Genomic Variants and Variations in Malformations of Cortical Development

Bằng Jamuar, Saumya S., Walsh, Christopher A.
Xuất bản năm Pediatr Clin North Am (2015)

Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia

Bằng Jamuar, Saumya S., Lai, Angeline H.M.
Được phát hành 2012

Clinical application of next-generation sequencing for Mendelian diseases

Bằng Jamuar, Saumya Shekhar, Tan, Ene-Choo
Xuất bản năm Hum Genomics (2015)

Feeding difficulty in an infant: an unusual cause

Bằng Qadri, Syeda Kashfi, Logarajah, Veena, Nah, Shireen Anne, Jamuar, Saumya Shekhar
Xuất bản năm BMJ Case Rep (2018)

AB093. Report of a SMARCA4 variant identified in a patient with Coffin-Siris syndrome

Bằng Loke, Mun Fai, Jamuar, Saumya Shekhar, Lim, Eileen Chew Ping, Tan, Ene Choo
Xuất bản năm Ann Transl Med (2017)

AB118. Validation of next generation sequencing by Sanger sequencing

Bằng Low, Meow Hong Wendy, Lai, Hwei Meeng Angeline, Jamuar, Saumya Shekhar, Law, Hai Yang
Xuất bản năm Ann Transl Med (2015)

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome

Bằng Koh, Ai‐Ling, Tan, Ee‐Shien, Brett, Maggie S., Lai, Angeline H. M., Jamuar, Saumya Shekhar, Ng, Ivy, Tan, Ene‐Choo
Xuất bản năm Mol Genet Genomic Med (2019)

Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms

Bằng D’Gama, Alissa Maria, Pochareddy, Sirisha, Li, Mingfeng, Jamuar, Saumya Shekhar, Reiff, Rachel Elizabeth, Lam, Anh-Thu Ngoc, Sestan, Nenad, Walsh, Christopher A
Xuất bản năm Neuron (2015)

From Big Data to Precision Medicine

Bằng Hulsen, Tim, Jamuar, Saumya S., Moody, Alan R., Karnes, Jason H., Varga, Orsolya, Hedensted, Stine, Spreafico, Roberto, Hafler, David A., McKinney, Eoin F.
Xuất bản năm Front Med (Lausanne) (2019)

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Bằng Lim, Eileen C. P., Brett, Maggie, Lai, Angeline H. M., Lee, Siew-Peng, Tan, Ee-Shien, Jamuar, Saumya S., Ng, Ivy S. L., Tan, Ene-Choo
Xuất bản năm Hum Genomics (2015)

AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome

Bằng 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
Xuất bản năm Ann Transl Med (2015)

Evaluation of family health history collection methods impact on data and risk assessment outcomes

Bằng 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
Xuất bản năm Prev Med Rep (2020)

Implementation of genomics in medical practice to deliver precision medicine for an Asian population

Bằng 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
Xuất bản năm NPJ Genom Med (2019)

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Bằng 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
Xuất bản năm EBioMedicine (2016)

Family history assessment significantly enhances delivery of precision medicine in the genomics era

Bằng 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
Xuất bản năm Genome Med (2021)

Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era

Bằng 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
Xuất bản năm Genome Med (2021)

DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome

Bằng 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
Xuất bản năm Hum Mutat (2017)

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

Bằng 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.
Xuất bản năm Nat Genet (2017)

Somatic Mutations in Cerebral Cortical Malformations

Bằng 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.
Xuất bản năm N Engl J Med (2014)

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Bằng 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.
Xuất bản năm Genet Med (2021)