Recessive mutations of TMC1 associated with moderate to severe hearing loss

Autor Imtiaz, Ayesha, Maqsood, Azra, Rehman, Atteeq U., Morell, Robert J., Holt, Jeffrey R., Friedman, Thomas B., Naz, Sadaf
Vydáno v Neurogenetics (2016)

DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3

Autor Ali, Rana A., Rehman, Atteeq U., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Friedman, Thomas B., Ahmed, Zubair M., Riazuddin, Saima
Vydáno 2011

Defects in the alternative splicing-dependent regulation of REST cause deafness

Autor Nakano, Yoko, Kelly, Michael C., Rehman, Atteeq U., Boger, Erich T., Morell, Robert J., Kelley, Matthew W., Friedman, Thomas B., Bánfi, Botond
Vydáno v Cell (2018)

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Autor Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Vydáno v Eur J Hum Genet (2019)

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Autor Faridi, Rabia, Rehman, Atteeq U., Morell, Robert J., Friedman, Penelope L., Demain, Leigh, Zahra, Sana, Khan, Asma Ali, Tohlob, Dalia, Assir, Muhammad Zaman, Beaman, Glenda, Khan, Shaheen N., Newman, William G., Riazuddin, Sheikh, Friedman, Thomas B.
Vydáno v Clin Genet (2016)

Genetic causes of moderate to severe hearing loss point to modifiers

Autor Naz, Sadaf, Imtiaz, Ayesha, Mujtaba, Ghulam, Maqsood, Azra, Bashir, Rasheeda, Bukhari, Ihtisham, Khan, Muhammad R., Ramzan, Memoona, Fatima, Amara, Rehman, Atteeq U., Iqbal, Muddassar, Chaudhry, Taimur, Lund, Merete, Brewer, Carmen C., Morell, Robert J., Friedman, Thomas B.
Vydáno v Clin Genet (2016)

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Autor Rehman, Atteeq U., Bird, Jonathan E., Faridi, Rabia, Shahzad, Mohsin, Shah, Sujay, Lee, Kwanghyuk, Khan, Shaheen N., Imtiaz, Ayesha, Ahmed, Zubair M., Riazuddin, Saima, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Vydáno v Hum Mutat (2016)

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

Autor Zein, Wadih M., Falsini, Benedetto, Tsilou, Ekaterina T., Turriff, Amy E., Schultz, Julie M., Friedman, Thomas B., Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Muskett, Julie A., Rehman, Atteeq U., Morell, Robert J., Griffith, Andrew J., Sieving, Paul A.
Vydáno v Invest Ophthalmol Vis Sci (2015)

Grxcr2 is required for stereocilia morphogenesis in the cochlea

Autor Avenarius, Matthew R., Jung, Jae-Yun, Askew, Charles, Jones, Sherri M., Hunker, Kristina L., Azaiez, Hela, Rehman, Atteeq U., Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J. H., Géléoc, Gwenaëlle S. G., Dolan, David F., Raphael, Yehoash, Kohrman, David C.
Vydáno v PLoS One (2018)

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

Autor Faridi, Rabia, Tona, Risa, Brofferio, Alessandra, Hoa, Michael, Olszewski, Rafal, Schrauwen, Isabelle, Assir, Muhammad Z.K., Bandesha, Akhtar A., Khan, Asma A., Rehman, Atteeq U., Brewer, Carmen, Ahmed, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Boyden, Steven E., Friedman, Thomas B.
Vydáno v Hum Mutat (2018)

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Autor Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Vydáno 2011

Harnessing molecular motors for nanoscale pulldown in live cells

Autor Bird, Jonathan E., Barzik, Melanie, Drummond, Meghan C., Sutton, Daniel C., Goodman, Spencer M., Morozko, Eva L., Cole, Stacey M., Boukhvalova, Alexandra K., Skidmore, Jennifer, Syam, Diana, Wilson, Elizabeth A., Fitzgerald, Tracy, Rehman, Atteeq U., Martin, Donna M., Boger, Erich T., Belyantseva, Inna A., Friedman, Thomas B.
Vydáno v Mol Biol Cell (2017)

NCOR1/2 loss of function impairs memory through a novel GABAergic hypothalamus–CA3 projection

Autor Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U., Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O’Driscoll, Mary, Morton, Jenny E.V., Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Vydáno v Nat Neurosci (2019)

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Autor Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A., Raza, Syed I., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Riazuddin, Saima, Billington, Neil, Khan, Shaheen N., Friedman, Penelope L., Griffith, Andrew J., Ahmad, Wasim, Riazuddin, Sheikh, Leal, Suzanne M., Friedman, Thomas B.
Vydáno 2014

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Autor Richard, Elodie M., Santos-Cortez, Regie LP., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Shahzad, Mohsin, Acharya, Anushree, Khan, Asma A., Imtiaz, Ayesha, Chakchouk, Imen, Takla, Christina, Abbe, Izoduwa, Rafeeq, Maria, Liaqat, Khurram, Chaudhry, Taimur, Bamshad, Michael J., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheik, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima
Vydáno v Hum Mutat (2018)

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Autor Santos-Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Ansar, Muhammad, Wang, Xin, Morell, Robert J., Isaacson, Rivka, Belyantseva, Inna A., Dai, Hang, Acharya, Anushree, Qaiser, Tanveer A., Muhammad, Dost, Ali, Rana Amjad, Shams, Sulaiman, Hassan, Muhammad Jawad, Shahzad, Shaheen, Raza, Syed Irfan, Bashir, Zil-e-Huma, Smith, Joshua D., Nickerson, Deborah A., Bamshad, Michael J., Riazuddin, Sheikh, Ahmad, Wasim, Friedman, Thomas B., Leal, Suzanne M.
Vydáno v Am J Hum Genet (2016)

CDC14A phosphatase is essential for hearing and male fertility in mouse and human

Autor Imtiaz, Ayesha, Belyantseva, Inna A, Beirl, Alisha J, Fenollar-Ferrer, Cristina, Bashir, Rasheeda, Bukhari, Ihtisham, Bouzid, Amal, Shaukat, Uzma, Azaiez, Hela, Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Maqsood, Azra, Wilson, Elizabeth A, Fitzgerald, Tracy S, Tlili, Abdelaziz, Olszewski, Rafal, Lund, Merete, Chaudhry, Taimur, Rehman, Atteeq U, Starost, Matthew F, Waryah, Ali M, Hoa, Michael, Dong, Lijin, Morell, Robert J, Smith, Richard J H, Riazuddin, Sheikh, Masmoudi, Saber, Kindt, Katie S, Naz, Sadaf, Friedman, Thomas B
Vydáno v Hum Mol Genet (2018)

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Autor Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Vydáno v Eur J Hum Genet (2015)

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Autor Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.
Vydáno 2013

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Autor Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Vydáno v Hum Mutat (2018)