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Saumya S Jamuar, M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Lim JY, Bhatia NS, Vasanwala RF, Chay PL, Lim KBL, Khoo PC, Schwarze U, Jamuar SS. A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature. Clin Dysmorphol. 2019 Jul; 28(3):120-125. PMID: 30985308.
    Citations:    
  2. Chew YR, Lim JY, Teoh OH, Chen CK, Foo R, Lai AH, Jamuar SS. Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype. Clin Dysmorphol. 2019 Jul; 28(3):167-169. PMID: 30921097.
    Citations:    
  3. Ting CY, Bhatia NS, Lim JY, Goh CJ, Vasanwala RF, Ong CC, Seow WT, Yeow VK, Ting TW, Ng IS, Jamuar SS. Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. Eur J Med Genet. 2019 Apr 13. PMID: 30986546.
    Citations:    
  4. Hulsen T, Jamuar SS, Moody AR, Karnes JH, Varga O, Hedensted S, Spreafico R, Hafler DA, McKinney EF. From Big Data to Precision Medicine. Front Med (Lausanne). 2019; 6:34. PMID: 30881956.
    Citations:    
  5. Koh AL, Tan ES, Brett MS, Lai AHM, Jamuar SS, Ng I, Tan EC. The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. Mol Genet Genomic Med. 2019 04; 7(4):e00581. PMID: 30784236.
    Citations:    
  6. Bhatia NS, Lim JY, Brett MS, Tan EC, Law HY, Thomas B, Choo J, Lai AHM, Jamuar SS. Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature. Clin Dysmorphol. 2019 Jan; 28(1):53-56. PMID: 30507726.
    Citations:    Fields:    
  7. Bylstra Y, Kuan JL, Lim WK, Bhalshankar JD, Teo JX, Davila S, Teh BT, Rozen S, Tan EC, Liew WKM, Yeo KK, Tan P, Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. Genet Med. 2018 12; 20(12):1692. PMID: 30089799.
    Citations:    Fields:    
  8. Qadri SK, Logarajah V, Nah SA, Jamuar SS. Feeding difficulty in an infant: an unusual cause. BMJ Case Rep. 2018 Aug 23; 2018. PMID: 30139785.
    Citations:    Fields:    Translation:Humans
  9. Bylstra Y, Kuan JL, Lim WK, Bhalshankar JD, Teo JX, Davila S, Teh BT, Rozen S, Tan EC, Liew WKM, Yeo KK, Tan P, Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. Genet Med. 2019 01; 21(1):207-212. PMID: 29961769.
    Citations:    Fields:    
  10. Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 2018 05; 176(5):1128-1136. PMID: 29681090.
    Citations:    Fields:    
  11. Jamuar SS, Picker JD, Stoler JM. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. PMID: 29398060.
    Citations:    Fields:    
  12. Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am J Hum Genet. 2018 01 04; 102(1):116-132. PMID: 29290337.
    Citations:    Fields:    Translation:HumansAnimals
  13. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. PMID: 29068161.
    Citations:    Fields:    Translation:HumansCells
  14. Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. PMID: 28250456.
    Citations: 7     Fields:    Translation:HumansCells
  15. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down syndrome in diverse populations. Am J Med Genet A. 2017 Jan; 173(1):42-53. PMID: 27991738.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  16. Qadri SK, Ting TW, Lim JS, Jamuar SS. Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy. Ann Acad Med Singapore. 2016 Dec; 45(12):563-566. PMID: 28062886.
    Citations:    Fields:    Translation:Humans
  17. Brett M, Lai AH, Ting TW, Tan AM, Foo R, Jamuar S, Tan EC. Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation. Am J Med Genet A. 2017 02; 173(2):550-552. PMID: 27759915.
    Citations:    Fields:    Translation:HumansCells
  18. Jamuar SS, Kuan JL, Brett M, Tiang Z, Tan WL, Lim JY, Liew WK, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade B, Tan EC, Foo R. Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? EBioMedicine. 2016 Mar; 5:211-6. PMID: 27077130.
    Citations: 2     Fields:    Translation:Humans
  19. Bhattacharyya R, Tan AM, Chan MY, Jamuar SS, Foo R, Iyer P. TCR aß and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. Bone Marrow Transplant. 2016 05; 51(5):753-4. PMID: 26808564.
    Citations: 2     Fields:    Translation:Humans
  20. Ting TW, Brett MS, Cham BW, Lim JY, Law HY, Tan EC, Lai AH, Jamuar SS. DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature. Clin Dysmorphol. 2016 Jan; 25(1):37-40. PMID: 26513514.
    Citations:    Fields:    Translation:HumansCells
  21. Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Hum Genomics. 2015 Dec 14; 9:33. PMID: 26666243.
    Citations: 7     Fields:    Translation:Humans
  22. D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. PMID: 26637798.
    Citations: 21     Fields:    Translation:Humans
  23. Ting TW, Jamuar SS. Response to Letter by Finsterer and Zarrouk. Pediatr Cardiol. 2015 Oct; 36(7):1550. PMID: 26271473.
    Citations:    Fields:    
  24. Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH. Left Ventricular Non-compaction: Is It Genetic? Pediatr Cardiol. 2015 Dec; 36(8):1565-72. PMID: 26108892.
    Citations: 3     Fields:    Translation:HumansCells
  25. Jamuar SS, Tan EC. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics. 2015 Jun 16; 9:10. PMID: 26076878.
    Citations: 12     Fields:    Translation:Humans
  26. Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 2015 Oct; 174(10):1405-11. PMID: 25976726.
    Citations: 3     Fields:    Translation:Humans
  27. Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, Bhattacharya S, Crandall B, Kantarci S, Stoler JM, Lin AE. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. Am J Med Genet A. 2015 Jun; 167(6):1400-5. PMID: 25846266.
    Citations:    Fields:    Translation:HumansCells
  28. Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. PMID: 26022163.
    Citations: 7     Fields:    Translation:Humans
  29. Jamuar SS, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 11 20; 371(21):2038. PMID: 25409382.
    Citations: 6     Fields:    Translation:Humans
  30. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. PMID: 25140959.
    Citations: 60     Fields:    Translation:Humans
  31. Jamuar SS, Lai AH. Safety and efficacy of iron chelation therapy with deferiprone in patients with transfusion-dependent thalassemia. Ther Adv Hematol. 2012 Oct; 3(5):299-307. PMID: 23616917.
    Citations: 7     
  32. Liew WK, Lek N, Jamuar SS, Lim KW. Picture of the month. Primary hypothyroidism. Arch Pediatr Adolesc Med. 2012 Jun 01; 166(6):573-4. PMID: 22665032.
    Citations:    Fields:    Translation:Humans
  33. Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. PMID: 22771013.
    Citations: 3     Fields:    Translation:Humans
  34. Jamuar S, Lai A, Unger S, Nishimura G. Clinical and radiological findings in Pallister-Killian syndrome. Eur J Med Genet. 2012 Mar; 55(3):167-72. PMID: 22387057.
    Citations: 6     Fields:    Translation:HumansCells
  35. Jamuar SS, Lai AH, Tan AM, Chan MY, Tan ES, Ng IS. Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia. J Paediatr Child Health. 2011 Nov; 47(11):812-7. PMID: 21902752.
    Citations: 1     Fields:    Translation:Humans
  36. Fibach E, Tan ES, Jamuar S, Ng I, Amer J, Rachmilewitz EA. Amelioration of oxidative stress in red blood cells from patients with beta-thalassemia major and intermedia and E-beta-thalassemia following administration of a fermented papaya preparation. Phytother Res. 2010 Sep; 24(9):1334-8. PMID: 20127662.
    Citations: 4     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.