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ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel.

Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.


Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.


Recent progress in enzymatic protein labelling techniques and their applications.

Zhang Y, Park KY, Suazo KF, Distefano MD.

Chem Soc Rev. 2018 Sep 27. doi: 10.1039/c8cs00537k. [Epub ahead of print] Review.


Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).

Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.


Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN.

J Mol Diagn. 2018 Aug 8. pii: S1525-1578(18)30099-0. doi: 10.1016/j.jmoldx.2018.06.005. [Epub ahead of print]


Metabolic Labeling of Prenylated Proteins Using Alkyne-Modified Isoprenoid Analogues.

Suazo KF, Hurben AK, Liu K, Xu F, Thao P, Sudheer C, Li L, Distefano MD.

Curr Protoc Chem Biol. 2018 Sep;10(3):e46. doi: 10.1002/cpch.46. Epub 2018 Jul 30.


Pushing Hard: The Mandate to Improve Care of Pediatric Cardiopulmonary Arrest.

Neubrand T, Cabrera N, Coss S, Watkins A, DiStefano M.

Acad Emerg Med. 2018 Jul 19. doi: 10.1111/acem.13521. [Epub ahead of print] No abstract available.


Characterizing "Civil Unrest" as a Public Health Determinant.

DiStefano MJ.

Am J Public Health. 2018 Jul;108(7):e20. doi: 10.2105/AJPH.2018.304482. No abstract available.


Site-specific cross-linking of proteins to DNA via a new bioorthogonal approach employing oxime ligation.

Pujari SS, Zhang Y, Ji S, Distefano MD, Tretyakova NY.

Chem Commun (Camb). 2018 Jun 14;54(49):6296-6299. doi: 10.1039/c8cc01300d.


ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K.

Hum Mutat. 2018 Aug;39(8):1051-1060. doi: 10.1002/humu.23555. Epub 2018 Jun 21.


Isoprenoids and protein prenylation: implications in the pathogenesis and therapeutic intervention of Alzheimer's disease.

Jeong A, Suazo KF, Wood WG, Distefano MD, Li L.

Crit Rev Biochem Mol Biol. 2018 Jun;53(3):279-310. doi: 10.1080/10409238.2018.1458070.


Incidence of Hepatocellular Carcinoma in Patients With HCV-Associated Cirrhosis Treated With Direct-Acting Antiviral Agents.

Calvaruso V, Cabibbo G, Cacciola I, Petta S, Madonia S, Bellia A, Tinè F, Distefano M, Licata A, Giannitrapani L, Prestileo T, Mazzola G, Di Rosolini MA, Larocca L, Bertino G, Digiacomo A, Benanti F, Guarneri L, Averna A, Iacobello C, Magro A, Scalisi I, Cartabellotta F, Savalli F, Barbara M, Davì A, Russello M, Scifo G, Squadrito G, Cammà C, Raimondo G, Craxì A, Di Marco V; Rete Sicilia Selezione Terapia–HCV (RESIST-HCV).

Gastroenterology. 2018 Aug;155(2):411-421.e4. doi: 10.1053/j.gastro.2018.04.008. Epub 2018 Apr 12.


A mechanistic pan-cancer pathway model informed by multi-omics data interprets stochastic cell fate responses to drugs and mitogens.

Bouhaddou M, Barrette AM, Stern AD, Koch RJ, DiStefano MS, Riesel EA, Santos LC, Tan AL, Mertz AE, Birtwistle MR.

PLoS Comput Biol. 2018 Mar 26;14(3):e1005985. doi: 10.1371/journal.pcbi.1005985. eCollection 2018 Mar. Erratum in: PLoS Comput Biol. 2018 Jul 9;14(7):e1006189.


Photo-immobilized EGF chemical gradients differentially impact breast cancer cell invasion and drug response in defined 3D hydrogels.

Fisher SA, Tam RY, Fokina A, Mahmoodi MM, Distefano MD, Shoichet MS.

Biomaterials. 2018 Sep;178:751-766. doi: 10.1016/j.biomaterials.2018.01.032. Epub 2018 Feb 13.


Analysis of copy number loss of the ErbB4 receptor tyrosine kinase in glioblastoma.

Jones DC, Scanteianu A, DiStefano M, Bouhaddou M, Birtwistle MR.

PLoS One. 2018 Jan 17;13(1):e0190664. doi: 10.1371/journal.pone.0190664. eCollection 2018.


Efficient farnesylation of an extended C-terminal C(x)3X sequence motif expands the scope of the prenylated proteome.

Blanden MJ, Suazo KF, Hildebrandt ER, Hardgrove DS, Patel M, Saunders WP, Distefano MD, Schmidt WK, Hougland JL.

J Biol Chem. 2018 Feb 23;293(8):2770-2785. doi: 10.1074/jbc.M117.805770. Epub 2017 Dec 27.


a-Factor Analogues Containing Alkyne- and Azide-Functionalized Isoprenoids Are Efficiently Enzymatically Processed and Retain Wild-Type Bioactivity.

Diaz-Rodriguez V, Hsu ET, Ganusova E, Werst ER, Becker JM, Hrycyna CA, Distefano MD.

Bioconjug Chem. 2018 Feb 21;29(2):316-323. doi: 10.1021/acs.bioconjchem.7b00648. Epub 2017 Dec 20.


Aortic dissection in the thrombolysis era: Rare but potentially fatal cause of stroke.

Pilato F, Iodice F, Distefano M, Profice P, Coli A, Calandrelli R.

Neurol India. 2017 Nov-Dec;65(6):1395-1399. doi: 10.4103/0028-3886.217931. No abstract available.


Optimizing treatment in recurrent epithelial ovarian cancer.

Corrado G, Salutari V, Palluzzi E, Distefano MG, Scambia G, Ferrandina G.

Expert Rev Anticancer Ther. 2017 Dec;17(12):1147-1158. doi: 10.1080/14737140.2017.1398088. Epub 2017 Nov 6. Review.


Clinical and ultrasound features of non-gestational ovarian choriocarcinoma.

Mascilini F, Moro F, Di Grazia FM, Leombroni M, Distefano MG, Fanfani F, Scambia G, Testa AC.

Ultrasound Obstet Gynecol. 2018 Jul;52(1):121-123. doi: 10.1002/uog.18943. No abstract available.


Could lymphadenectomy be avoided in locally advanced cervical cancer patients administered preoperative chemoradiation? A large-scale retrospective study.

Ferrandina G, Distefano M, Mascilini F, Gallotta V, Chiantera V, Cosentino F, Costantini B, Ercoli A, Pedone Anchora L, Fanfani F, Margariti AP, Valentini V, Scambia G.

Eur J Surg Oncol. 2017 Dec;43(12):2270-2276. doi: 10.1016/j.ejso.2017.09.013. Epub 2017 Sep 23.


Is early recurrence of hepatocellular carcinoma in HCV cirrhotic patients affected by treatment with direct-acting antivirals? A prospective multicentre study.

Cabibbo G, Petta S, Calvaruso V, Cacciola I, Cannavò MR, Madonia S, Distefano M, Larocca L, Prestileo T, Tinè F, Bertino G, Giannitrapani L, Benanti F, Licata A, Scalisi I, Mazzola G, Cartabellotta F, Alessi N, Barbàra M, Russello M, Scifo G, Squadrito G, Raimondo G, Craxì A, Di Marco V, Cammà C; Rete Sicilia Selezione Terapia - HCV (RESIST-HCV).

Aliment Pharmacol Ther. 2017 Oct;46(7):688-695. doi: 10.1111/apt.14256. Epub 2017 Aug 9.


Recurrent miller fisher: a new case report and a literature review.

Barbato F, Di Paolantonio A, Distefano M, Mastrorosa A, Sabatelli M, Servidei S, Luigetti M.

Clin Ter. 2017 May-Jun;168(3):e208-e213. doi: 10.7417/T.2017.2008. Review.


Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity.

Roth Flach RJ, DiStefano MT, Danai LV, Senol-Cosar O, Yawe JC, Kelly M, Garcia Menendez L, Czech MP.

Am J Physiol Endocrinol Metab. 2017 Sep 1;313(3):E303-E313. doi: 10.1152/ajpendo.00037.2017. Epub 2017 Jun 13.


Real-World Management of Trabectedin/Pegylated Liposomal Doxorubicin in Platinum-Sensitive Recurrent Ovarian Cancer Patients: A National Survey.

Ferrandina G, Amadio G, Paris I, Distefano M, Palluzzi E, de Vincenzo R, Ricci C, Scambia G.

Int J Gynecol Cancer. 2017 Jul;27(6):1141-1148. doi: 10.1097/IGC.0000000000001058.


Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS.

Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.


Fluorescence and NMR spectroscopy together with molecular simulations reveal amphiphilic characteristics of a Burkholderia biofilm exopolysaccharide.

Kuttel MM, Cescutti P, Distefano M, Rizzo R.

J Biol Chem. 2017 Jun 30;292(26):11034-11042. doi: 10.1074/jbc.M117.785048. Epub 2017 May 3.


The Caregiver Perspective on Unscheduled 72-Hour Return Visits to Pediatric Acute Care Sites: A Focus on Discharge Processes.

Navanandan N, Schmidt SK, Cabrera N, DiStefano MC, Mistry RD.

Acad Pediatr. 2017 Sep - Oct;17(7):755-761. doi: 10.1016/j.acap.2017.02.003. Epub 2017 Feb 12.


a-Factor: a chemical biology tool for the study of protein prenylation.

Diaz-Rodriguez V, Distefano MD.

Curr Top Pept Protein Res. 2017;18:133-151.


Wearable Biometric Technologies and Public Health.

DiStefano MJ.

Am J Bioeth. 2017 Jan;17(1):79-81. No abstract available.


Limited Abdominal Sonography for Evaluation of Children With Right Lower Quadrant Pain.

Munden MM, Wai S, DiStefano MC, Zhang W.

J Ultrasound Med. 2017 Jan;36(1):183-186. doi: 10.7863/ultra.16.01102. Epub 2016 Nov 30.


Global proteomic analysis of prenylated proteins in Plasmodium falciparum using an alkyne-modified isoprenoid analogue.

Suazo KF, Schaber C, Palsuledesai CC, Odom John AR, Distefano MD.

Sci Rep. 2016 Dec 7;6:38615. doi: 10.1038/srep38615.


Drug response consistency in CCLE and CGP.

Bouhaddou M, DiStefano MS, Riesel EA, Carrasco E, Holzapfel HY, Jones DC, Smith GR, Stern AD, Somani SS, Thompson TV, Birtwistle MR.

Nature. 2016 Nov 30;540(7631):E9-E10. doi: 10.1038/nature20580. No abstract available.


Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance.

DiStefano MT, Roth Flach RJ, Senol-Cosar O, Danai LV, Virbasius JV, Nicoloro SM, Straubhaar J, Dagdeviren S, Wabitsch M, Gupta OT, Kim JK, Czech MP.

Mol Metab. 2016 Sep 28;5(12):1149-1161. doi: 10.1016/j.molmet.2016.09.009. eCollection 2016 Dec.


Metabolic Labeling with an Alkyne-modified Isoprenoid Analog Facilitates Imaging and Quantification of the Prenylome in Cells.

Palsuledesai CC, Ochocki JD, Kuhns MM, Wang YC, Warmka JK, Chernick DS, Wattenberg EV, Li L, Arriaga EA, Distefano MD.

ACS Chem Biol. 2016 Oct 21;11(10):2820-2828. Epub 2016 Aug 31.


Bypass of DNA-Protein Cross-links Conjugated to the 7-Deazaguanine Position of DNA by Translesion Synthesis Polymerases.

Wickramaratne S, Ji S, Mukherjee S, Su Y, Pence MG, Lior-Hoffmann L, Fu I, Broyde S, Guengerich FP, Distefano M, Schärer OD, Sham YY, Tretyakova N.

J Biol Chem. 2016 Nov 4;291(45):23589-23603. Epub 2016 Sep 12.


6-Bromo-7-hydroxy-3-methylcoumarin (mBhc) is an efficient multi-photon labile protecting group for thiol caging and three-dimensional chemical patterning.

Mahmoodi MM, Fisher SA, Tam RY, Goff PC, Anderson RB, Wissinger JE, Blank DA, Shoichet MS, Distefano MD.

Org Biomol Chem. 2016 Sep 21;14(35):8289-300. doi: 10.1039/c6ob01045h. Epub 2016 Aug 16.


mHealth for Tuberculosis Treatment Adherence: A Framework to Guide Ethical Planning, Implementation, and Evaluation.

DiStefano MJ, Schmidt H.

Glob Health Sci Pract. 2016 Jun 27;4(2):211-21. doi: 10.9745/GHSP-D-16-00018. Print 2016 Jun 20. No abstract available.


Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia.

Roth Flach RJ, Danai LV, DiStefano MT, Kelly M, Menendez LG, Jurczyk A, Sharma RB, Jung DY, Kim JH, Kim JK, Bortell R, Alonso LC, Czech MP.

J Biol Chem. 2016 Jul 29;291(31):16221-30. doi: 10.1074/jbc.M116.718932. Epub 2016 May 20.


Rab7b at the intersection of intracellular trafficking and cell migration.

Distefano MB, Kjos I, Bakke O, Progida C.

Commun Integr Biol. 2015 Aug 27;8(6):e1023492. doi: 10.1080/19420889.2015.1023492. eCollection 2015 Nov-Dec.


Nitrodibenzofuran: A One- and Two-Photon Sensitive Protecting Group That Is Superior to Brominated Hydroxycoumarin for Thiol Caging in Peptides.

Mahmoodi MM, Abate-Pella D, Pundsack TJ, Palsuledesai CC, Goff PC, Blank DA, Distefano MD.

J Am Chem Soc. 2016 May 11;138(18):5848-59. doi: 10.1021/jacs.5b11759. Epub 2016 May 2.


Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

Messina S, Vita GL, Sframeli M, Mondello S, Mazzone E, D'Amico A, Berardinelli A, La Rosa M, Bruno C, Distefano MG, Baranello G, Barcellona C, Scutifero M, Marcato S, Palmieri A, Politano L, Morandi L, Mongini T, Pegoraro E, D'Angelo MG, Pane M, Rodolico C, Minetti C, Bertini E, Vita G, Mercuri E.

Neuromuscul Disord. 2016 Mar;26(3):189-96. doi: 10.1016/j.nmd.2016.01.003. Epub 2016 Feb 2.


Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion.

Senol-Cosar O, Flach RJ, DiStefano M, Chawla A, Nicoloro S, Straubhaar J, Hardy OT, Noh HL, Kim JK, Wabitsch M, Scherer PE, Czech MP.

Nat Commun. 2016 Feb 16;7:10686. doi: 10.1038/ncomms10686.


Analogs of farnesyl diphosphate alter CaaX substrate specificity and reactions rates of protein farnesyltransferase.

Jennings BC, Danowitz AM, Wang YC, Gibbs RA, Distefano MD, Fierke CA.

Bioorg Med Chem Lett. 2016 Feb 15;26(4):1333-6. doi: 10.1016/j.bmcl.2015.12.079. Epub 2015 Dec 22.


Synthetic isoprenoid analogues for the study of prenylated proteins: Fluorescent imaging and proteomic applications.

Wang YC, Distefano MD.

Bioorg Chem. 2016 Feb;64:59-65. doi: 10.1016/j.bioorg.2015.12.003. Epub 2015 Dec 10. Review.


8-Hydroxyquinoline-based inhibitors of the Rce1 protease disrupt Ras membrane localization in human cells.

Mohammed I, Hampton SE, Ashall L, Hildebrandt ER, Kutlik RA, Manandhar SP, Floyd BJ, Smith HE, Dozier JK, Distefano MD, Schmidt WK, Dore TM.

Bioorg Med Chem. 2016 Jan 15;24(2):160-78. doi: 10.1016/j.bmc.2015.11.043. Epub 2015 Nov 30.


Simultaneous Site-Specific Dual Protein Labeling Using Protein Prenyltransferases.

Zhang Y, Blanden MJ, Sudheer Ch, Gangopadhyay SA, Rashidian M, Hougland JL, Distefano MD.

Bioconjug Chem. 2015 Dec 16;26(12):2542-53. doi: 10.1021/acs.bioconjchem.5b00553. Epub 2015 Dec 4.


Site-Specific PEGylation of Therapeutic Proteins.

Dozier JK, Distefano MD.

Int J Mol Sci. 2015 Oct 28;16(10):25831-64. doi: 10.3390/ijms161025831. Review.


Synthesis of Peptides Containing C-Terminal Esters Using Trityl Side-Chain Anchoring: Applications to the Synthesis of C-Terminal Ester Analogs of the Saccharomyces cerevisiae Mating Pheromone a-Factor.

Diaz-Rodriguez V, Ganusova E, Rappe TM, Becker JM, Distefano MD.

J Org Chem. 2015 Nov 20;80(22):11266-74. doi: 10.1021/acs.joc.5b01376. Epub 2015 Aug 24.


The frequency of naive and early-activated hapten-specific B cell subsets dictates the efficacy of a therapeutic vaccine against prescription opioid abuse.

Laudenbach M, Baruffaldi F, Vervacke JS, Distefano MD, Titcombe PJ, Mueller DL, Tubo NJ, Griffith TS, Pravetoni M.

J Immunol. 2015 Jun 15;194(12):5926-36. doi: 10.4049/jimmunol.1500385. Epub 2015 May 13.

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