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Items: 21

1.

Diagnostic insights into chronic-inflammatory demyelinating polyneuropathies.

Roggenbuck JJ, Boucraut J, Delmont E, Conrad K, Roggenbuck D.

Ann Transl Med. 2018 Sep;6(17):337. doi: 10.21037/atm.2018.07.34. Review.

2.

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.

Wagner KN, Nagaraja HN, Allain DC, Quick A, Kolb SJ, Roggenbuck J.

Mol Genet Genomic Med. 2018 Mar;6(2):224-229. doi: 10.1002/mgg3.360. Epub 2017 Dec 20.

3.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Iyadurai S, Arnold WD, Kissel JT, Ruhno C, Mcgovern VL, Snyder PJ, Prior TW, Roggenbuck J, Burghes AH, Kolb SJ.

Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20.

4.

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.

Wagner KN, Nagaraja H, Allain DC, Quick A, Kolb S, Roggenbuck J.

J Genet Couns. 2017 Jun;26(3):604-611. doi: 10.1007/s10897-016-0034-y. Epub 2016 Oct 20.

PMID:
27761850
5.

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.

Roggenbuck J, Quick A, Kolb SJ.

Genet Med. 2017 Mar;19(3):267-274. doi: 10.1038/gim.2016.107. Epub 2016 Aug 18. Review.

PMID:
27537704
6.

Erratum to: The Long and Short of Genetic Counseling Letters: A Case-control Study.

Roggenbuck J, Temme R, Pond D, Baker J, Jarvis K, Liu M, Dugan S, Mendelsohn NJ.

J Genet Couns. 2016 Feb;25(1):211. doi: 10.1007/s10897-015-9904-y. No abstract available.

PMID:
26531311
7.

The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.

Hoyle JC, Isfort MC, Roggenbuck J, Arnold WD.

Appl Clin Genet. 2015 Oct 19;8:235-43. doi: 10.2147/TACG.S69969. eCollection 2015. Review.

8.

Synthesis of Mesoporous Metal Oxides by Structure Replication: Thermal Analysis of Metal Nitrates in Porous Carbon Matrices.

Weinberger C, Roggenbuck J, Hanss J, Tiemann M.

Nanomaterials (Basel). 2015 Aug 28;5(3):1431-1441. doi: 10.3390/nano5031431.

9.

The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.

Roggenbuck J, Temme R, Pond D, Baker J, Jarvis K, Liu M, Dugan S, Mendelsohn NJ.

J Genet Couns. 2015 Aug;24(4):645-53. doi: 10.1007/s10897-014-9792-6. Epub 2014 Dec 14. Erratum in: J Genet Couns. 2016 Feb;25(1):211.

PMID:
25502223
10.

FAM20A mutations associated with enamel renal syndrome.

Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC.

J Dent Res. 2014 Jan;93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6.

11.

CF versus CRMS: diagnostic challenges in cystic fibrosis.

Temme R, Roggenbuck J, McNamara J.

Minn Med. 2012 Oct;95(10):42-4.

PMID:
23193705
12.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

13.

A high temperature capacitive humidity sensor based on mesoporous silica.

Wagner T, Krotzky S, Weiss A, Sauerwald T, Kohl CD, Roggenbuck J, Tiemann M.

Sensors (Basel). 2011;11(3):3135-44. doi: 10.3390/s110303135. Epub 2011 Mar 14.

14.

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR.

Am J Med Genet A. 2009 Aug;149A(8):1624-7. doi: 10.1002/ajmg.a.32834.

PMID:
19572402
15.
16.

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM.

Am J Med Genet A. 2004 May 1;126A(4):398-402. Review.

PMID:
15098238
17.

Perception of genetic risk among genetic counselors.

Roggenbuck J, Olson JE, Sellers TA, Ludowese C.

J Genet Couns. 2000 Feb;9(1):47-59.

PMID:
12530454
18.

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.

Zhou XP, Hampel H, Roggenbuck J, Saba N, Prior TW, Eng C.

J Mol Diagn. 2002 May;4(2):114-7.

19.

An experimental and theoretical study of the product distribution of the reaction CH2 (X 3B1) + NO.

Fikri M, Meyer S, Roggenbuck J, Temps F.

Faraday Discuss. 2001;(119):223-42; discussion 255-74.

PMID:
11877993
20.

High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample.

Ehrlich M, Tsien F, Herrera D, Blackman V, Roggenbuck J, Tuck-Muller CM.

J Med Genet. 2001 Dec;38(12):882-4. No abstract available.

21.

Unique case of trisomy 2p24.3-pter with no associated monosomy.

Roggenbuck JA, Fink JM, Mendelsohn NJ.

Am J Med Genet. 2001 Jun 1;101(1):50-4.

PMID:
11343338

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