検索結果 - Jamuar, Saumya S

Genomic Variants and Variations in Malformations of Cortical Development 著者: Jamuar, Saumya S., Walsh, Christopher A.

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Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia 著者: Jamuar, Saumya S., Lai, Angeline H.M.

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Clinical application of next-generation sequencing for Mendelian diseases 著者: Jamuar, Saumya Shekhar, Tan, Ene-Choo

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Transforming paediatric practice by leveraging on genomic medicine 著者: Koh, Ai Ling, Jamuar, Saumya Shekhar, Lai, Angeline Hwei Meeng

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Editorial: AI in Healthcare: From Data to Intelligence 著者: Hulsen, Tim, Petkovic, Milan, Varga, Orsolya Edit, Jamuar, Saumya Shekhar

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Feeding difficulty in an infant: an unusual cause 著者: Qadri, Syeda Kashfi, Logarajah, Veena, Nah, Shireen Anne, Jamuar, Saumya Shekhar

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AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome 著者: Loke, Mun Fai, Jamuar, Saumya Shekhar, Lim, Eileen Chew Ping, Tan, Ene Choo

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AB118. Validation of next generation sequencing by Sanger sequencing 著者: Low, Meow Hong Wendy, Lai, Hwei Meeng Angeline, Jamuar, Saumya Shekhar, Law, Hai Yang

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The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome 著者: Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo

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From Big Data to Precision Medicine 著者: Hulsen, Tim, Jamuar, Saumya S., Moody, Alan R., Karnes, Jason H., Varga, Orsolya, Hedensted, Stine, Spreafico, Roberto, Hafler, David A., McKinney, Eoin F.

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AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome 著者: Lim, Jiin Ying, Jamuar, Saumya Shekhar, Cham, Breana Wen Min, Brett, Maggie, Tan, Ee Shien, Ng, Ivy, Law, Hai Yang, Tan, Ene Choo, Lai, Angeline Hwei Meeng

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Evaluation of family health history collection methods impact on data and risk assessment outcomes 著者: Wu, R. Ryanne, Sultana, Rehena, Bylstra, Yasmin, Jamuar, Saumya, Davila, Sonia, Lim, Weng Khong, Ginsburg, Geoffrey S., Orlando, Lori A., Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick

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Implementation of genomics in medical practice to deliver precision medicine for an Asian population 著者: Bylstra, Yasmin, Davila, Sonia, Lim, Weng Khong, Wu, Ryanne, Teo, Jing Xian, Kam, Sylvia, Lysaght, Tamra, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart A., Tan, Patrick, Jamuar, Saumya Shekhar

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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? 著者: Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger

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Family history assessment significantly enhances delivery of precision medicine in the genomics era 著者: Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick

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Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era 著者: Bylstra, Yasmin, Lim, Weng Khong, Kam, Sylvia, Tham, Koei Wan, Wu, R. Ryanne, Teo, Jing Xian, Davila, Sonia, Kuan, Jyn Ling, Chan, Sock Hoai, Bertin, Nicolas, Yang, Cheng Xi, Rozen, Steve, Teh, Bin Tean, Yeo, Khung Keong, Cook, Stuart Alexander, Jamuar, Saumya Shekhar, Ginsburg, Geoffrey S., Orlando, Lori A., Tan, Patrick

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DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome 著者: Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

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Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome 著者: Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.

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Somatic Mutations in Cerebral Cortical Malformations 著者: Jamuar, Saumya S., Lam, Anh-Thu N., Kircher, Martin, D'Gama, Alissa M., Wang, Jian, Barry, Brenda J., Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N., Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K., Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E., Berkovic, Samuel F., Leventer, Richard J., Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S., Bamshad, Michael, Nickerson, Deborah A., Shendure, Jay, Poduri, Annapurna, Yu, Timothy W., Walsh, Christopher A.

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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features 著者: Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.

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