Not logged in Share Save
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (vol 23, pg 2415, 2021) Guimier, Anne; Achleitner, Melanie T.; de Bellaing, Anne Moreau; Edwards, Matthew; de Pontual, Loic; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clemantino; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; V. Knowles, Charlotte; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C. E.; Turner, Claire L. S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit Share Save
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families Guimier, Anne; Achleitner, Melanie T.; de Bellaing, Anne Moreau; Edwards, Matthew; de Pontual, Loic; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clemantine; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; Knowles, Charlotte V.; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C. E.; Turner, Claire L. S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit Share Save
Cadherin 2-Related Arrhythmogenic Cardiomyopathy Prevalence and Clinical Features Ghidoni, Alice; Elliott, Perry M.; Syrris, Petros; Calkins, Hugh; James, Cynthia A.; Judge, Daniel P.; Murray, Brittney; Barc, Julien; Probst, Vincent; Schott, Jean Jacques; Song, Jiang-Ping; Hauer, Richard N. W.; Hoorntje, Edgar T.; van Tintelen, J. Peter; Schulze-Bahr, Eric; Hamilton, Robert M.; Mittal, Kirti; Semsarian, Christopher; Behr, Elijah R.; Ackerman, Michael J.; Basso, Cristina; Parati, Gianfranco; Gentilini, Davide; Kotta, Maria-Christina; Mayosi, Bongani M.; Schwartz, Peter J.; Crotti, Lia Share Save
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy Roberts, Jason D.; Murphy, Nathaniel P.; Hamilton, Robert M.; Lubbers, Ellen R.; James, Cynthia A.; Kline, Crystal F.; Gollob, Michael H.; Krahn, Andrew D.; Sturm, Amy C.; Musa, Hassan; El-Refaey, Mona; Koenig, Sara; Aneq, Meriam Astrom; Hoorntje, Edgar T.; Graw, Sharon L.; Davies, Robert W.; Rafiq, Muhammad Arshad; Koopmann, Tamara T.; Aafaqi, Shabana; Fatah, Meena; Chiasson, David A.; Taylor, Matthew R. G.; Simmons, Samantha L.; Han, Mei; van Opbergen, Chantal J. M.; Wold, Loren E.; Sinagra, Gianfranco; Mittal, Kirti; Tichnell, Crystal; Murray, Brittney; Codima, Alberto; Nazer, Babak; Nguyen, Duy T.; Marcus, Frank I.; Sobriera, Nara; Lodder, Elisabeth M.; van den Berg, Maarten P.; Spears, Danna A.; Robinson, John F.; Ursell, Philip C.; Green, Anna K.; Skanes, Allan C.; Tang, Anthony S.; Gardner, Martin J.; Hegele, Robert A.; van Veen, Toon A. B.; Wilde, Arthur A. M.; Healey, Jeff S.; Janssen, Paul M. L.; Mestroni, Luisa; van Tintelen, J. Peter; Calkins, Hugh; Judge, Daniel P.; Hund, Thomas J.; Scheinman, Melvin M.; Mohler, Peter J. Share Save
Share Save
An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis Chatterjee, Diptendu; Fatah, Meena; Akdis, Deniz; Spears, Danna A.; Koopmann, Tamara T.; Mittal, Kirti; Rafiq, Muhammad A.; Cattanach, Bruce M.; Zhao, Qili; Healey, Jeff S.; Ackerman, Michael J.; Bos, Johan Martijn; Sun, Yu; Maynes, Jason T.; Brunckhorst, Corinna; Medeiros-Domingo, Argelia; Duru, Firat; Saguner, Ardan M.; Hamilton, Robert M. Share Save
A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain Mittal, Kirti; Goncalves, Vanessa F.; Harripaul, Ricardo; Cuperfain, Ari B.; Rollins, Brandi; Tiwari, Arun K.; Zai, Clement C.; Maciukiewicz, Malgorzata; Muller, Daniel J.; Vawter, Marquis P.; Kennedy, James L. Share Save
Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse Ung, D. C.; Iacono, G.; Meziane, H.; Blanchard, E.; Papon, M-A; Selten, M.; van Rhijn, J-R; Montjean, R.; Rucci, J.; Martin, S.; Fleet, A.; Birling, M-C; Marouillat, S.; Roepman, R.; Selloum, M.; Lux, A.; Thepault, R-A; Hamel, P.; Mittal, K.; Vincent, J. B.; Dorseuil, O.; Stunnenberg, H. G.; Billuart, P.; Kasri, N. Nadif; Herault, Y.; Laumonnier, F. Share Save
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families Harripaul, R.; Vasli, N.; Mikhailov, A.; Rafiq, M. A.; Mittal, K.; Windpassinger, C.; Sheikh, T. I.; Noor, A.; Mahmood, H.; Downey, S.; Johnson, M.; Vleuten, K.; Bell, L.; Ilyas, M.; Khan, F. S.; Khan, V.; Moradi, M.; Ayaz, M.; Naeem, F.; Heidari, A.; Ahmed, I.; Ghadami, S.; Agha, Z.; Zeinali, S.; Qamar, R.; Mozhdehipanah, H.; John, P.; Mir, A.; Ansar, M.; French, L.; Ayub, M.; Vincent, J. B. Share Save
Share Save
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability Heidari, Abolfazl; Tongsook, Chanakan; Najafipour, Reza; Musante, Luciana; Vasli, Nasim; Garshasbi, Masoud; Hu, Hao; Mittal, Kirti; McNaughton, Amy J. M.; Sritharan, Kumudesh; Hudson, Melissa; Stehr, Henning; Talebi, Saeid; Moradi, Mohammad; Darvish, Hossein; Rafiq, Muhammad Arshad; Mozhdehipanah, Hossein; Rashidinejad, Ali; Samiei, Shahram; Ghadami, Mohsen; Windpassinger, Christian; Gillessen-Kaesbach, Gabriele; Tzschach, Andreas; Ahmed, Iltaf; Mikhailov, Anna; Stavropoulos, D. James; Carter, Melissa T.; Keshavarz, Soraya; Ayub, Muhammad; Najmabadi, Hossein; Liu, Xudong; Ropers, Hans Hilger; Macheroux, Peter; Vincent, John B. Share Save
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes Noor, Abdul; Dupuis, Lucie; Mittal, Kirti; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stockley, Tracy; Vincent, John B.; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J. Share Save
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment Ahmed, Iltaf; Buchert, Rebecca; Zhou, Mi; Jiao, Xinfu; Mittal, Kirti; Sheikh, Taimoor I.; Scheller, Ute; Vasli, Nasim; Rafiq, Muhammad Arshad; Brohi, M. Qasim; Mikhailov, Anna; Ayaz, Muhammad; Bhatti, Attya; Sticht, Heinrich; Nasr, Tanveer; Carter, Melissa T.; Uebe, Steffen; Reis, Andre; Ayub, Muhammad; John, Peter; Kiledjian, Megerditch; Vincent, John B.; Jamra, Rami Abou Share Save
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability Law, Rosalind; Dixon-Saazar, Tracy; Jerber, Julie; Cai, Na; Abbasi, Ansar A.; Zaki, Maha S.; Mittal, Kirti; Gabriel, Stacey B.; Rafiq, Muhammad Arshad; Khan, Valeed; Nguyen, Maria; Ali, Ghazanfar; Copeland, Brett; Scott, Eric; Vasli, Nasim; Mikhailov, Anna; Khan, Muhammad Nasim; Andrade, Danielle M.; Ayaz, Muhammad; Ansar, Muhammad; Ayub, Muhammad; Vincent, John B.; Gleeson, Joseph G. Share Save
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder Ahmed, Iltaf; Mittal, Kirti; Sheikh, Taimoor I.; Vasli, Nasim; Rafiq, Muhammad Arshad; Mikhailov, Anna; Ohadi, Mehrnaz; Mahmood, Huda; Rouleau, Guy A.; Bhatti, Attya; Ayub, Muhammad; Srour, Myriam; John, Peter; Vincent, John B. Share Save
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family Mir, Asif; Sritharan, Kumudesh; Mittal, Kirti; Vasli, Nasim; Araujo, Carolina; Jamil, Talal; Rafiq, Muhammad Arshad; Anwar, Zubair; Mikhailov, Anna; Rauf, Sobiah; Mahmood, Huda; Shakoor, Abdul; Ali, Sabir; So, Joyce; Naeem, Farooq; Ayub, Muhammad; Vincent, John B. Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}
