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K

Kwanghyuk Lee

baylor college of medicine
H指数:21
被引数:1,598

个人简介

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荣誉奖项

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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease
BRAIN
IF11.7
2023-05-3012
PRE
Pinard, Amelie; Ye, Wenlei; Fraser, Stuart M.; Rosenfeld, Jill A.; Pichurin, Pavel; Hickey, Scott E.; Guo, Dongchuan; Cecchi, Alana C.; Boerio, Maura L.; Guey, Stephanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J.; Nickerson, Deborah A.; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R.; Kahle, Kristopher T.; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
HUMAN GENETICS
IF3.6
2019-04-1321
OAAI
Ullah, Irfan; Kakar, Naseebullah; Schrauwen, Isabelle; Hussain, Shabir; Chakchouk, Imen; Liaqat, Khurram; Acharya, Anushree; Wasif, Naveed; Santos-Cortez, Regie Lyn P.; Khan, Saadullah; Aziz, Abdul; Lee, Kwanghyuk; Couthouis, Julien; Horn, Denise; Kragesteen, Bjort K.; Spielmann, Malte; Thiele, Holger; Nickerson, Deborah A.; Bamshad, Michael J.; Gitler, Aaron D.; Ahmad, Jamil; Ansar, Muhammad; Borck, Guntram; Ahmad, Wasim; Leal, Suzanne M.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
JOURNAL OF MEDICAL GENETICS
IF3.7
2019-01-1948
PREAI
Hostetler, Ellen M.; Regalado, Ellen S.; Guo, Dong-Chuan; Hanna, Nadine; Arnaud, Pauline; Muino-Mosquera, Laura; Callewaert, Bert Louis; Lee, Kwanghyuk; Leal, Suzanne M.; Wallace, Stephanie E.; Rideout, Andrea L.; Dyack, Sarah; Aatre, Rajani D.; Boileau, Catherine; De Backer, Julie; Jondeau, Guillaume; Milewicz, Dianna M.
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
GENETICS IN MEDICINE
IF6.2
2019-01-0146
OAAI
Wallace, Stephanie E.; Regalado, Ellen S.; Gong, Limin; Janda, Alexandra L.; Guo, Dong-chuan; Russo, Claudio F.; Kulmacz, Richard J.; Hanna, Nadine; Jondeau, Guillaume; Boileau, Catherine; Arnaud, Pauline; Lee, Kwanghyuk; Leal, Suzanne M.; Hannuksela, Matias; Carlberg, Bo; Johnston, Tami; Antolik, Christian; Hostetler, Ellen M.; Colombo, Roberto; Milewicz, Dianna M.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
HUMAN MUTATION
IF3.7
2018-11-1865
OAAI
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
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2018-11-0536
OAAI
Schrauwen, Isabelle; Giese, Arnaud P. J.; Aziz, Abdul; Lafont, David Tino; Chakchouk, Imen; Santos-Cortez, Regie Lyn P.; Lee, Kwanghyuk; Acharya, Anushree; Khan, Falak Sher; Ullah, Asmat; Nickerson, Deborah A.; Bamshad, Michael J.; Ali, Ghazanfar; Riazuddin, Saima; Ansar, Muhammad; Ahmad, Wasim; Ahmed, Zubair M.; Leal, Suzanne M.
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

确认DHX38在早发性视网膜色素变性病因中的作用

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
2018-09-0117
OAAI
Latif, Zahid; Chakchouk, Imen; Schrauwen, Isabelle; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Abbe, Izoduwa; Acharya, Anushree; Jarral, Afeefa; Ali, Imran; Ullah, Ehsan; Khan, Muhammad Nasim; Ali, Ghazanfar; Tahir, Tufail Hussain; Bamshad, Michael J.; Nickerson, Deborah A.; Ahmad, Wasim; Ansar, Muhammad; Leal, Suzanne M.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
HUMAN GENETICS
IF3.6
2018-08-2250
OAAI
Santos-Cortez, Regie Lyn P.; Khan, Valeed; Khan, Falak Sher; Mughal, Zaib-un-Nisa; Chakchouk, Imen; Lee, Kwanghyuk; Rasheed, Memoona; Hamza, Rifat; Acharya, Anushree; Ullah, Ehsan; Saqib, Muhammad Arif Nadeem; Abbe, Izoduwa; Ali, Ghazanfar; Hassan, Muhammad Jawad; Khan, Saadullah; Azeem, Zahid; Ullah, Irfan; Bamshad, Michael J.; Nickerson, Deborah A.; Schrauwen, Isabelle; Ahmad, Wasim; Ansar, Muhammad; Leal, Suzanne M.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2016-02-0144
OAAI
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.
Mutation of ATF6 causes autosomal recessive achromatopsia
HUMAN GENETICS
IF3.6
2015-06-1178
OAAI
Ansar, Muhammad; Santos-Cortez, Regie Lyn P.; Saqib, Muhammad Arif Nadeem; Zulfiqar, Fareeha; Lee, Kwanghyuk; Ashraf, Naeem Mahmood; Ullah, Ehsan; Wang, Xin; Sajid, Sundus; Khan, Falak Sher; Amin-ud-Din, Muhammad; Smith, Joshua D.; Shendure, Jay; Bamshad, Michael J.; Nickerson, Deborah A.; Hameed, Abdul; Riazuddin, Saima; Ahmed, Zubair M.; Ahmad, Wasim; Leal, Suzanne M.
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
NATURE GENETICS
IF31.8
2015-04-20272
OAAI
Watkin, Levi B.; Jessen, Birthe; Wiszniewski, Wojciech; Vecel, Timothy J.; Jan, Max; Sha, Youbao; Thamsen, Maike; Santos-Cortez, Regie L. P.; Lee, Kwanghyuk; Gambint, Tomasz; Forbes, Lisa R.; Law, Christopher S.; Stray-Pedersenzt, Asbjorg; Cheng, Mickie H.; Mace, Emily M.; Anderson, Mark S.; Liu, Dongfang; Tang, Ling Fung; Nicholas, Sarah K.; Nahmod, Karen; Makedonas, George; Canter, Debra L.; Kwok, Pui-Yan; Hicks, John; Jones, Kirk D.; Penney, Samantha; Jhangiani, Shalini N.; Rosenblum, Michael D.; Dell, Sharon D.; Waterfield, Michael R.; Papa, Feroz R.; Muzny, Donna M.; Zaitlen, Noah; Leal, Suzanne M.; Gonzaga-Jaureguit, Claudia; Boerwinkle, Eric; Eissa, N. Tony; Gibbs, Richard A.; Lupski, James R.; Orange, Jordan S.; Shum, Anthony K.
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2014-12-1032
OAAI
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.
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
HUMAN MOLECULAR GENETICS
IF3.2
2014-01-2947
OAAI
Santos-Cortez, Regie Lyn P.; Lee, Kwanghyuk; Giese, Arnaud P.; Ansar, Muhammad; Amin-Ud-Din, Muhammad; Rehn, Kira; Wang, Xin; Aziz, Abdul; Chiu, Ilene; Ali, Raja Hussain; Smith, Joshua D.; Shendure, Jay; Bamshad, Michael; Nickerson, Deborah A.; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Saima; Leal, Suzanne M.

研究方向

暂未获取到该数据
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,990
D
Deborah A. Nickerson
H 指数:120论文数:675被引数:10.1万
M
Michael J. Bamshad
H 指数:96论文数:552被引数:4.5万
M
Muhammad Ansar
H 指数:32论文数:170被引数:4,385
R
Regie Lyn P. Santos‐Cortez
H 指数:22论文数:56被引数:2,764
J
Jay Shendure
H 指数:167论文数:674被引数:12.3万
A
Anushree Acharya
H 指数:20论文数:75被引数:1,226
S
Saima Riazuddin
H 指数:52论文数:207被引数:9,625
Z
Zubair M. Ahmed
H 指数:54论文数:203被引数:1.2万