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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: bergoffen j. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039

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Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting.

Carwana H, Hoodfar E, Bergoffen J, Li D. Carwana H, et al. Among authors: bergoffen j. Fam Cancer. 2021 Jul;20(3):223-230. doi: 10.1007/s10689-020-00218-w. Epub 2020 Nov 20. Fam Cancer. 2021. PMID: 33215268

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Familial autoimmune myasthenia gravis.

Bergoffen J, Zmijewski CM, Fischbeck KH. Bergoffen J, et al. Neurology. 1994 Mar;44(3 Pt 1):551-4. doi: 10.1212/wnl.44.3_part_1.551. Neurology. 1994. PMID: 7908425

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Comparison of Universal Versus Age-Restricted Screening of Colorectal Tumors for Lynch Syndrome Using Mismatch Repair Immunohistochemistry: A Cohort Study.

Li D, Hoodfar E, Jiang SF, Udaltsova N, Pham NP, Jodesty Y, Armstrong MA, Hung YY, Baker RJ, Postlethwaite D, Ladabaum U, Levin TR, Corley DA, Bergoffen J. Li D, et al. Among authors: bergoffen j. Ann Intern Med. 2019 Jul 2;171(1):19-26. doi: 10.7326/M18-3316. Epub 2019 Jun 11. Ann Intern Med. 2019. PMID: 31181578

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Connexin mutations in X-linked Charcot-Marie-Tooth disease.

Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Bergoffen J, et al. Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101. Science. 1993. PMID: 8266101

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Linkage localization of X-linked Charcot-Marie-Tooth disease.

Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Bergoffen J, et al. Am J Hum Genet. 1993 Feb;52(2):312-8. Am J Hum Genet. 1993. PMID: 8430694 Free PMC article.

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Paternal transmission of congenital myotonic dystrophy.

Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Bergoffen J, et al. J Med Genet. 1994 Jul;31(7):518-20. doi: 10.1136/jmg.31.7.518. J Med Genet. 1994. PMID: 7966187 Free PMC article.

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Diaphragmatic hernia in tetrasomy 12p mosaicism.

Bergoffen J, Punnett H, Campbell TJ, Ross AJ 3rd, Ruchelli E, Zackai EH. Bergoffen J, et al. J Pediatr. 1993 Apr;122(4):603-6. doi: 10.1016/s0022-3476(05)83546-2. J Pediatr. 1993. PMID: 8463911

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR. Gibbons RJ, et al. Among authors: bergoffen j. Nat Genet. 1997 Oct;17(2):146-8. doi: 10.1038/ng1097-146. Nat Genet. 1997. PMID: 9326931 No abstract available.

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Clinical and molecular characterization of patients with distal 11q deletions.

Penny LA, Dell'Aquila M, Jones MC, Bergoffen J, Cunniff C, Fryns JP, Grace E, Graham JM Jr, Kousseff B, Mattina T, et al. Penny LA, et al. Among authors: bergoffen j. Am J Hum Genet. 1995 Mar;56(3):676-83. Am J Hum Genet. 1995. PMID: 7887422 Free PMC article.

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