Patrick R. Blackburn, PhD
Patrick R. Blackburn, PhD

Patrick R. Blackburn, PhD

Assistant Member, St. Jude Faculty

Departments

Education

Laboratory Genetics and Genomics Fellowship - Mayo School of Graduate Medical Education, Rochester, MN
PhD - Clinical and Translational Sciences, Mayo Clinic Graduate School, Rochester, MN
BS – Biochemistry and Molecular Biology, University of Florida, Gainesville, FL

Research Interests

  • Clinical laboratory genetics and genomics
  • Genetics of rare and orphan diseases
  • Functional validation and modeling of genetic alterations for translational applications

Selected Publications

Blackburn PR, Carter JM, OglesbeeD, Westendorf JJ, Neff BA, Stitchel D, Tsen DW, Gavrilova RH, Wesseling P, von Deimling A, Caulfield TR, Klee EW, Pusch S, Inwards CY. An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid. HGG Advances Aug 24, 2020. doi: 10.1016/j.xhgg.2020.100006

Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Ann Clin Transl Neurol Jun;7(6):1013-1028, 2020. doi: 10.1002/acn3.51074. PMID: 32519519 

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet Jun 1, 2020. doi: 10.1038/s41431-020-0654-4

Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bezieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogne B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Heron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Kury S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH.  Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron May 6;106(3):404-420.e8, 2020. PMID: 32135084 doi: 10.1016/j.neuron.2020.01.042 

Blackburn PR, Smadbeck JB, Znoyko I, Webley MR, Pitel BA, Vasmatzis G, Xu X, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Lindsey KG, Schandl CA, Wolff DJ, Peterson JF. Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia. Genes Chromosomes Cancer Jul;59(7):422-427, 2020. PMID: 32196814 doi: 10.1002/gcc.22842

Zawerton A*, Mignot C*, Sigafoos A*, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Wassink-Ruiter JSK, Bijlsma E, Hoffer EJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang R, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AM, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A, Deciphering Developmental Disorder Study, Klee EW, Lefebvre V, Clark KJ, Depienne C. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med Oct 3, 2019. doi: 10.1038/s41436-019-0657-0

Blessing MM*, Blackburn PR*, Krishnan C, Harrod VL, Barr Fritcher EG, Zysk CD, Jackson RA, Milosevic D, Nair AA, Davila JI, Balcom JR, Jenkins RB, Halling KC, Kipp BR, Nageswara Rao AA, Laack NN, Daniels DJ, Macon WR, Ida CM. Desmoplastic Infantile Ganglioglioma: A MAPK pathway-driven and Microglia/Macrophage-rich Neuroepithelial Tumor. J Neuropathol Exp Neurol Sep 28;nlz086, 2019. doi: 10.1093/jnen/nlz086.

Blackburn PR, Milosevic D, Marek T, Folpe AL, Howe BM, Spinner RJ, Carter JM. PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. Mod Pathol Sep 3, 2019. doi: 10.1038/s41379-019-0354-1

Blackburn PR, Davila JI, Jackson RA, Fadra N, Atiq MA, Pitel BA, Nair AA, VanDeWalker TJ, Hessler MG, Hovel SK, Wehrs RN, Fritchie KJ, Jenkins RB, Halling KC, Geiersbach KB. RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst. Genes Chromosomes Cancer Aug;58(8):589-594, 2019. PMID: 30767316 doi: 10.1002/gcc.22742

Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C, DDD Study. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med Jun 26, 2019. PMID: 31239556 doi: 10.1038/s41436-019-0585-z

Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, Garcia-Minaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. Eur J Hum Genet May 3, 2019. PMID: 31053785 doi: 10.1038/s41431-019-0423-4

Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol May 1;78(5):460-466, 2019. PMID: 30990878 PMCID: 6467195 doi: 10.1093/jnen/nlz018

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn PR, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Arboleda VA, Newbury-Ecob R, DDD Study. KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med Apr;21(4):850-860, 2019. PMID: 30245513 doi: 10.1038/s41436-018-0259-2

Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, Clayton-Smith J, DDD Study. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am J Med Genet A Apr;179(4):570-578, 2019. PMID: 30734472 doi: 10.1002/ajmg.a.61061

Cogne B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjold M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla OL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk OL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denomme-Pichon AS, Ferec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bezieau S, Kury S,

Campeau PM, CAUSES Study//Deciphering Developmental Disorders study. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet Mar 7;104(3):530-541, 2019. PMID: 30827496 PMCID: 6407527 doi: 10.1016/j.ajhg.2019.01.010

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vazquez-do-Campo R, Klee EW, Labbe C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA. PCNT point mutations and familial intracranial aneurysms. Neurology Dec 4;91(23):e2170-e2181, 2018. PMID: 30413633 PMCID: 6282233 doi: 10.1212/WNL.0000000000006614

Blackburn PR, Chacon-Camacho OF, Ortiz-Gonzalez XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. Am J Med Genet A Dec;176(12):2710-2719, 2018. PMID: 30450772 doi: 10.1002/ajmg.a.40644

Ignatius MS, Hayes MN, Moore FE, Tang Q, Garcia SP, Blackburn PR, Baxi K, Wang L, Jin A, Ramakrishnan A, Reeder S, Chen Y, Nielsen GP, Chen EY, Hasserjian RP, Tirode F, Ekker SC, Langenau DM. tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish. Elife Sep 7;7, 2018. PMID: 30192230 PMCID: 6128690 doi: 10.7554/eLife.37202

Blackburn PR*, Xu Z*, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet Apr 5;102(4):696-705, 2018. PMID: 29606302 PMCID: 5985336 doi: 10.1016/j.ajhg.2018.02.018

Cousin MA, Smith MJ, Sigafoos AN, Jin JJ, Murphree MI, Boczek NJ, Blackburn PR, Oliver GR, Aleff RA, Clark KJ, Wieben ED, Joshi AY, Pichurin PN, Abraham RS, Klee EW. Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies. J Clin Immunol Apr;38(3):307-319, 2018. PMID: 29671115 doi: 10.1007/s10875-018-0499-6

Last update: August 2020

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