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Items: 1 to 50 of 442

1.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC.

Hum Genet. 2020 Mar 19. doi: 10.1007/s00439-020-02138-2. [Epub ahead of print]

PMID:
32193685
2.

Spectrally-selective measurements of reversible and irreversible transverse relaxation rates from single spin-echo PRESS acquisitions in muscle.

Mulkern RV, Nosrati R, Balasubramanian M.

NMR Biomed. 2020 Mar 13:e4290. doi: 10.1002/nbm.4290. [Epub ahead of print]

PMID:
32167612
3.

Assessment of Health Research Capacity in Western Sydney Local Health District (WSLHD): A Study on Medical, Nursing and Allied Health Professionals.

Lee SA, Byth K, Gifford JA, Balasubramanian M, Fozzard CA, Skapetis T, Flood VM.

J Multidiscip Healthc. 2020 Feb 11;13:153-163. doi: 10.2147/JMDH.S222987. eCollection 2020.

4.

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M.

Hum Mutat. 2020 Feb 25. doi: 10.1002/humu.24001. [Epub ahead of print]

PMID:
32097528
5.

Pick-ya actin - a method to purify actin isoforms with bespoke key post-translational modifications.

Hatano T, Sivashanmugam L, Suchenko A, Hussain H, Balasubramanian MK.

J Cell Sci. 2020 Jan 30;133(2). pii: jcs241406. doi: 10.1242/jcs.241406.

6.

Evaluation of materials for iodine and technetium immobilization through sorption and redox-driven processes.

Pearce CI, Cordova EA, Garcia WL, Saslow SA, Cantrell KJ, Morad JW, Qafoku O, Matyáš J, Plymale AE, Chatterjee S, Kang J, Colon FC, Levitskaia TG, Rigali MJ, Szecsody JE, Heald SM, Balasubramanian M, Wang S, Sun DT, Queen WL, Bontchev R, Moore RC, Freedman VL.

Sci Total Environ. 2020 May 10;716:136167. doi: 10.1016/j.scitotenv.2019.136167. Epub 2019 Dec 18.

PMID:
31955840
7.

An Unusual Initial Presentation of Diffuse Large B-Cell Lymphoma as Recurrent Syncope.

Kim K, Kaur H, Chan M, Balasubramanian M, Gupta S, Jorge VM.

Case Rep Hematol. 2019 Dec 26;2019:1082543. doi: 10.1155/2019/1082543. eCollection 2019.

8.

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Kanani F, Titheradge H, Cooper N, Elmslie F, Lees MM, Juusola J, Pisani L, McKenna C, Mignot C, Valence S, Keren B, Lachlan K; DDD Study, Balasubramanian M.

Am J Med Genet A. 2020 Apr;182(4):713-720. doi: 10.1002/ajmg.a.61483. Epub 2020 Jan 11.

PMID:
31926053
9.

Quantifying the hydration structure of sodium and potassium ions: taking additional steps on Jacob's Ladder.

Duignan TT, Schenter GK, Fulton JL, Huthwelker T, Balasubramanian M, Galib M, Baer MD, Wilhelm J, Hutter J, Del Ben M, Zhao XS, Mundy CJ.

Phys Chem Chem Phys. 2020 Jan 2. doi: 10.1039/c9cp06161d. [Epub ahead of print]

PMID:
31894785
10.

Revealing Grain-Boundary-Induced Degradation Mechanisms in Li-Rich Cathode Materials.

Sharifi-Asl S, Yurkiv V, Gutierrez A, Cheng M, Balasubramanian M, Mashayek F, Croy J, Shahbazian-Yassar R.

Nano Lett. 2020 Feb 12;20(2):1208-1217. doi: 10.1021/acs.nanolett.9b04620. Epub 2020 Jan 6.

PMID:
31869569
11.

Probing Cerium 4f States across the Volume Collapse Transition by X-ray Raman Scattering.

Chen B, Pärschke EM, Chen WC, Scoggins B, Li B, Balasubramanian M, Heald S, Zhang J, Deng H, Sereika R, Sorb Y, Yin X, Bi Y, Jin K, Wu Q, Chen CC, Ding Y, Mao HK.

J Phys Chem Lett. 2019 Dec 19;10(24):7890-7897. doi: 10.1021/acs.jpclett.9b02819. Epub 2019 Dec 9.

PMID:
31815485
12.

Pre-emptive multimodal analgesic regimen reduces post-operative epidural demand boluses in traumatic shaft of femur fracture - A randomised controlled trial.

Makkar JK, Jain K, Kuberan A, Balasubramanian M, Bhatia N, Singh PM.

Indian J Anaesth. 2019 Nov;63(11):895-899. doi: 10.4103/ija.IJA_363_19. Epub 2019 Nov 8.

13.

Differential Culturability of Mycobacterium tuberculosis in Culture-Negative Sputum of Patients With Pulmonary Tuberculosis and in a Simulated Model of Dormancy.

Dusthackeer A, Balasubramanian M, Shanmugam G, Priya S, Nirmal CR, Sam Ebenezer R, Balasubramanian A, Mondal RK, Thiruvenkadam K, Hemanth Kumar AK, Ramachandran G, Subbian S.

Front Microbiol. 2019 Oct 23;10:2381. doi: 10.3389/fmicb.2019.02381. eCollection 2019.

14.

Effect of General Anesthetics on Caspase-3 Levels in Patients With Aneurysmal Subarachnoid Hemorrhage: A Preliminary Study.

Balasubramanian M, Kuberan A, Rawat A, Dhandapani S, Panda N, Kumar A, Sahoo AK, Kumar M, Sharma T, Garcia PS, Bhagat H.

J Neurosurg Anesthesiol. 2019 Oct 9. doi: 10.1097/ANA.0000000000000648. [Epub ahead of print]

PMID:
31599811
15.

Phosphoregulation of tropomyosin is crucial for actin cable turnover and division site placement.

Palani S, Köster DV, Hatano T, Kamnev A, Kanamaru T, Brooker HR, Hernandez-Fernaud JR, Jones AME, Millar JBA, Mulvihill DP, Balasubramanian MK.

J Cell Biol. 2019 Nov 4;218(11):3548-3559. doi: 10.1083/jcb.201809089. Epub 2019 Oct 9.

16.

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.

Lam Z, Albaba S, Study D, Balasubramanian M.

Clin Dysmorphol. 2020 Jan;29(1):10-16. doi: 10.1097/MCD.0000000000000298.

PMID:
31577543
17.

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.

Balasubramanian M, Hobson E, Skae M, McCaughey J, Stephens DJ.

Mol Genet Genomic Med. 2019 Dec;7(12):e912. doi: 10.1002/mgg3.912. Epub 2019 Sep 30.

18.

Economic value of regulating ecosystem services: a comprehensive at the global level review.

Balasubramanian M.

Environ Monit Assess. 2019 Sep 6;191(10):616. doi: 10.1007/s10661-019-7758-8. Review.

PMID:
31493130
19.

Ambulatory cardiac bio-signals: From mirage to clinical reality through a decade of progress.

Periyaswamy T, Balasubramanian M.

Int J Med Inform. 2019 Oct;130:103928. doi: 10.1016/j.ijmedinf.2019.07.007. Epub 2019 Jul 15. Review.

PMID:
31434042
20.

A strife of interests: A qualitative study on the challenges facing oral health workforce policy and planning.

Balasubramanian M, Brennan DS, Short SD, Gallagher JE.

Health Policy. 2019 Nov;123(11):1068-1075. doi: 10.1016/j.healthpol.2019.07.010. Epub 2019 Jul 23.

PMID:
31362833
21.

Cohesin complex-associated holoprosencephaly.

Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M.

Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210.

PMID:
31334757
22.
23.

Phenylhydrazine hydrochloride induced dosedependent embryo cytotoxicity in zebrafish.

Rajagopal RE, Balasubramanian M, Kalyanaraman S.

Bioinformation. 2019 Apr 15;15(4):255-260. doi: 10.6026/97320630015255. eCollection 2019.

24.

Expanding the Zebrafish Genetic Code through Site-Specific Introduction of Azido-lysine, Bicyclononyne-lysine, and Diazirine-lysine.

Syed J, Palani S, Clarke ST, Asad Z, Bottrill AR, Jones AME, Sampath K, Balasubramanian MK.

Int J Mol Sci. 2019 May 26;20(10). pii: E2577. doi: 10.3390/ijms20102577.

25.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.

PMID:
31021519
26.

Cost Comparison of an On-Premise IT Solution with a Cloud-Based Solution for Electronic Health Records in a Dental School Clinic.

Johnson L, Callaghan C, Balasubramanian M, Haq H, Spallek H.

J Dent Educ. 2019 Aug;83(8):895-903. doi: 10.21815/JDE.019.089. Epub 2019 Apr 22.

PMID:
31010892
27.

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.

Kanani F, Mordekar S, Parker MJ, Balasubramanian M; DDD Study.

Clin Dysmorphol. 2019 Jul;28(3):160-163. doi: 10.1097/MCD.0000000000000280. No abstract available.

PMID:
30998607
28.

Castleman Disease Presenting as a Supraclavicular Neck Mass in a Child.

Cohn JE, Johnson PG, Balasubramanian M, Terk AR.

Ear Nose Throat J. 2020 Feb;99(2):99-100. doi: 10.1177/0145561318824475. Epub 2019 Jan 31. No abstract available.

PMID:
30991840
29.

Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction.

Cheffings TH, Burroughs NJ, Balasubramanian MK.

Mol Biol Cell. 2019 Apr 1;30(8):933-941. doi: 10.1091/mbc.E18-08-0511. Epub 2019 Feb 13.

30.

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature.

Balasubramanian M, Verschueren A, Kleevens S, Luyckx I, Perik M, Schirwani S, Mortier G, Morisaki H, Rodrigus I, Van Laer L, Verstraeten A, Loeys B.

Bone. 2019 Apr;121:191-195. doi: 10.1016/j.bone.2019.01.022. Epub 2019 Jan 23.

PMID:
30684648
31.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Radley JA, O'Sullivan RBG, Turton SE, Cox H, Vogt J, Morton J, Jones E, Smithson S, Lachlan K, Rankin J, Clayton-Smith J, Willoughby J, Elmslie FF, Sansbury FH, Cooper N; Deciphering Developmental Disorders (DDD) Study, Balasubramanian M.

Clin Genet. 2019 Apr;95(4):496-506. doi: 10.1111/cge.13507.

32.

Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype.

Kanani F, Parker MJ, Burren CP, Rankin J, Balasubramanian M.

Am J Med Genet A. 2019 Jan;179(1):139-140. doi: 10.1002/ajmg.a.60680. Epub 2018 Dec 17. No abstract available.

PMID:
30556288
33.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

34.

Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Schirwani S, McConnell V, Willoughby J; DDD Study, Balasubramanian M.

Gene. 2019 Feb 15;685:50-54. doi: 10.1016/j.gene.2018.10.067. Epub 2018 Oct 25. Review.

PMID:
30393191
35.

Climate change, famine, and low-income communities challenge Sustainable Development Goals.

Balasubramanian M.

Lancet Planet Health. 2018 Oct;2(10):e421-e422. doi: 10.1016/S2542-5196(18)30212-2. No abstract available.

36.

Opposing kinesin complexes queue at plus tips to ensure microtubule catastrophe at cell ends.

Meadows JC, Messin LJ, Kamnev A, Lancaster TC, Balasubramanian MK, Cross RA, Millar JB.

EMBO Rep. 2018 Nov;19(11). pii: e46196. doi: 10.15252/embr.201846196. Epub 2018 Sep 11.

37.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M.

Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27.

38.

Dental professionals for a new century: Transforming dentistry through interprofessional education and collaborative practice.

Balasubramanian M, Short SD, Gallagher JE.

Indian J Dent Res. 2018 Jul-Aug;29(4):401-403. doi: 10.4103/ijdr.IJDR_495_18. No abstract available.

39.

Synchronous Primary Central Nervous System and Pulmonary Lymphoma in a 7-Year-Old Female with Unspecified T-Cell Immunodeficiency.

Ghali MGZ, Samkari A, Hou JS, Balasubramanian M, Besmer S, Keisling M, Narayan P.

Pediatr Neurosurg. 2018;53(5):311-316. doi: 10.1159/000490728. Epub 2018 Aug 15.

PMID:
30110687
40.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
41.

Trends in Bone Marrow Sampling and Core Biopsy Specimen Adequacy in the United States and Canada: A Multicenter Study.

Merzianu M, Groman A, Hutson A, Cotta C, Brynes RK, Orazi A, Reddy V, Teruya-Feldstein J, Amre R, Balasubramanian M, Brandao G, Cherian S, Courville E, Czuchlewski D, Fan G, Grier D, Hoehn D, Inamdar KV, Juskevicius R, Kaur P, Lazarchick J, Lewis MR, Miles RR, Myers JB, Nasr MR, Qureishi HN, Olteanu H, Robu VG, Salaru G, Vajpayee N, Vos J, Zhang L, Zhang S, Aye L, Brega E, Coad JE, Grantham J, Ivelja S, McKenna R, Sultan K, Wilding G, Hutchison R, Peterson L, Cheney RT.

Am J Clin Pathol. 2018 Oct 1;150(5):393-405. doi: 10.1093/ajcp/aqy066.

42.

Moving from advocacy to activism? The fourth WHO global forum on human resources for health and implications for dentistry.

Balasubramanian M, Davda L, Short SD, Gallagher JE.

Br Dent J. 2018 Jul 27;225(2):119-122. doi: 10.1038/sj.bdj.2018.532.

PMID:
30050220
43.

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel.

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT.

Mol Genet Metab Rep. 2018 Jun 8;16:12. doi: 10.1016/j.ymgmr.2018.06.002. eCollection 2018 Sep. No abstract available.

44.

Autism and heritable bone fragility: A true association?

Balasubramanian M, Jones R, Milne E, Marshall C, Arundel P, Smith K, Bishop NJ.

Bone Rep. 2018 Apr 18;8:156-162. doi: 10.1016/j.bonr.2018.04.002. eCollection 2018 Jun.

45.

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Kanani F, Study D, Balasubramanian M.

Clin Dysmorphol. 2018 Oct;27(4):113-115. doi: 10.1097/MCD.0000000000000232. Review.

46.

MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Balasubramanian M, Johnson DS; DDD Study.

Eur J Med Genet. 2019 Feb;62(2):109-114. doi: 10.1016/j.ejmg.2018.06.011. Epub 2018 Jun 14. Review.

47.

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt.

Balasubramanian M, Jenkins TM, Kirk RJ, Nesbitt IM, Olpin SE, Hill M, Gillett GT.

Mol Genet Metab Rep. 2018 Mar 6;15:69-70. doi: 10.1016/j.ymgmr.2018.02.008. eCollection 2018 Jun.

48.

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.

Balasubramanian M, Fratzl-Zelman N, O'Sullivan R, Bull M, Fa Peel N, Pollitt RC, Jones R, Milne E, Smith K, Roschger P, Klaushofer K, Bishop NJ.

Am J Med Genet A. 2018 Jul;176(7):1578-1586. doi: 10.1002/ajmg.a.38830. Epub 2018 May 7.

49.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A; DDD Study, Balasubramanian M.

Am J Med Genet A. 2018 May;176(5):1049-1054. doi: 10.1002/ajmg.a.38656.

PMID:
29681108
50.

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Schirwani S, Wakeling E, Smith K; DDD Study, Balasubramanian M.

Am J Med Genet A. 2018 May;176(5):1238-1244. doi: 10.1002/ajmg.a.38683. Review.

PMID:
29681091

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