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Items: 1 to 50 of 121

1.

Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors: Clinical Application of Whole-Genome Sequencing for Reporting Targetable Variants in Cancer.

Wrzeszczynski KO, Felice V, Abhyankar A, Kozon L, Geiger H, Manaa D, London F, Robinson D, Fang X, Lin D, Lamendola-Essel MF, Khaira D, Dikoglu E, Emde AK, Robine N, Shah M, Arora K, Basturk O, Bhanot U, Kentsis A, Mansukhani MM, Bhagat G, Jobanputra V.

J Mol Diagn. 2018 Aug 21. pii: S1525-1578(17)30621-9. doi: 10.1016/j.jmoldx.2018.06.007. [Epub ahead of print]

2.

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Requena D, Maffucci P, Bigio B, Shang L, Abhyankar A, Boisson B, Stenson PD, Cooper DN, Cunningham-Rundles C, Casanova JL, Abel L, Itan Y.

Front Immunol. 2018 Jun 27;9:1340. doi: 10.3389/fimmu.2018.01340. eCollection 2018.

3.

New insights towards strikingly improved room temperature ethanol sensing properties of p-type Ce-doped SnO2 sensors.

Kumar M, Bhatt V, Abhyankar AC, Kim J, Kumar A, Patil SH, Yun JH.

Sci Rep. 2018 May 24;8(1):8079. doi: 10.1038/s41598-018-26504-3.

4.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

PMID:
29566793
5.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Abhyankar A, Lamendola-Essel M, Brennan K, Giordano JL, Esteves C, Felice V, Wapner R, Jobanputra V.

Clin Case Rep. 2017 Dec 15;6(1):200-205. doi: 10.1002/ccr3.1284. eCollection 2018 Jan.

6.

Response to: Oral lithium as an adjunctive therapy during radioiodine treatment for hyperthyroidism.

Basu S, Abhyankar A.

Nucl Med Commun. 2017 Dec;38(12):1133-1134. doi: 10.1097/MNM.0000000000000763. No abstract available.

PMID:
29140921
7.

Ferromagnetic resonance of NiCoFe2O4 nanoparticles and microwave absorption properties of flexible NiCoFe2O4-carbon black/poly(vinyl alcohol) composites.

Datt G, Kotabage C, Abhyankar AC.

Phys Chem Chem Phys. 2017 Aug 9;19(31):20699-20712. doi: 10.1039/c7cp03953k.

PMID:
28737792
8.
9.

Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJB, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL, Puel A.

Cell. 2017 Feb 23;168(5):789-800.e10. doi: 10.1016/j.cell.2017.01.039.

10.

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.

Freudenberg-Hua Y, Li W, Abhyankar A, Vacic V, Cortes V, Ben-Avraham D, Koppel J, Greenwald B, Germer S; T2D-GENES Consortium, Darnell RB, Barzilai N, Freudenberg J, Atzmon G, Davies P.

Hum Mol Genet. 2016 Jul 15;25(14):3096-3105. Epub 2016 Jun 3.

11.

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium, Alcais A, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8. doi: 10.1073/pnas.1606460113. Epub 2016 May 31.

12.

Unusual solitary splenic metastasis from pyriform fossa carcinoma detected by FDG-PET.

Abhyankar A, Desai SB, Asopa RV, Basu S.

Indian J Cancer. 2015 Oct-Dec;52(4):524-5. doi: 10.4103/0019-509X.178396. No abstract available.

13.

Clinical outcomes in 995 unselected real-world patients treated with an ultrathin biodegradable polymer-coated sirolimus-eluting stent: 12-month results from the FLEX Registry.

Lemos PA, Chandwani P, Saxena S, Ramachandran PK, Abhyankar A, Campos CM, Marchini JF, Galon MZ, Verma P, Sandhu MS, Parikh N, Bhupali A, Jain S, Prajapati J.

BMJ Open. 2016 Feb 17;6(2):e010028. doi: 10.1136/bmjopen-2015-010028.

14.

Observation of magnetic anomalies in one-step solvothermally synthesized nickel-cobalt ferrite nanoparticles.

Datt G, Sen Bishwas M, Manivel Raja M, Abhyankar AC.

Nanoscale. 2016 Mar 7;8(9):5200-13. doi: 10.1039/c5nr06791j.

PMID:
26880070
15.

Comparison of Clinical Outcomes Following Single versus Multivessel Percutaneous Coronary Intervention Using Biodegradable Polymer Coated Sirolimus-Eluting Stent in an All-comers Patient Population.

Chandwani P, Verma P, Saxena S, Ramachandran PK, Abhyankar A, Sandhu MS, Parikh N, Bhupali A, Jain S, Prajapati J.

Cardiovasc Hematol Agents Med Chem. 2016;14(1):39-48.

PMID:
26585397
16.

Paclitaxel-Eluting versus Everolimus-Eluting Coronary Stents in Diabetes.

Kaul U, Bangalore S, Seth A, Arambam P, Abhaichand RK, Patel TM, Banker D, Abhyankar A, Mullasari AS, Shah S, Jain R, Kumar PR, Bahuleyan CG; TUXEDO–India Investigators.

N Engl J Med. 2015 Oct 29;373(18):1709-19. doi: 10.1056/NEJMoa1510188. Epub 2015 Oct 14. Erratum in: N Engl J Med. 2016 Jul 28;375(4):398. Abhaychand, Rajpal K [Corrected to Abhaichand, Rajpal K].

17.
19.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, Manis JP.

J Allergy Clin Immunol. 2016 Feb;137(2):635-638.e1. doi: 10.1016/j.jaci.2015.06.049. Epub 2015 Sep 11. No abstract available.

20.

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, Molina H, Sanborn EM, Zierhut H, Cornes BK, Abhyankar A, Sougnez C, Gabriel SB, Auerbach AD, Kowalczykowski SC, Smogorzewska A.

Mol Cell. 2015 Aug 6;59(3):478-90. doi: 10.1016/j.molcel.2015.07.009.

21.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A.

Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25.

22.

Iron Replacement in Patients with Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.

Abhyankar A, Moss AC.

Inflamm Bowel Dis. 2015 Aug;21(8):1976-81. doi: 10.1097/MIB.0000000000000386. Review.

23.

Influence of texture coefficient on surface morphology and sensing properties of W-doped nanocrystalline tin oxide thin films.

Kumar M, Kumar A, Abhyankar AC.

ACS Appl Mater Interfaces. 2015 Feb 18;7(6):3571-80. doi: 10.1021/am507397z. Epub 2015 Feb 3.

PMID:
25603393
24.

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P.

Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15.

25.
27.

Comparative evaluation of 24-hour thyroid 131I uptake between γ camera-based method using medium-energy collimator and standard uptake probe-based method.

Menon BK, Rao RD, Abhyankar A, Rajan MG, Basu S.

J Nucl Med Technol. 2014 Sep;42(3):194-7. doi: 10.2967/jnmt.114.139162. Epub 2014 Jun 26.

28.

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance.

Itan Y, Mazel M, Mazel B, Abhyankar A, Nitschke P, Quintana-Murci L, Boisson-Dupuis S, Boisson B, Abel L, Zhang SY, Casanova JL.

BMC Genomics. 2014 Apr 3;15:256. doi: 10.1186/1471-2164-15-256.

29.

Examining recombinant human TSH primed ¹³¹I therapy protocol in patients with metastatic differentiated thyroid carcinoma: comparison with the traditional thyroid hormone withdrawal protocol.

Rani D, Kaisar S, Awasare S, Kamaldeep, Abhyankar A, Basu S.

Eur J Nucl Med Mol Imaging. 2014 Sep;41(9):1767-80. doi: 10.1007/s00259-014-2737-3. Epub 2014 Apr 1.

PMID:
24687139
30.

Immunosuppressive therapy in immune-mediated liver disease in the non-transplanted patient.

Abhyankar A, Tapper E, Bonder A.

Pharmaceuticals (Basel). 2013 Dec 30;7(1):18-28. doi: 10.3390/ph7010018.

32.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.

Hum Mutat. 2014 Jan;35(1):137-46.

35.

Commentary: impact of disease activity at conception on disease activity during pregnancy in patients with inflammatory bowel disease--authors' reply.

Abhyankar A, Ham M, Moss AC.

Aliment Pharmacol Ther. 2013 Oct;38(7):843. doi: 10.1111/apt.12457. No abstract available.

36.

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.

Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL.

J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29.

37.

Meta-analysis: the impact of disease activity at conception on disease activity during pregnancy in patients with inflammatory bowel disease.

Abhyankar A, Ham M, Moss AC.

Aliment Pharmacol Ther. 2013 Sep;38(5):460-6. doi: 10.1111/apt.12417. Epub 2013 Jul 15.

38.

Abdominal cystic lymphangioma mimicking appendicitis.

Wake S, Abhyankar A, Hutton K.

European J Pediatr Surg Rep. 2013 Jun;1(1):32-4. doi: 10.1055/s-0033-1337114. Epub 2013 Mar 20.

39.

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L.

J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24.

41.

A case of type I variant Kounis syndrome with Samter-Beer triad.

Prajapati JS, Virpariya KM, Thakkar AS, Abhyankar AD.

World J Cardiol. 2013 Apr 26;5(4):112-4. doi: 10.4330/wjc.v5.i4.112.

42.

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL.

Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.

43.

The human gene connectome as a map of short cuts for morbid allele discovery.

Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18.

44.

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.

PLoS One. 2013;8(3):e58286. doi: 10.1371/journal.pone.0058286. Epub 2013 Mar 5.

45.

Letter in response to the recently published review: hyponatremia in cirrhosis and end-stage liver disease--treatment with the vasopressin v2-receptor antagonist tolvaptan.

Abhyankar A, Robson SC, Tapper EB, Bonder A.

Dig Dis Sci. 2013 Mar;58(3):889-90. doi: 10.1007/s10620-013-2573-5. Epub 2013 Jan 31. No abstract available.

PMID:
23371016
47.

In vivo assessment of stent recoil of biodegradable polymer-coated cobalt-chromium sirolimus-eluting coronary stent system.

Abhyankar AD, Thakkar AS.

Indian Heart J. 2012 Nov-Dec;64(6):541-6. doi: 10.1016/j.ihj.2012.07.005. Epub 2012 Jul 27.

48.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

49.

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C.

Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28.

50.

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.

Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD.

Nature. 2012 Nov 29;491(7426):769-73. doi: 10.1038/nature11583. Epub 2012 Oct 28.

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