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Annals of vascular surgery, 08/2019
Patient centered research requires active engagement of patients. The Vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to... 
Journal Article
Neurology: Clinical Practice, ISSN 2163-0402, 02/2018, Volume 8, Issue 1, pp. 27 - 32
Because of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis.... 
Ataxia | Genetic aspects | Research | Analysis | Risk factors | Genetic screening | 163 | Review
Journal Article
Earthquake Spectra, ISSN 8755-2930, 11/2003, Volume 19, Issue 4, pp. 733 - 752
This paper presents a conceptual framework to define seismic resilience of communities and quantitative measures of resilience that can be useful for a... 
ENGINEERING, GEOLOGICAL | ENGINEERING, CIVIL
Journal Article
Journal Article
Archives of Pathology and Laboratory Medicine, ISSN 0003-9985, 01/2014, Volume 138, Issue 1, pp. 110 - 113
Context.-Tests that are performed outside of the ordering institution, send-out tests, represent an area of risk to patients because of complexity associated... 
MEDICINE, RESEARCH & EXPERIMENTAL | MEDICAL LABORATORY TECHNOLOGY | PATHOLOGY | MEDICINE | CARE | Laboratories - utilization | Genetic Testing - economics | Genetic Testing - utilization | Laboratories - economics | Humans | Medical colleges | Consulting services | Genetic screening
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 144 - 151
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 6/2018, Volume 27, Issue 3, pp. 656 - 664
Journal Article
ANNALS OF VASCULAR SURGERY, ISSN 0890-5096, 01/2020, Volume 62, pp. 326 - 334
Background: Patient-centered research requires active engagement of patients. The vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established... 
SURGERY | HEALTH RECORD | DIAGNOSIS | PERIPHERAL VASCULAR DISEASE | SYNDROME TYPE-IV | HAPLOINSUFFICIENCY
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1... 
genotype–phenotype correlation | NF1 | p.Lys1423 | p.Met1149 | p.Arg1276
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 299 - 315
Journal Article
Biology of Blood and Marrow Transplantation, ISSN 1083-8791, 03/2018, Volume 24, Issue 3, pp. S438 - S439
Journal Article
Human Mutation, ISSN 1059-7794, 10/2013, Volume 34, Issue 10, pp. 1415 - 1423
Journal Article