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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. [electronic resource] by
- Rehman, Atteeq Ur
- Morell, Robert J
- Belyantseva, Inna A
- Khan, Shahid Y
- Boger, Erich T
- Shahzad, Mohsin
- Ahmed, Zubair M
- Riazuddin, Saima
- Khan, Shaheen N
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20100415
In:
American journal of human genetics vol. 86
Availability: No items available.
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5.
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DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. [electronic resource] by
- Khan, Shahid Yar
- Riazuddin, Saima
- Shahzad, Mohsin
- Ahmed, Nazir
- Zafar, Ahmad Usman
- Rehman, Atteeq Ur
- Morell, Robert J
- Griffith, Andrew J
- Ahmed, Zubair M
- Riazuddin, Sheikh
- Friedman, Thomas B
Producer: 20100222
In:
European journal of human genetics : EJHG vol. 18
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6.
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Genetic causes of moderate to severe hearing loss point to modifiers. [electronic resource] by
- 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
Producer: 20170630
In:
Clinical genetics vol. 91
Availability: No items available.
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7.
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Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. [electronic resource] by
- 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
Producer: 20171107
In:
Human mutation vol. 37
Availability: No items available.
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8.
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Grxcr2 is required for stereocilia morphogenesis in the cochlea. [electronic resource] by
- 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
Producer: 20190204
In:
PloS one vol. 13
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9.
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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. [electronic resource] by
- 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
Producer: 20120118
In:
Human genetics vol. 130
Availability: No items available.
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Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. [electronic resource] by
- 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
Producer: 20150310
In:
Investigative ophthalmology & visual science vol. 56
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Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. [electronic resource] by
- 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
Producer: 20200309
In:
Human mutation vol. 40
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Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. [electronic resource] by
- Ahmed, Zubair M
- Yousaf, Rizwan
- Lee, Byung Cheon
- Khan, Shaheen N
- Lee, Sue
- Lee, Kwanghyuk
- Husnain, Tayyab
- Rehman, Atteeq Ur
- Bonneux, Sarah
- Ansar, Muhammad
- Ahmad, Wasim
- Leal, Suzanne M
- Gladyshev, Vadim N
- Belyantseva, Inna A
- Van Camp, Guy
- Riazuddin, Sheikh
- Friedman, Thomas B
- Riazuddin, Saima
Producer: 20110203
In:
American journal of human genetics vol. 88
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13.
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Harnessing molecular motors for nanoscale pulldown in live cells. [electronic resource] by
- 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
Producer: 20170921
In:
Molecular biology of the cell vol. 28
Availability: No items available.
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14.
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Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection. [electronic resource] by
- 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
Publication details: Nature neuroscience Sep 2019
In:
Nature neuroscience vol. 22
Availability: No items available.
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15.
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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection. [electronic resource] by
- 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
Producer: 20190520
In:
Nature neuroscience vol. 22
Availability: No items available.
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16.
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TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing. [electronic resource] by
- Katsuno, Tatsuya
- Belyantseva, Inna A
- Cartagena-Rivera, Alexander X
- Ohta, Keisuke
- Crump, Shawn M
- Petralia, Ronald S
- Ono, Kazuya
- Tona, Risa
- Imtiaz, Ayesha
- Rehman, Atteeq
- Kiyonari, Hiroshi
- Kaneko, Mari
- Wang, Ya-Xian
- Abe, Takaya
- Ikeya, Makoto
- Fenollar-Ferrer, Cristina
- Riordan, Gavin P
- Wilson, Elisabeth A
- Fitzgerald, Tracy S
- Segawa, Kohei
- Omori, Koichi
- Ito, Juichi
- Frolenkov, Gregory I
- Friedman, Thomas B
- Kitajiri, Shin-Ichiro
Producer: 20200824
In:
JCI insight vol. 4
Availability: No items available.
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17.
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Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. [electronic resource] by
- 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
Producer: 20140224
In:
American journal of human genetics vol. 94
Availability: No items available.
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18.
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. [electronic resource] by
- Richard, Elodie M
- Santos-Cortez, Regie Lyn P
- 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
- Nickerson, Deborah A
- Schrauwen, Isabelle
- Khan, Shaheen N
- Morell, Robert J
- Zafar, Saba
- Ansar, Muhammad
- Ahmed, Zubair M
- Ahmad, Wasim
- Riazuddin, Sheikh
- Friedman, Thomas B
- Leal, Suzanne M
- Riazuddin, Saima
Producer: 20200306
In:
Human mutation vol. 40
Availability: No items available.
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19.
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Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. [electronic resource] by
- 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
Producer: 20160622
In:
American journal of human genetics vol. 98
Availability: No items available.
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20.
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CDC14A phosphatase is essential for hearing and male fertility in mouse and human. [electronic resource] by
- 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
Producer: 20190104
In:
Human molecular genetics vol. 27
Availability: No items available.
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