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S

Saima Riazuddin

nih national institute on deafness and other communication disorders
H指数:52
被引数:9,603

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Bi-allelic missense variants in human GPN2 result in Perrault syndrome

人类GPN2基因的双等位错义变异导致佩罗综合征

American Journal of Human Genetics
IF8.1
2026-07-010
OAAI
Smith, Thomas B.; Faridi, Rabia; Demain, Leigh A. M.; Inagaki, Sayaka; Ishibashi, Yasuko; Thomas, Huw B.; Belyantseva, Inna A.; Rea, Alessandro; Lai, King Lam; Maqbool, Arshia; Rauf, Bushra; Usmani, Muhammad Asad; Schaffer, Alejandro A.; Morell, Robert J.; Green, Andrew; Ghedia, Sondhya; Wilding, Mathilda; Hay, Robin; Sokolova, Yuliya; P. Riordan, Gavin; Schrauwen, Isabelle; Liaqat, Khurram; Riazuddin, Saima; Ahmed, Zubair M.; Chien, Wade W.; He, Langping; McGovern, Amanda; Byers, Helen; Beaman, Glenda M.; Ahmad, Wasim; Leal, Suzanne M.; Taylor, Robert W.; Riazuddin, Sheikh; O'Keefe, Raymond T.; B. Friedman, Thomas; G. Newman, William
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models

KLHL13功能缺陷会导致人类神经发育障碍，该障碍可通过抑制AURKB在细胞和动物模型中得到挽救。

Genetics in Medicine
IF6.2
2025-10-250
PRE
Tehmeena Akhter; Zubair M. Ahmed; Yaping Ji; Axel Schmidt; Meron Azage; Maria Palomares; Kirsten Cremer; Hartmut Engels; Jennifer O. Murphy; Sophia Peters; Elisabeth Mangold; Gomez-Cano MLÁ; Rodney J. Taylor; Sheikh Riazuddin; Saima Riazuddin
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

作者更正：CIB2钙离子和整合素结合蛋白的变异导致Usher综合征1J型和DFNB48非综合征性耳聋

Nature Genetics
IF0
2025-08-260
PRE
Saima Riazuddin; Inna A. Belyantseva; Arnaud P. J. Giese; Kwanghyuk Lee; Artur A. Indzhykulian; Sri Pratima Nandamuri; Rizwan Yousaf; Ghanshyam P. Sinha; Sue Lee; David Terrell; Rashmi S. Hegde; Rana A. Ali; Saima Anwar; Paula B. Andrade-Elizondo; Asli Sirmaci; Leslie V. Parise; Sulman Basit; Abdul Wali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad; Shaheen N. Khan; Javed Akram; Mustafa Tekin; Sheikh Riazuddin; Tiffany Cook; Elke K. Buschbeck; Gregory I. Frolenkov; Suzanne M. Leal; Thomas B. Friedman; Zubair M. Ahmed
A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans

一种新型的SLPI剪接变体使人类易患中耳炎

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
2025-02-070
OA
Elling, Christina L.; Ryan, Allen F.; Yarza, Talitha Karisse L.; Ghaffar, Amama; Llanes, Erasmo Gonzalo d. V.; Kofonow, Jennifer M.; Reyes-Quintos, Maria Rina T.; Riazuddin, Saima; Robertson, Charles E.; Tantoco, Ma. Leah C.; Ahmed, Zubair M.; Chan, Abner L.; Frank, Daniel N.; Chiong, Charlotte M.; Santos-Cortez, Regie Lyn P.
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
COMMUNICATIONS BIOLOGY
IF5.1
2024-07-082
OAAI
Ghaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
NATURE MEDICINE
IF50
2023-03-1626
OAAI
Greene, Daniel; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud P. J.; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D.; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire L. S.; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L.; Morisaki, Hiroko; Ahmed, Zubair M.; Birdsey, Graeme M.; Freson, Kathleen; Mumford, Andrew; Turro, Ernest
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-04-0131
OAAI
Broly, Martin; Polevoda, Bogdan, V; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L. E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S.; Brown, Natasha; Riazuddin, Saima; Bezieau, Stephane; Fu, Dragony; Isidor, Bertrand; Cogne, Benjamin; O'Connell, Mitchell R.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

SPATA5L1中的双等位基因变体导致智力障碍，痉挛性肌张力障碍性脑瘫，癫痫和听力损失

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-10-0115
OAAI
Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-07-0119
OAAI
Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
GENETICS IN MEDICINE
IF6.2
2021-07-017
OAAI
Polla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H. M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P. M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-06-169
OAAI
Bharadwaj, Thashi; Schrauwen, Isabelle; Rehman, Sakina; Liaqat, Khurram; Acharya, Anushree; Giese, Arnaud P. J.; Nouel-Saied, Liz M.; Nasir, Abdul; Everard, Jenna L.; Pollock, Lana M.; Zhu, Shaoyuan; Bamshad, Michael J.; Nickerson, Deborah A.; Ali, Raja Hussain; Ullah, Asmat; Wali, Abdul; Ali, Ghazanfar; Santos-Cortez, Regie Lyn P.; Ahmed, Zubair M.; McDermott Jr, Brian M.; Ansar, Muhammad; Riazuddin, Saima; Ahmad, Wasim; Leal, Suzanne M.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes
HUMAN GENETICS
IF3.6
2021-01-024
PREAI
Ali, Muhammad; Khan, Shahid Y.; Rodrigues, Tony A.; Francisco, Tania; Jiao, Xiaodong; Qi, Hang; Kabir, Firoz; Irum, Bushra; Rauf, Bushra; Khan, Asma A.; Mehmood, Azra; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Ali, Muhammad Hassaan; Shahzad, Mohsin; Abu-Amero, Khaled K.; Akram, Shehla Javed; Akram, Javed; Riazuddin, Sheikh; Riazuddin, Saima; Robinson, Michael L.; Baes, Myriam; Azevedo, Jorge E.; Hejtmancik, J. Fielding; Riazuddin, S. Amer

研究方向

暂未获取到该数据
Z
Zubair M. Ahmed
H 指数:54论文数:203被引数:1.2万
S
Sheikh Riazuddin
H 指数:69论文数:315被引数:1.5万
T
Thomas B. Friedman
H 指数:74论文数:322被引数:1.7万
S
Shaheen N. Khan
H 指数:39论文数:153被引数:5,784
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
R
Robert J. Morell
H 指数:50论文数:133被引数:9,063
M
Mohsin Shahzad
H 指数:21论文数:53被引数:1,599
A
Arnaud P. J. Giese
H 指数:15论文数:41被引数:1,130
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,986
E
Edward R. Wilcox
H 指数:36论文数:95被引数:6,216