Allyn McConkie-Rosell
Professor in Pediatrics
Undiagnosed disorders are often not amenable to the traditional diagnostic approaches and the lack of a diagnosis leads to repeated clinical consultations and laboratory testing, causing substantial personal and familial emotional and financial stress. For parents of children with undiagnosed diseases, the extensive search for a diagnosis and inherent uncertainty surrounding their child’s health can result in stress, frustration and worries about worsening of symptoms and delays in treatment or inappropriate treatment. As genetic testing becomes more advanced so do the expectations, associated uncertainty, and if diagnosed, an increased the frequency of a diagnosis of an ultra-rare disorder. Thus, it is important to describe the complex emotional experience and the relationship to health care engagement and to follow this process in real time with parents as they are experiencing the diagnostic process in order to better understand their needs and to develop strategies to improve outcomes. Challenges posed by WES for clinicians are largely by virtue of variation in the clinical relevance of results. For instance, many cases require clinical follow-up of variants of uncertain significance and secondary/incidental findings, and it has become necessary communicate effectively with patients/families at multiple stages to both educate and address expectations (pre-test counseling) and relay uncertain or less understood results (post-test counseling). Likewise, parents of children with rare disorders may be challenged to understand the process, the outcome, the certainty of the diagnosis; effectively communicate information to family members and providers; and use the new information to the benefit their of families. Responsive to these shifting clinical needs, my research is focused on exploring how families manage genetic information with the goal of identifying genetic counseling strategies to facilitate their positive adaptation, coping, and use of information.
Current Research Interests
Undiagnosed disorders are often not amenable to the traditional diagnostic approaches and the lack of a diagnosis leads to repeated clinical consultations and laboratory testing, causing substantial personal and familial emotional and financial stress. For parents of children with undiagnosed diseases, the extensive search for a diagnosis and inherent uncertainty surrounding their child’s health can result in stress, frustration and worries about worsening of symptoms and delays in treatment or inappropriate treatment. As genetic testing becomes more advanced so do the expectations, associated uncertainty, and if diagnosed, an increased the frequency of a diagnosis of an ultra-rare disorder. Thus, it is important to describe the complex emotional experience and the relationship to health care engagement and to follow this process in real time with parents as they are experiencing the diagnostic process in order to better understand their needs and to develop strategies to improve outcomes. Challenges posed by WES for clinicians are largely by virtue of variation in the clinical relevance of results. For instance, many cases require clinical follow-up of variants of uncertain significance and secondary/incidental findings, and it has become necessary communicate effectively with patients/families at multiple stages to both educate and address expectations (pre-test counseling) and relay uncertain or less understood results (post-test counseling). Likewise, parents of children with rare disorders may be challenged to understand the process, the outcome, the certainty of the diagnosis; effectively communicate information to family members and providers; and use the new information to the benefit their of families. Responsive to these shifting clinical needs, my research is focused on exploring how families manage genetic information with the goal of identifying genetic counseling strategies to facilitate their positive adaptation, coping, and use of information.
Current Appointments & Affiliations
- Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2017
Contact Information
- Box 103857 DUMC, Durham, NC 27710
- Room 2081, Gsrbi, 595 Lasalle Street, Durham, NC 27710
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allyn.mcconkie@duke.edu
(919) 681-1949
- Background
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Education, Training, & Certifications
- Ph.D., University of North Carolina at Chapel Hill 1999
- 1980, University of Arkansas at Little Rock - 1980
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Duke Appointment History
- Associate Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2015 - 2017
- Associate Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2006 - 2015
- Associate Research Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2005 - 2006
- Assistant Research Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2000 - 2005
- Clinical Associate in the Department of Pediatrics, Pediatrics, Medical Genetics, Pediatrics 1994 - 2000
- Research
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Selected Grants
- An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2022
- Assessing Risk Communication Educational Practices in Genetic Counseling Programs awarded by National Institutes of Health 2008 - 2012
- What about adolescence? Living with genetic risk awarded by National Institutes of Health 2004 - 2007
- Phenotypic Markers in Females with Fragile X Premutation awarded by National Institutes of Health 2001 - 2003
- Spore In Breast Cancer awarded by National Institutes of Health 1995 - 1998
- Publications & Artistic Works
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Selected Publications
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Academic Articles
- Shashi, V, Schoch, K, Spillmann, R, Cope, H, Tan, QK-G, Walley, N, Pena, L, McConkie-Rosell, A, Jiang, Y-H, Stong, N, Need, AC, Goldstein, DB, and Undiagnosed Diseases Network, . "A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 1 (January 2019): 161-172. Full Text
- Slone, J, Peng, Y, Chamberlin, A, Harris, B, Kaylor, J, McDonald, MT, Lemmon, M, El-Dairi, MA, Tchapyjnikov, D, Gonzalez-Krellwitz, LA, Sellars, EA, McConkie-Rosell, A, Reinholdt, LG, and Huang, T. "Biallelic mutations in FDXR cause neurodegeneration associated with inflammation." Journal of Human Genetics 63, no. 12 (December 2018): 1211-1222. Full Text
- Marcogliese, PC, Shashi, V, Spillmann, RC, Stong, N, Rosenfeld, JA, Koenig, MK, Martínez-Agosto, JA, Herzog, M, Chen, AH, Dickson, PI, Lin, HJ, Vera, MU, Salamon, N, Graham, JM, Ortiz, D, Infante, E, Steyaert, W, Dermaut, B, Poppe, B, Chung, H-L, Zuo, Z, Lee, P-T, Kanca, O, Xia, F, Yang, Y, Smith, EC, Jasien, J, Kansagra, S, Spiridigliozzi, G, El-Dairi, M, Lark, R, Riley, K, Koeberl, DD, Golden-Grant, K, Program for Undiagnosed Diseases (UD-PrOZA), , Undiagnosed Diseases Network, , Yamamoto, S, Wangler, MF, Mirzaa, G, Hemelsoet, D, Lee, B, Nelson, SF, Goldstein, DB, Bellen, HJ, and Pena, LDM. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics 103, no. 3 (September 2018): 456-null. Full Text
- Palmer, CGS, McConkie-Rosell, A, Holm, IA, LeBlanc, K, Sinsheimer, JS, Briere, LC, Dorrani, N, Herzog, MR, Lincoln, S, Schoch, K, Spillmann, RC, Brokamp, E, and Undiagnosed Diseases Network, . "Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network." Journal of Genetic Counseling 27, no. 5 (September 2018): 1087-1101. Full Text
- Walley, NM, Pena, LDM, Hooper, SR, Cope, H, Jiang, Y-H, McConkie-Rosell, A, Sanders, C, Schoch, K, Spillmann, RC, Strong, K, McCray, AT, Mazur, P, Esteves, C, LeBlanc, K, Undiagnosed Diseases Network, , Wise, AL, and Shashi, V. "Characteristics of undiagnosed diseases network applicants: implications for referring providers." Bmc Health Services Research 18, no. 1 (August 22, 2018): 652-null. Full Text
- Marcogliese, PC, Shashi, V, Spillmann, RC, Stong, N, Rosenfeld, JA, Koenig, MK, Martínez-Agosto, JA, Herzog, M, Chen, AH, Dickson, PI, Lin, HJ, Vera, MU, Salamon, N, Graham, JM, Ortiz, D, Infante, E, Steyaert, W, Dermaut, B, Poppe, B, Chung, H-L, Zuo, Z, Lee, P-T, Kanca, O, Xia, F, Yang, Y, Smith, EC, Jasien, J, Kansagra, S, Spiridigliozzi, G, El-Dairi, M, Lark, R, Riley, K, Koeberl, DD, Golden-Grant, K, Program for Undiagnosed Diseases (UD-PrOZA), , Undiagnosed Diseases Network, , Yamamoto, S, Wangler, MF, Mirzaa, G, Hemelsoet, D, Lee, B, Nelson, SF, Goldstein, DB, Bellen, HJ, and Pena, LDM. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics 103, no. 2 (August 2018): 245-260. Full Text
- McConkie-Rosell, A, Hooper, SR, Pena, LDM, Schoch, K, Spillmann, RC, Jiang, Y-H, Cope, H, Undiagnosed Diseases Network, , Palmer, C, and Shashi, V. "Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?." Journal of Genetic Counseling 27, no. 4 (August 2018): 935-946. Full Text
- Liu, N, Schoch, K, Luo, X, Pena, LDM, Bhavana, VH, Kukolich, MK, Stringer, S, Powis, Z, Radtke, K, Mroske, C, Deak, KL, McDonald, MT, McConkie-Rosell, A, Markert, ML, Kranz, PG, Stong, N, Need, AC, Bick, D, Amaral, MD, Worthey, EA, Levy, S, Undiagnosed Diseases Network (UDN), , Wangler, MF, Bellen, HJ, Shashi, V, and Yamamoto, S. "Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder." Human Molecular Genetics 27, no. 14 (July 2018): 2454-2465. Full Text
- Duffney, LJ, Valdez, P, Tremblay, MW, Cao, X, Montgomery, S, McConkie-Rosell, A, and Jiang, Y-H. "Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review." American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics 177, no. 4 (June 2018): 426-433. Full Text
- Pena, LDM, Jiang, Y-H, Schoch, K, Spillmann, RC, Walley, N, Stong, N, Rapisardo Horn, S, Sullivan, JA, McConkie-Rosell, A, Kansagra, S, Smith, EC, El-Dairi, M, Bellet, J, Keels, MA, Jasien, J, Kranz, PG, Noel, R, Nagaraj, SK, Lark, RK, Wechsler, DSG, Del Gaudio, D, Leung, ML, Hendon, LG, Parker, CC, Jones, KL, Undiagnosed Diseases Network Members, , Goldstein, DB, and Shashi, V. "Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases." Genetics in Medicine : Official Journal of the American College of Medical Genetics 20, no. 4 (April 2018): 464-469. Full Text Open Access Copy
- Oláhová, M, Yoon, WH, Thompson, K, Jangam, S, Fernandez, L, Davidson, JM, Kyle, JE, Grove, ME, Fisk, DG, Kohler, JN, Holmes, M, Dries, AM, Huang, Y, Zhao, C, Contrepois, K, Zappala, Z, Frésard, L, Waggott, D, Zink, EM, Kim, Y-M, Heyman, HM, Stratton, KG, Webb-Robertson, B-JM, Undiagnosed Diseases Network, , Snyder, M, Merker, JD, Montgomery, SB, Fisher, PG, Feichtinger, RG, Mayr, JA, Hall, J, Barbosa, IA, Simpson, MA, Deshpande, C, Waters, KM, Koeller, DM, Metz, TO, Morris, AA, Schelley, S, Cowan, T, Friederich, MW, McFarland, R, Van Hove, JLK, Enns, GM, Yamamoto, S, Ashley, EA, Wangler, MF, Taylor, RW, Bellen, HJ, Bernstein, JA, and Wheeler, MT. "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder." American Journal of Human Genetics 102, no. 3 (March 2018): 494-504. Full Text
- Tan, QK-G, McConkie-Rosell, A, Juusola, J, Gustafson, KE, Pizoli, CE, Buckley, AF, and Jiang, Y-H. "The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis." Cold Spring Harbor Molecular Case Studies 3, no. 6 (November 21, 2017). Full Text
- Wangler, MF, Yamamoto, S, Chao, H-T, Posey, JE, Westerfield, M, Postlethwait, J, Members of the Undiagnosed Diseases Network (UDN), , Hieter, P, Boycott, KM, Campeau, PM, and Bellen, HJ. "Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research." Genetics 207, no. 1 (September 2017): 9-27. (Review) Full Text
- Stern, D, Cho, MT, Chikarmane, R, Willaert, R, Retterer, K, Kendall, F, Deardorff, M, Hopkins, S, Bedoukian, E, Slavotinek, A, Schrier Vergano, S, Spangler, B, McDonald, M, McConkie-Rosell, A, Burton, BK, Kim, KH, Oundjian, N, Kronn, D, Chandy, N, Baskin, B, Guillen Sacoto, MJ, Wentzensen, IM, McLaughlin, HM, McKnight, D, and Chung, WK. "Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures." Clinical Genetics 92, no. 2 (August 2017): 221-223. (Letter) Full Text
- Wang, J, Al-Ouran, R, Hu, Y, Kim, S-Y, Wan, Y-W, Wangler, MF, Yamamoto, S, Chao, H-T, Comjean, A, Mohr, SE, UDN, , Perrimon, N, Liu, Z, and Bellen, HJ. "MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome." American Journal of Human Genetics 100, no. 6 (June 2017): 843-853. Full Text
- Spillmann, RC, McConkie-Rosell, A, Pena, L, Jiang, Y-H, Undiagnosed Diseases Network, , Schoch, K, Walley, N, Sanders, C, Sullivan, J, Hooper, SR, and Shashi, V. "A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network." Orphanet Journal of Rare Diseases 12, no. 1 (April 17, 2017): 71-null. Full Text
- Schoch, K, Meng, L, Szelinger, S, Bearden, DR, Stray-Pedersen, A, Busk, OL, Stong, N, Liston, E, Cohn, RD, Scaglia, F, Rosenfeld, JA, Tarpinian, J, Skraban, CM, Deardorff, MA, Friedman, JN, Akdemir, ZC, Walley, N, Mikati, MA, Kranz, PG, Jasien, J, McConkie-Rosell, A, McDonald, M, Wechsler, SB, Freemark, M, Kansagra, S, Freedman, S, Bali, D, Millan, F, Bale, S, Nelson, SF, Lee, H, Dorrani, N, Goldstein, DB, Xiao, R, Yang, Y, Posey, JE, Martinez-Agosto, JA, Lupski, JR, Wangler, MF, and Shashi, V. "A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay." American Journal of Human Genetics 100, no. 2 (February 2, 2017): 343-351. (Academic Article) Full Text Link to Item
- Schoch, K, Meng, L, Szelinger, S, Bearden, DR, Stray-Pedersen, A, Busk, OL, Stong, N, Liston, E, Cohn, RD, Scaglia, F, Rosenfeld, JA, Tarpinian, J, Skraban, CM, Deardorff, MA, Friedman, JN, Akdemir, ZC, Walley, N, Mikati, MA, Kranz, PG, Jasien, J, McConkie-Rosell, A, McDonald, M, Wechsler, SB, Freemark, M, Kansagra, S, Freedman, S, Bali, D, Millan, F, Bale, S, Nelson, SF, Lee, H, Dorrani, N, UCLA Clinical Genomics Center, , Undiagnosed Diseases Network, , Goldstein, DB, Xiao, R, Yang, Y, Posey, JE, Martinez-Agosto, JA, Lupski, JR, Wangler, MF, and Shashi, V. "A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay." American Journal of Human Genetics 100, no. 2 (February 2017): 343-351. Full Text
- Chao, H-T, Davids, M, Burke, E, Pappas, JG, Rosenfeld, JA, McCarty, AJ, Davis, T, Wolfe, L, Toro, C, Tifft, C, Xia, F, Stong, N, Johnson, TK, Warr, CG, Undiagnosed Diseases Network, , Yamamoto, S, Adams, DR, Markello, TC, Gahl, WA, Bellen, HJ, Wangler, MF, and Malicdan, MCV. "A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3." American Journal of Human Genetics 100, no. 1 (January 2017): 128-137. Full Text
- Rosell, AM, Pena, LDM, Schoch, K, Spillmann, R, Sullivan, J, Hooper, SR, Jiang, Y-H, Mathey-Andrews, N, Goldstein, DB, and Shashi, V. "Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders." Journal of Genetic Counseling 25, no. 5 (October 2016): 1019-1031. Full Text
- Shashi, V, Pena, LDM, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Undiagnosed Diseases Network, , Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CTRM, Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkilä, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB, and Kortüm, F. "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype." American Journal of Human Genetics 99, no. 4 (October 2016): 991-999. Full Text
- Shashi, V, McConkie-Rosell, A, Schoch, K, Kasturi, V, Rehder, C, Jiang, YH, Goldstein, DB, and McDonald, MT. "Practical considerations in the clinical application of whole-exome sequencing." Clinical Genetics 89, no. 2 (February 2016): 173-181. Full Text
- Tanaka, AJ, Cho, MT, Retterer, K, Jones, JR, Nowak, C, Douglas, J, Jiang, Y-H, McConkie-Rosell, A, Schaefer, GB, Kaylor, J, Rahman, OA, Telegrafi, A, Friedman, B, Douglas, G, Monaghan, KG, and Chung, WK. "De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features." Cold Spring Harbor molecular case studies 2, no. 1 (January 2016): a000661-. Full Text Open Access Copy
- Shashi, V, Harrell, W, Eack, S, Sanders, C, McConkie-Rosell, A, Keshavan, MS, Bonner, MJ, Schoch, K, and Hooper, SR. "Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention." Journal of Intellectual Disability Research : Jidr 59, no. 10 (October 2015): 902-913. Full Text
- Shashi, V, McConkie-Rosell, A, Rosell, B, Schoch, K, Vellore, K, McDonald, M, Jiang, Y-H, Xie, P, Need, A, and Goldstein, DB. "The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders." Genet Med 16, no. 2 (February 2014): 176-182. Full Text Link to Item
- Sen, P, Yang, Y, Navarro, C, Silva, I, Szafranski, P, Kolodziejska, KE, Dharmadhikari, AV, Mostafa, H, Kozakewich, H, Kearney, D, Cahill, JB, Whitt, M, Bilic, M, Margraf, L, Charles, A, Goldblatt, J, Gibson, K, Lantz, PE, Garvin, AJ, Petty, J, Kiblawi, Z, Zuppan, C, McConkie-Rosell, A, McDonald, MT, Peterson-Carmichael, SL, Gaede, JT, Shivanna, B, Schady, D, Friedlich, PS, Hays, SR, Palafoll, IV, Siebers-Renelt, U, Bohring, A, Finn, LS, Siebert, JR, Galambos, C, Nguyen, L, and Riley, M et al. "Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain." Hum Mutat 34, no. 6 (June 2013): 801-811. Full Text Link to Item
- Abrams, L, Cronister, A, Brown, WT, Tassone, F, Sherman, SL, Finucane, B, McConkie-Rosell, A, Hagerman, R, Kaufmann, WE, Picker, J, Coffey, S, Skinner, D, Johnson, V, Miller, R, and Berry-Kravis, E. "Newborn, carrier, and early childhood screening recommendations for fragile X." Pediatrics 130, no. 6 (December 2012): 1126-1135. (Review) Full Text
- Finucane, B, Abrams, L, Cronister, A, Archibald, AD, Bennett, RL, and McConkie-Rosell, A. "Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors." Journal of Genetic Counseling 21, no. 6 (December 2012): 752-760. Full Text
- Finucane, B, Abrams, L, Cronister, A, Archibald, AD, Bennett, RL, and McConkie-Rosell, A. "Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors." Journal of Genetic Counseling 21, no. 6 (December 2012): 985-985. Full Text
- Finucane, B, Abrams, L, Cronister, A, Archibald, AD, Bennett, RL, and McConkie-Rosell, A. "Erratum: Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the national society of genetic counselors (Journal of Genetic Counseling DOI: 10.1007/s10897-012-9524-8)." Journal of Genetic Counseling 21, no. 6 (December 1, 2012): 985-null. Full Text
- Eunpu, D, Resta, R, McConkie-Rosell, A, and Leroy, BS. "Celebrating the 20th anniversary of the Journal of Genetic Counseling." J Genet Couns 21, no. 1 (February 2012): 1-2. Full Text Link to Item
- McConkie-Rosell, A, Heise, EM, and Spiridigliozzi, GA. "Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome." J Genet Couns 21, no. 1 (February 2012): 59-71. Full Text Link to Item
- Finucane, B, Abrams, L, Cronister, A, Archibald, AD, Bennett, RL, and McConkie-Rosell, A. "Genetic counseling and testing for FMR1 gene mutations: Practice guidelines of the national society of genetic counselors." Journal of Genetic Counseling 21, no. 6 (2012): 752-760. Full Text
- McConkie-Rosell, A, Del Giorno, J, and Heise, EM. "Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective." J Genet Couns 20, no. 1 (February 2011): 58-69. Full Text Link to Item
- Shashi, V, Keshavan, M, Kaczorowski, J, Schoch, K, Lewandowski, KE, McConkie-Rosell, A, Hooper, SR, and Kwapil, TR. "Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling." J Genet Couns 19, no. 5 (October 2010): 535-544. Full Text Link to Item
- Lachiewicz, A, Dawson, D, Spiridigliozzi, G, Cuccaro, M, Lachiewicz, M, and McConkie-Rosell, A. "Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample." J Intellect Disabil Res 54, no. 7 (July 2010): 597-610. Full Text Link to Item
- McConkie-Rosell, A, Heise, EM, and Spiridigliozzi, GA. "Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome." J Genet Couns 18, no. 4 (August 2009): 313-325. Full Text Link to Item
- Wehbe, RM, Spiridigliozzi, GA, Heise, EM, Dawson, DV, and McConkie-Rosell, A. "When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families." Am J Med Genet A 149A, no. 6 (June 2009): 1190-1199. Full Text Link to Item
- McConkie-Rosell, A, Spiridigliozzi, GA, Melvin, E, Dawson, DV, and Lachiewicz, AM. "Living with genetic risk: effect on adolescent self-concept." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 148C, no. 1 (February 2008): 56-69. Full Text
- McConkie-Rosell, A, and Sullivan Saarela, JA. "Editorial: The JOGC journey continues." Journal of Genetic Counseling 17, no. 1 (February 1, 2008): 1-null. Full Text
- McConkie-Rosell, A, Abrams, L, Finucane, B, Cronister, A, Gane, LW, Coffey, SM, Sherman, S, Nelson, LM, Berry-Kravis, E, Hessl, D, Chiu, S, Street, N, Vatave, A, and Hagerman, RJ. "Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders." J Genet Couns 16, no. 5 (October 2007): 593-606. Full Text Link to Item
- Wittenberger, MD, Hagerman, RJ, Sherman, SL, McConkie-Rosell, A, Welt, CK, Rebar, RW, Corrigan, EC, Simpson, JL, and Nelson, LM. "The FMR1 premutation and reproduction." Fertility and Sterility 87, no. 3 (March 2007): 456-465. (Review) Full Text
- Lachiewicz, AM, Dawson, DV, Spiridigliozzi, GA, and McConkie-Rosell, A. "Arithmetic difficulties in females with the fragile X premutation." Am J Med Genet A 140, no. 7 (April 1, 2006): 665-672. Full Text Link to Item
- Kelly, PT. "Test Results: Communication and Counseling." (January 4, 2006): 355-397. (Chapter) Full Text
- McConkie-Rosell, A, Finucane, B, Cronister, A, Abrams, L, Bennett, RL, and Pettersen, BJ. "Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors." J Genet Couns 14, no. 4 (August 2005): 249-270. Full Text Link to Item
- McConkie-Rosell, A, and Sullivan, JA. "Editorial notes." Journal of Genetic Counseling 13, no. 3 (June 1, 2004): 179-182. Full Text
- McConkie-Rosell, A, and Spiridigliozzi, GA. ""Family matters": a conceptual framework for genetic testing in children." J Genet Couns 13, no. 1 (February 2004): 9-29. Link to Item
- McConkie-Rosell, A, and Sullivan, JA. "Editorial notes." Journal of Genetic Counseling 12, no. 1 (2003): 1-3. Full Text
- McConkie-Rosell, A, Spiridigliozzi, GA, Sullivan, JA, Dawson, DV, and Lachiewicz, AM. "Carrier testing in fragile X syndrome: when to tell and test." Am J Med Genet 110, no. 1 (June 1, 2002): 36-44. Full Text Link to Item
- McConkie-Rosell, A. "Instructions to Contributors." Journal of genetic counseling 11, no. 2 (April 2002): 149-153. Full Text
- McConkie-Rosell, A, and Sullivan, JA. "Journal of Genetic Counseling: Editorial introduction." Journal of Genetic Counseling 11, no. 1 (2002): 1-3. Full Text
- McConkie-Rosell, A, and Sullivan, JA. "Journal of Genetic Counseling: Editorial." Journal of Genetic Counseling 11, no. 4 (2002): 237-239. Full Text
- McConkie-Rosell, A, Spiridigliozzi, GA, Sullivan, JA, Dawson, DV, and Lachiewicz, AM. "Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping." Am J Med Genet 98, no. 1 (January 1, 2001): 37-45. Link to Item
- McConkie-Rosell, A, Spiridigliozzi, GA, Sullivan, JA, Dawson, DV, and Lachiewicz, AM. "Carrier testing in fragile X syndrome: effect on self-concept." Am J Med Genet 92, no. 5 (June 19, 2000): 336-342. Link to Item
- McConkie-Rosell, A, and Devellis, BM. "Threat to parental role: A possible mechanism of altered self-concept related to carrier knowledge." Journal of Genetic Counseling 9, no. 4 (2000): 285-302. Full Text
- McIntosh, N, Gane, LW, McConkie-Rosell, A, and Bennett, RL. "Genetic counseling for fragile X syndrome: Recommendations of the National Society of Genetic Counselors." Journal of Genetic Counseling 9, no. 4 (2000): 303-325. Full Text
- Shen, J, Liu, HM, McConkie-Rosell, A, and Chen, YT. "Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis." Prenat Diagn 19, no. 9 (September 1999): 837-839. Link to Item
- McConkie-Rosell, A, Spiridigliozzi, GA, Rounds, K, Dawson, DV, Sullivan, JA, Burgess, D, and Lachiewicz, AM. "Parental attitudes regarding carrier testing in children at risk for fragile X syndrome." Am J Med Genet 82, no. 3 (January 29, 1999): 206-211. Link to Item
- McConkie-Rosell, A, and Sullivan, JA. "Genetic counseling - Stress, coping, and the empowerment perspective." Journal of Genetic Counseling 8, no. 6 (1999): 345-357.
- Veiga-da-Cunha, M, Gerin, I, Chen, YT, de Barsy, T, de Lonlay, P, Dionisi-Vici, C, Fenske, CD, Lee, PJ, Leonard, JV, Maire, I, McConkie-Rosell, A, Schweitzer, S, Vikkula, M, and Van Schaftingen, E. "A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic." Am J Hum Genet 63, no. 4 (October 1998): 976-983. Full Text Link to Item
- Shen, J, Liu, HM, McConkie-Rosell, A, and Chen, YT. "Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers." Prenat Diagn 18, no. 1 (January 1998): 61-64. Link to Item
- McConkie-Rosell, A, Spiridigliozzi, GA, Iafolla, T, Tarleton, J, and Lachiewicz, AM. "Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers." American Journal of Medical Genetics 68, no. 1 (January 1997): 62-69. Full Text
- Lachiewicz, AM, Spiridigliozzi, GA, McConkie-Rosell, A, Burgess, D, Feng, Y, Warren, ST, and Tarleton, J. "A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene." American Journal of Medical Genetics 64, no. 2 (August 1996): 278-282. Full Text
- McConkie-Rosell, A, Wilson, C, Piccoli, DA, Boyle, J, DeClue, T, Kishnani, P, Shen, JJ, Boney, A, Brown, B, and Chen, YT. "Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease." Journal of Inherited Metabolic Disease 19, no. 1 (January 1996): 51-58. Full Text
- McConkie-Rosell, A, Robinson, H, Wake, S, Staley, LW, Heller, K, and Cronister, A. "Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors." Am J Med Genet 59, no. 4 (December 4, 1995): 426-430. Full Text Link to Item
- Van Hove, JL, Spiridigliozzi, GA, Heinz, R, McConkie-Rosell, A, Iafolla, AK, and Kahler, SG. "Fryns syndrome survivors and neurologic outcome." Am J Med Genet 59, no. 3 (November 20, 1995): 334-340. (Review) Full Text Link to Item
- Kishnani, P, Iafolla, AK, McConkie-Rosell, A, Van Hove, JL, Kanter, RJ, and Kahler, SG. "Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?." Am J Med Genet 59, no. 1 (October 23, 1995): 44-48. Full Text Link to Item
- Lei, KJ, Chen, YT, Chen, H, Wong, LJ, Liu, JL, McConkie-Rosell, A, Van Hove, JL, Ou, HC, Yeh, NJ, and Pan, LY. "Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus." Am J Hum Genet 57, no. 4 (October 1995): 766-771. Link to Item
- Brix, AE, Howerth, EW, McConkie-Rosell, A, Peterson, D, Egnor, D, Wells, MR, and Chen, YT. "Glycogen storage disease type Ia in two littermate Maltese puppies." Veterinary Pathology 32, no. 5 (September 1995): 460-465. Full Text
- McConkie-Rosell, A, Robinson, H, Wake, S, Staley, L, Heller, K, and Cronister, A. "Educating extended family members about the inheritance of the fragile X syndrome." Developmental Brain Dysfunction 8, no. 4-6 (1995): 390-395.
- McConkie-Rosell, A, Lachiewicz, AM, Spiridigliozzi, GA, Tarleton, J, Schoenwald, S, Phelan, MC, Goonewardena, P, Ding, X, and Brown, WT. "Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome." Am J Hum Genet 53, no. 4 (October 1993): 800-809. Link to Item
- Thompson, JN, Huffman, P, McConkie-Rosell, A, and Hessling, J. "Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis." Biochem Mol Biol Int 29, no. 5 (April 1993): 793-797. Link to Item
- McConkie-Rosell, A, and Iafolla, AK. "Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling." Journal of Genetic Counseling 2, no. 1 (1993): 17-27. Full Text
- Van Hove, JL, McConkie-Rosell, A, Chen, YT, Iafolla, AK, Lanman, JT, Hennessy, MD, and Kahler, SG. "Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature." Am J Med Genet 44, no. 1 (September 1, 1992): 24-30. Full Text Link to Item
- Park, HK, Kay, HH, McConkie-Rosell, A, Lanman, J, and Chen, YT. "Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate." Prenat Diagn 12, no. 3 (March 1992): 169-173. Link to Item
- Iafolla, AK, McConkie-Rosell, A, and Chen, YT. "VATER and hydrocephalus: distinct syndrome?." Am J Med Genet 38, no. 1 (January 1991): 46-51. Full Text Link to Item
- Iafolla, AK, and McConkie-Rosell, A. "Prenatal diagnosis of metabolic disease." Clinics in Perinatology 17, no. 4 (December 1990): 761-777. (Review) Full Text
- Yandell, DW, Campbell, TA, Dayton, SH, Petersen, R, Walton, D, Little, JB, McConkie-Rosell, A, Buckley, EG, and Dryja, TP. "Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling." The New England Journal of Medicine 321, no. 25 (December 1989): 1689-1695. Full Text
- McConkie-Rosell, A, Chen, YT, Harris, D, Speer, MC, Pericak-Vance, MA, Ding, JH, Highsmith, WE, Knowles, M, and Kahler, SG. "Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype." Ann Intern Med 111, no. 10 (November 15, 1989): 797-801. Link to Item
- Knowles, MR, Barnett, TB, McConkie-Rosell, A, Sawyer, C, and Kahler, SG. "Mild cystic fibrosis in a consanguineous family." Ann Intern Med 110, no. 8 (April 15, 1989): 599-605. Link to Item
- Brodsky, MC, Buckley, EG, and McConkie-Rosell, A. "The case of the gray optic disc!." Surv Ophthalmol 33, no. 5 (March 1989): 367-372. (Review) Link to Item
- Seizinger, BR, Rouleau, GA, Ozelius, LJ, Lane, AH, Farmer, GE, Lamiell, JM, Haines, J, Yuen, JW, Collins, D, and Majoor-Krakauer, D. "Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma." Nature 332, no. 6161 (March 1988): 268-269. Full Text
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Book Sections
- Wang, Y, Wang, P, Xu, X, Goldstein, J, McConkie, A, Cheung, SW, and Jiang, YH. "Genetics of autism spectrum disorders: The opportunity and challenge in the genetics clinic." In The Molecular Basis of Autism, 33-66. January 1, 2015. Full Text
- O'daniel, J, and McConkie-Rosell, A. "Goals, Process, and Content of Genetic Counseling: Applications to Children and their Families." In Handbook of Genomics and the Family Psychosocial Context for Children and Adolescents, 87-109.: Springer Science & Business Media, August 12, 2010. (Chapter)
- McConkie-Rosell, A, and Sullivan, J. "Helping parents talk to their children about genetic diagnosis." In Family Communication about Genetics Theory and Practice, edited by Gaff, C and Bylund, C, 227-243.: Oxford University Press, USA, 2010. (Chapter)
- McConkie-Rosell, A, and O'Daniel, J. "Beyond the diagnosis: The process of genetic counseling." In Neurogenetic Developmental Disorders Variation of Manifestation in Childhood, edited by Mazzocco, M and Ross, J, 367-391.: MIT Press, 2007. (Chapter)
- McConkie-Rosell, A, and O'Daniel, J. "Beyond the diagnosis: The process of genetic counseling." In Neurogenetic Developmental Disorders Variation of Manifestation in Childhood, edited by Mazzocco, M and Ross, J, 367-391.: MIT Press, 2007. (Chapter)
- O'Daniel, J, and McConkie-Rosell, A. "Test Results: Communication and Counseling." In Genetic Testing Care, Consent and Liability, edited by Sharpe, NF and Carter, RF, 355-380.: John Wiley & Sons, January 20, 2006. (Chapter)
- O'Daniel, J, and McConkie-Rosell, A. "Test Results: Communication and Counseling." In Genetic Testing Care, Consent and Liability, edited by Sharpe, NF and Carter, RF, 355-380.: John Wiley & Sons, January 20, 2006. (Chapter)
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Conference Papers
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- Scholarly, Clinical, & Service Activities
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Clinical Activities
- Genetic counselor, General Medical Genetic clinic and Fragile X Clinic.
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