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M

Mohammad Shboul

Jordan University of Science and Technology
H指数:24
被引数:2,026

个人简介

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工作经历

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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing
EMBO MOLECULAR MEDICINE
IF8.3
2023-01-184
OAAI
Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Traspas, Ricardo Moreno; Chia, Poh Hui; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Saribas, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El-Khateeb, Mohammad; Fathallah, Rajaa; Casanova, Jean-Laurent; Soror, Wesam; Arafat, Alaa; Escande-Beillard, Nathalie; Mayer, Andreas; Reversade, Bruno
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
NATURE COMMUNICATIONS
IF15.7
2022-10-1318
OAAI
Mascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem Kiran; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang; Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Reversade, Bruno; Wagner, Eric J.
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009)
NATURE GENETICS
IF31.8
2022-01-212
OA
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6
DEVELOPMENT
IF3.6
2020-01-0117
OAAI
Trott, Jamie; Alpagu, Yunus; Tan, Ee Kim; Shboul, Mohammad; Dawood, Yousif; Elsy, Michael; Wollmann, Heike; Tano, Vincent; Bonnard, Carine; Eng, Shermaine; Narayanan, Gunaseelan; Junnarkar, Seetanshu; Wearne, Stephen; Strutt, James; Kumar, Aakash; Tomaz, Lucian B.; Goy, Pierre-Alexis; Mzoughi, Slim; Jennings, Rachel; Hagoort, Jaco; Eskin, Ascia; Lee, Hane; Nelson, Stanley F.; Al-Kazaleh, Fawaz; El-Khateeb, Mohammad; Fathallah, Rajaa; Shah, Harsha; Goeke, Jonathan; Langley, Sarah R.; Guccione, Ernesto; Hanley, Neil; De Bakker, Bernadette S.; Reversade, Bruno; Dunn, N. Ray
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2017-04-0125
OAAI
Xue, Shifeng; Maluenda, Jerome; Marguet, Florent; Shboul, Mohammad; Quevarec, Loic; Bonnard, Carine; Ng, Alvin Yu Jin; Tohari, Sumanty; Thong Teck Tan; Kong, Mung Kei; Monaghan, Kristin G.; Cho, Megan T.; Siskind, Carly E.; Sampson, Jacinda B.; Rocha, Carolina Tesi; Alkazaleh, Fawaz; Gonzales, Marie; Rigonnot, Luc; Whalen, Sandra; Gut, Marta; Gut, Ivo; Bucourt, Martine; Venkatesh, Byrappa; Laquerriere, Annie; Reversade, Bruno; Melki, Judith

研究方向

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B
Bruno Reversade
H 指数:55论文数:281被引数:1.0万
H
Hane Lee
H 指数:56论文数:234被引数:1.3万
S
Stanley F. Nelson
H 指数:98论文数:422被引数:3.6万
H
Hanan Hamamy
H 指数:34论文数:142被引数:4,785
B
Barry Merriman
H 指数:55论文数:156被引数:1.9万
H 指数:0论文数:13被引数:33
H
Hülya Kayserili
H 指数:71论文数:351被引数:2.0万
N
Nathalie Escande‐Beillard
H 指数:16论文数:41被引数:933
A
Ali Al Kaissi
H 指数:19论文数:196被引数:1,542
M
Mohammad El-Khateeb
H 指数:18论文数:43被引数:7,194