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Items: 16


A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K.

Pediatr Dermatol. 2018 Mar;35(2):188-197. doi: 10.1111/pde.13392. Epub 2018 Jan 15. Erratum in: Pediatr Dermatol. 2018 Sep;35(5):732-735.


Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results.

Myers MF, Zhang X, McLaughlin B, Kissell D, Perry CL, Veerkamp M, Zhang K, Holm IA, Prows CA.

Pharmacogenomics. 2017 Aug;18(13):1199-1213. doi: 10.2217/pgs-2017-0091. Epub 2017 Jul 26.


Evaluating Student Self-Assessment through Video-Recorded Patient Simulations.

Sanderson TR, Kearney RC, Kissell D, Salisbury J.

J Dent Hyg. 2016 Aug;90(4):257-62.


Genotype-Directed Dosing Leads to Optimized Voriconazole Levels in Pediatric Patients Receiving Hematopoietic Stem Cell Transplantation.

Teusink A, Vinks A, Zhang K, Davies S, Fukuda T, Lane A, Nortman S, Kissell D, Dell S, Filipovich A, Mehta P.

Biol Blood Marrow Transplant. 2016 Mar;22(3):482-6. doi: 10.1016/j.bbmt.2015.11.011. Epub 2015 Nov 23.


Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.

Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, Zhang K, Davis K, Jentzen JM, Napolitano L, Siddiqui J, Smith LB, Harms PW, Grom AA, Cron RQ.

J Infect Dis. 2016 Apr 1;213(7):1180-8. doi: 10.1093/infdis/jiv550. Epub 2015 Nov 23.


AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB.

Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663.


Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis.

Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH.

Blood. 2014 Aug 21;124(8):1331-4. doi: 10.1182/blood-2014-05-573105. Epub 2014 Jun 10.


The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K.

Pediatr Blood Cancer. 2014 Jun;61(6):1034-40. doi: 10.1002/pbc.24955. Epub 2014 Jan 28.


Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.


Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.


Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.

Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH.

Blood. 2011 Nov 24;118(22):5794-8. doi: 10.1182/blood-2011-07-370148. Epub 2011 Aug 31.


Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease.

Simon DK, Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Nichols WC, Foroud T; Parkinson Study Group-PROGENI Investigators.

BMC Med Genet. 2010 Apr 1;11:53. doi: 10.1186/1471-2350-11-53.


Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators.

Neurology. 2009 Jul 28;73(4):279-86. doi: 10.1212/WNL.0b013e3181af7a33.


Variation in GIGYF2 is not associated with Parkinson disease.

Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators.

Neurology. 2009 Jun 2;72(22):1886-92. doi: 10.1212/01.wnl.0000346517.98982.1b. Epub 2009 Mar 11.

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