebastin, Monisha; Thomas-Wilson, Amanda; Zinberg, Randi; Diaz, George; Suckiel, Sabrina; Greally, John; Jobanputra, Vaidehi; Horowitz, Carol; Wasserstein, Melissa; Kenny, Eimear; Gelb, Bruce 分享 收藏 分享 收藏 Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesDworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko 分享 收藏 分享 收藏 Reply to PPP2R5D Genetic Mutations and Early Onset ParkinsonismKim, Christine Y.; Wirth, Thomas; Hubsch, Cecile; Nemeth, Andrea H.; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G.; Cortes, Etty; Alcalay, Roy N.; Chung, Wendy K. 分享 收藏 A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex functionAl-Deri, Noraldin; Okur, Volkan; Ahimaz, Priyanka; Milev, Miroslav; Valivullah, Zaheer; Hagen, Jacob; Sheng, Yufeng; Chung, Wendy; Sacher, Michael; Ganapathi, Mythily 分享 收藏 Early-Onset Parkinsonism Is a Manifestation of thePPP2R5Dp.E200KMutationKim, Christine Y.; Wirth, Thomas; Hubsch, Cecile; Nemeth, Andrea H.; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G.; Cortes, Etty; Alcalay, Roy N.; Chung, Wendy K. 分享 收藏 分享 收藏 De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentOkur, Volkan; Cho, Megan T.; van Wijk, Richard; van Oirschot, Brigitte; Picker, Jonathan; Coury, Stephanie A.; Grange, Dorothy; Manwaring, Linda; Krantz, Ian; Muraresku, Colleen Clark; Hulick, Peter J.; May, Holley; Pierce, Eric; Place, Emily; Bujakowska, Kinga; Telegrafi, Aida; Douglas, Ganka; Monaghan, Kristin G.; Begtrup, Amber; Wilson, Ashley; Retterer, Kyle; Anyane-Yeboa, Kwame; Chung, Wendy K. 分享 收藏 Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental DisorderGanapathi, Mythily; Padgett, Leah R.; Yamada, Kentaro; Devinsky, Orrin; Willaert, Rebecca; Person, Richard; Au, Ping-Yee Billie; Tagoe, Julia; McDonald, Marie; Karlowicz, Danielle; Wolf, Barry; Lee, Joanna; Shen, Yufeng; Okur, Volkan; Deng, Liyong; LeDuc, Charles A.; Wang, Jiayao; Hanner, Ashleigh; Mirmira, Raghavendra G.; Park, Myung Hee; Mastracci, Teresa L.; Chung, Wendy K. 分享 收藏 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresOkur, Volkan; Cho, Megan T.; Henderson, Lindsay; Retterer, Kyle; Schneider, Michael; Sattler, Shannon; Niyazov, Dmitriy; Azage, Meron; Smith, Sharon; Picker, Jonathan; Lincoln, Sharyn; Tarnopolsky, Mark; Brady, Lauren; Bjornsson, Hans T.; Applegate, Carolyn; Dameron, Amy; Willaert, Rebecca; Baskin, Berivan; Juusola, Jane; Chung, Wendy K. 分享 收藏 分享 收藏 Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmiaSemerci, C. Nur; Kalay, Ersan; Yildirim, Cem; Dincer, Tuba; Olmez, Akgun; Toraman, Bayram; Kocyigit, Ali; Bulgu, Yunus; Okur, Volkan; Satiroglu-Tufan, Lale; Akarsu, Nurten A. 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
