Karlla Brigatti

TitleAdjunct Faculty
InstitutionThomas Jefferson University
DepartmentJefferson College of Life Scie
Address1020 Locust St.
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Williams KB, Horst M, Young M, Pascua C, Puffenberger EG, Brigatti KW, Gonzaga-Jauregui C, Shuldiner AR, Gidding S, Strauss KA, Chowdhury D. Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B. BMC Cardiovasc Disord. 2022 03 17; 22(1):109. PMID: 35300601.
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    2. Aronson SJ, Junge N, Trabelsi M, Kelmemi W, Hubert A, Brigatti KW, Fox MD, de Knegt RJ, Escher JC, Ginocchio VM, Iorio R, Zhu Y, Özçay F, Rahim F, El-Shabrawi MHF, Shteyer E, Di Giorgio A, D'Antiga L, Mingozzi F, Brunetti-Pierri N, Strauss KA, Labrune P, Mrad R, Baumann U, Beuers U, Bosma PJ. Disease burden and management of Crigler-Najjar syndrome: Report of a world registry. Liver Int. 2022 Mar 11. PMID: 35274801.
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    3. Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A. APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. Mol Cell. 2022 01 06; 82(1):90-105.e13. PMID: 34942119.
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    4. Carson VJ, Young M, Brigatti KW, Robinson DL, Reed RM, Sohn J, Petrillo M, Farwell W, Miller F, Strauss KA. Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy. Muscle Nerve. 2022 01; 65(1):51-59. PMID: 34606118.
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    5. de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S. Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. Nat Commun. 2021 09 01; 12(1):4087. PMID: 34471112.
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    6. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341. PMID: 34102099.
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    7. Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Mol Genet Metab Rep. 2021 Mar; 26:100699. PMID: 33457206.
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    8. Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Mol Genet Metab. 2020 11; 131(3):325-340. PMID: 33069577.
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    9. Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777. PMID: 32937143.
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    10. Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020 04 01; 143(4):e31. PMID: 32227164.
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    11. Strauss KA, Ahlfors CE, Soltys K, Mazareigos GV, Young M, Bowser LE, Fox MD, Squires JE, McKiernan P, Brigatti KW, Puffenberger EG, Carson VJ, Vreman HJ. Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier. Hepatology. 2020 06; 71(6):1923-1939. PMID: 31553814.
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    12. Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Branched-chain a-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Mol Genet Metab. 2020 03; 129(3):193-206. PMID: 31980395.
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    13. Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2019 02 15; 28(4):525-538. PMID: 30304524.
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    14. Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier. Mol Genet Metab. 2019 04; 126(4):475-488. PMID: 30691927.
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    15. Strauss KA, Carson VJ, Brigatti KW, Young M, Robinson DL, Hendrickson C, Fox MD, Reed RM, Puffenberger EG, Mackenzie W, Miller F. Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. J Pediatr Orthop. 2018 Nov/Dec; 38(10):e610-e617. PMID: 30134351.
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    16. Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 11 01; 103(5):794-807. PMID: 30401460.
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    17. Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Hum Mol Genet. 2018 09 15; 27(18):3272-3282. PMID: 29931346.
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    18. Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018; 13(9):e0202104. PMID: 30188899.
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    19. Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet. 2017 Dec 07; 101(6):985-994. PMID: 29198724.
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    20. Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med. 2018 01; 20(1):31-41. PMID: 28726809.
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    21. Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129. PMID: 27773430.
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    22. Isaacs CJ, Brigatti KW, Kucheruk O, Ratcliffe S, Sciascia T, McCormack SE, Willi SM, Lynch DR. Effects of genetic severity on glucose homeostasis in Friedreich ataxia. Muscle Nerve. 2016 11; 54(5):887-894. PMID: 27061687.
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    23. Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016 09; 3(9):684-94. PMID: 27648458.
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    24. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 06; 97(2):343-52. PMID: 26235985.
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    25. Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, Christie C, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Brocht AF, Farmer JM, Wilson RB, Deutsch EC, Lynch DR. Frataxin levels in peripheral tissue in Friedreich ataxia. Ann Clin Transl Neurol. 2015 Aug; 2(8):831-42. PMID: 26339677.
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    26. Brigatti KW, Deutsch EC, Lynch DR, Farmer JM. Novel diagnostic paradigms for Friedreich ataxia. J Child Neurol. 2012 Sep; 27(9):1146-51. PMID: 22752491.
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    27. Regner SR, Wilcox NS, Friedman LS, Seyer LA, Schadt KA, Brigatti KW, Perlman S, Delatycki M, Wilmot GR, Gomez CM, Bushara KO, Mathews KD, Subramony SH, Ashizawa T, Ravina B, Brocht A, Farmer JM, Lynch DR. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol. 2012 Sep; 27(9):1152-8. PMID: 22752494.
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    28. Lynch DR, Willi SM, Wilson RB, Cotticelli MG, Brigatti KW, Deutsch EC, Kucheruk O, Shrader W, Rioux P, Miller G, Hawi A, Sciascia T. A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord. 2012 Jul; 27(8):1026-33. PMID: 22744651.
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    29. Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR. Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. Am J Obstet Gynecol. 2010 Sep; 203(3):224.e1-5. PMID: 20478553.
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    30. Brigatti KW, Malone FD. First-trimester screening for aneuploidy. Obstet Gynecol Clin North Am. 2004 Mar; 31(1):v, 1-20. PMID: 15062444.
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