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ArticlesPeer ReviewedFull Text
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Author / Creator:Piotrowski, Arkadiusz ; Xie, Jing ; Liu, Ying F ; Poplawski, Andrzej B ; Gomes, Alicia R ; Madanecki, Piotr ; Fu, Chuanhua ; Crowley, Michael R ; Crossman, David K ; Armstrong, Linlea ; Babovic-Vuksanovic, Dusica ; Bergner, Amanda ; Blakeley, Jaishri O ; Blumenthal, Andrea L ; Daniels, Molly S ; Feit, Howard ; Gardner, Kathy ; Hurst, Stephanie ; Kobelka, Christine ; Lee, Chung ; Nagy, Rebecca ; Rauen, Katherine A ; Slopis, John M ; Suwannarat, Pim ; Westman, Judith A ; Zanko, Andrea ; Korf, Bruce R ; Messiaen, Ludwine M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-02, Vol.46 (2), p.182-187
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ArticlesPeer ReviewedFull Text
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease
Author / Creator:Fiallos, Katie ; Applegate, Carolyn ; Mathews, Debra JH ; Bollinger, Juli ; Bergner, Amanda L ; James, Cynthia A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.530-537
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ArticlesPeer ReviewedFull Text
Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model
Author / Creator:Rhodes, Steven D. ; Zhang, Wei ; Yang, Dalong ; Yang, Hao ; Chen, Shi ; Wu, Xiaohua ; Li, Xiaohong ; Yang, Xianlin ; Mohammad, Khalid S. ; Guise, Theresa A. ; Bergner, Amanda L. ; Stevenson, David A. ; Yang, Feng-Chun
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0119093-e0119093
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ArticlesPeer ReviewedFull Text
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results
Author / Creator:Berrios, Courtney ; James, Cynthia A. ; Raraigh, Karen ; Bollinger, Juli ; Murray, Brittney ; Tichnell, Crystal ; Applegate, Carolyn D. ; Bergner, Amanda L.
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2018-02, Vol.27 (1), p.263-273
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ArticlesPeer ReviewedFull Text
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling
Author / Creator:Doyle, Debra Lochner ; Awwad, Rawan I. ; Austin, Jehannine C. ; Baty, Bonnie J. ; Bergner, Amanda L. ; Brewster, Stephanie J. ; Erby, Lori A. H. ; Franklin, Cathi Rubin ; Greb, Anne E. ; Grubs, Robin E. ; Hooker, Gillian W. ; Noblin, Sarah Jane ; Ormond, Kelly E. ; Palmer, Christina G. ; Petty, Elizabeth M. ; Singletary, Claire N. ; Thomas, Matthew J. ; Toriello, Helga ; Walton, Carol S. ; Uhlmann, Wendy R.
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2016-10, Vol.25 (5), p.868-879
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ArticlesPeer ReviewedFull Text
The Dynamics of a Genetic Counseling Peer Supervision Group
Author / Creator:Lewis, Katie L. ; Erby, Lori A. H. ; Bergner, Amanda L. ; Reed, E. Kate ; Johnson, Maria R. ; Adcock, Jessica Y. ; Weaver, Meredith A.
Publisher:New York: Springer US
Journal title:Journal of genetic counseling, 2017-06, Vol.26 (3), p.532-540
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Newspaper ArticlesFull Text
Triathlon training is a team effort ; Athletes help one another as they prepare to swim, cycle and run, and they raise money to fight disease: HOWARD Edition
Author / Creator:Seidel, Jeff
Publisher:Baltimore, Md: Tribune Publishing Company, LLC
Journal title:The Sun (Baltimore, Md. : 1837), 2006-03-08
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ArticlesPeer ReviewedFull Text
Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation
Author / Creator:Cohn, Ronald D ; Eklund, Erik ; Bergner, Amanda L ; Casella, James F ; Woods, S. Lee ; Althaus, Janyne ; Blakemore, Karin J ; Fox, Harold E ; Hoover-Fong, Julie E ; Hamosh, Ada ; Braverman, Nancy E ; Freeze, Hudson H ; Boyadjiev, Simeon A
Publisher:United States: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2006-08, Vol.118 (2), p.e514-e521
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ArticlesPeer ReviewedFull Text
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Author / Creator:Martin, Bree E ; Sands, Tristan ; Bier, Louise ; Bergner, Amanda ; Boehme, Amelia K ; Lippa, Natalie
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-07, Vol.61 (7), p.645-651
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ArticlesPeer ReviewedFull Text
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.(Author abstract)
Author / Creator:Cohn, Ronald D ; Eklund, Erik ; Bergner, Amanda L ; Casella, James F ; Woods, S. Lee ; Althaus, Janyne ; Blakemore, Karin J ; Fox, Harold E ; Hoover-Fong, Julie E ; Hamosh, Ada ; Braverman, Nancy E ; Freeze, Hudson H ; Boyadjiev, Simeon A
Publisher:Evanston: American Academy of Pediatrics
Journal title:Pediatrics (Evanston), 2006-08, Vol.118 (2), p.785
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ArticlesPeer ReviewedFull Text
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Author / Creator:Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre ; Pancza, Patrice ; Avery, Robert A. ; Berman, Yemima ; Blakeley, Jaishri ; Babovic-Vuksanovic, Dusica ; Cunha, Karin Soares ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Gutmann, David H. ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; Peltonen, Sirkku ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Tadini, Gianluca ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Gomes, Alicia ; Jordan, Justin T. ; Mautner, Victor ; Merker, Vanessa L. ; Smith, Miriam J. ; Stevenson, David ; Anten, Monique ; Aylsworth, Arthur ; Baralle, Diana ; Barbarot, Sebastien ; Barker, Fred ; Ben-Shachar, Shay ; Bergner, Amanda ; Bessis, Didier ; Blanco, Ignacio ; Cassiman, Catherine ; Ciavarelli, Patricia ; Clementi, Maurizio ; Frébourg, Thierry ; Giovannini, Marco ; Halliday, Dorothy ; Hammond, Chris ; Hanemann, C.O. ; Hanson, Helen ; Heiberg, Arvid ; Joly, Pascal ; Kalamarides, Michel ; Karajannis, Matthias ; Kroshinsky, Daniela ; Larralde, Margarita ; Lázaro, Conxi ; Le, Lu ; Link, Michael ; Listernick, Robert ; MacCollin, Mia ; Mallucci, Conor ; Moertel, Christopher ; Mueller, Amy ; Ngeow, Joanne ; Oostenbrink, Rianne ; Packer, Roger ; Papi, Laura ; Parry, Allyson ; Peltonen, Juha ; Pichard, Dominique ; Poppe, Bruce ; Rezende, Nilton ; Rodrigues, Luiz Oswaldo ; Rosser, Tena ; Ruggieri, Martino ; Serra, Eduard ; Steinke-Lange, Verena ; Stivaros, Stavros Michael ; Taylor, Amy ; Toelen, Jaan ; Tonsgard, James ; Trevisson, Eva ; Upadhyaya, Meena ; Varan, Ali ; Wilson, Meredith ; Wu, Hao ; Zadeh, Gelareh ; Huson, Susan M. ; Evans, D. Gareth ; Plotkin, Scott R.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513
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Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing
Author / Creator:Elliott, Aaron ; Bergner, Amanda
Publisher:United States: Endeavor Business Media
Journal title:MLO. Medical laboratory observer, 2016-02, Vol.48 (2), p.36, 39-39
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

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Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease

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Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model

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Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results

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2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling

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The Dynamics of a Genetic Counseling Peer Supervision Group

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Triathlon training is a team effort ; Athletes help one another as they prepare to swim, cycle and run, and they raise money to fight disease: HOWARD Edition

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Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation

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Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort

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Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.(Author abstract)

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

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Improving the molecular diagnosis and treatment of epilepsy with complex genetic testing

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