Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Journal Article
A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection
Molparia, Bhuvan, Oliveira, Glenn, Wagner, Jennifer L, Spencer, Emily G, Torkamani, Ali
Published in PloS one (23.05.2018)
Published in PloS one (23.05.2018)
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Journal Article
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases
Salfati, Elias L, Spencer, Emily G, Topol, Sarah E, Muse, Evan D, Rueda, Manuel, Lucas, Jonathan R, Wagner, Glenn N, Campman, Steven, Topol, Eric J, Torkamani, Ali
Published in Genome medicine (17.12.2019)
Published in Genome medicine (17.12.2019)
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Journal Article
Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study
Muse, Evan D, Wineinger, Nathan E, Spencer, Emily G, Peters, Melissa, Henderson, Riley, Zhang, Yunyue, Barrett, Paddy M, Rivera, Steven P, Wohlgemuth, Jay G, Devlin, James J, Shiffman, Dov, Topol, Eric J
Published in PLoS medicine (13.03.2018)
Published in PLoS medicine (13.03.2018)
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Journal Article
Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study
Muse, Evan D, Chen, Shang-Fu, Liu, Shuchen, Fernandez, Brianna, Schrader, Brian, Molparia, Bhuvan, León, André Nicolás, Lee, Raymond, Pubbi, Neha, Mejia, Nolan, Ren, Christina, El-Kalliny, Ahmed, Prado Montes de Oca, Ernesto, Aguilar, Hector, Ghoshal, Arjun, Dias, Raquel, Evans, Doug, Chen, Kai-Yu, Zhang, Yunyue, Wineinger, Nathan E, Spencer, Emily G, Topol, Eric J, Torkamani, Ali
Published in NPJ digital medicine (11.03.2022)
Published in NPJ digital medicine (11.03.2022)
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Journal Article
Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease
Molparia, Bhuvan, Schrader, Brian N, Cohen, Eli, Wagner, Jennifer L, Gupta, Sandeep R, Gould, Sherrie, Hwynn, Nelson, Spencer, Emily G, Torkamani, Ali
Published in PeerJ (San Francisco, CA) (20.07.2018)
Published in PeerJ (San Francisco, CA) (20.07.2018)
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Journal Article
Molecular Autopsy for Sudden Unexpected Death
Torkamani, Ali, Muse, Evan D, Spencer, Emily G, Rueda, Manuel, Wagner, Glenn N, Lucas, Jonathan R, Topol, Eric J
Published in JAMA : the journal of the American Medical Association (11.10.2016)
Published in JAMA : the journal of the American Medical Association (11.10.2016)
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Journal Article
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba A A, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F, Kumandaş, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat
Published in Neuron (Cambridge, Mass.) (07.01.2015)
Published in Neuron (Cambridge, Mass.) (07.01.2015)
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Journal Article
Novel STAMBP mutation and additional findings in an Arabic family
Faqeih, Eissa A., Bastaki, Laila, Rosti, Rasim Ozgur, Spencer, Emily G., Zada, AbdulAli P., Saleh, Mohammad A. M., Um, Kyongmi, Gleeson, Joseph G.
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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Journal Article
The Coronavirus Disease 2019 Rebound Study: A Prospective Cohort Study to Evaluate Viral and Symptom Rebound Differences in Participants Treated With Nirmatrelvir Plus Ritonavir Versus Untreated Controls
Pandit, Jay A, Radin, Jennifer M, Chiang, Danielle C, Spencer, Emily G, Pawelek, Jeff B, Diwan, Mira, Roumani, Leila, Mina, Michael J
Published in Clinical infectious diseases (05.07.2023)
Published in Clinical infectious diseases (05.07.2023)
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Journal Article
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (31.01.2014)
Published in Science (American Association for the Advancement of Science) (31.01.2014)
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Journal Article
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
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Journal Article
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder
Jones, Marilyn C, Topol, Sarah E, Rueda, Manuel, Oliveira, Glenn, Phillips, Tierney, Spencer, Emily G, Torkamani, Ali
Published in Genetics in medicine (01.10.2017)
Published in Genetics in medicine (01.10.2017)
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Journal Article
Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research
Chandler, Paulette D, Clark, Cheryl R, Zhou, Guohai, Noel, Nyia L, Achilike, Confidence, Mendez, Lizette, Ramirez, Andrea H, Loperena-Cortes, Roxana, Mayo, Kelsey, Cohn, Elizabeth, Ohno-Machado, Lucila, Boerwinkle, Eric, Cicek, Mine, Qian, Jun, Schully, Sheri, Ratsimbazafy, Francis, Mockrin, Stephen, Gebo, Kelly, Dedier, Julien J, Murphy, Shawn N, Smoller, Jordan W, Karlson, Elizabeth W
Published in Scientific reports (22.06.2021)
Published in Scientific reports (22.06.2021)
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Journal Article
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S., Hossni, Heba A.A., Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G., Rosti, Rasim Ö., Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F., Kumandaş, Sefer, Minja, Frank J., Erson-Omay, E. Zeynep, Mane, Shrikant M., Lifton, Richard P., Xu, Tian, Keshishian, Haig, Dobyns, William B., Chi, Neil C., Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G., Günel, Murat
Published in Neuron (Cambridge, Mass.) (17.12.2014)
Published in Neuron (Cambridge, Mass.) (17.12.2014)
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Journal Article
Mutations inKATNB1Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
Mishra-Gorur, Ketu, Çaglayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüs, Gözde Tugce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüs, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba AA, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çaglar, Caner, Çaglar, Çagri, Dölen, Duygu, Baranoski, Jacob F, Kumandas, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Sestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat
Published in Neuron (Cambridge, Mass.) (17.12.2014)
Published in Neuron (Cambridge, Mass.) (17.12.2014)
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Journal Article
Abstract 18065: Prospective Evaluation of a Genetic Risk Score for Atrial Fibrillation in Patients Undergoing Extended Cardiac Rhythm Monitoring
Muse, Evan D, Spencer, Emily G, Wineinger, Nathan E, Peters, Melissa, Barrett, Paddy, Rivera, Steven P, Wohlgemuth, Jay G, Devlin, James J, Shiffman, Dov X, Topol, Eric J
Published in Circulation (New York, N.Y.) (11.11.2016)
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Published in Circulation (New York, N.Y.) (11.11.2016)
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