Allyn McConkie-Rosell | Scholars@Duke

Allyn McConkie-Rosell
Professor in Pediatrics

Genetic risk communication in childhood, Genetic Testing in Children, Fragile X Syndrome, and Genetic Counseling
One of the major objectives of genetic counseling is to facilitate adaptive coping through interventions designed to provide families with the knowledge, skills, and resilient self-beliefs required to cope, adjust, and affect control over their lives. How to accomplish these objectives when the focus is on children is not as clear. Additionally, just as children grow and change so does the meaning and utilization of the genetic information for both the child and the family. Although there has been some exploration of preferences of when to inform about genetic risk and to offer carrier testing there is limited information on how information is communicated to children within a family. There is also very limited information on what adolescents and young people think about being informed and manner in which they were informed about genetic risk. The concern for children related to genetic risk should not focus solely on if genetic testing should be offered to children, but should also include the effect of genetic risk knowledge itself on children and their perceptions of their family. Because communication patterns from childhood may persist into adulthood and may affect coping and adjustment it is imperative that strategies are developed to aid in the communication of genetic risk information to children. In order to develop effective communication patterns it is important to explore children’s experiences of genetic risk information. The focus of our research is exploring the effect of genetic risk information on children from families with fragile X syndrome.

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
allyn.mcconkie@duke.edu (919) 681-1949

Background
Education, Training, & Certifications
- Ph.D., University of North Carolina at Chapel Hill 1999
- 1980, University of Arkansas at Little Rock - 1980
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
Selected Grants
- An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2018
- 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
Selected Publications
- 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
- Conference Papers
  - Cronister, A, Abrams, L, Mcconkie-Rosell, A, Gane, L, Finucane, B, and Hagerman, RJ. "Fragile X cascade testing and genetic counseling guidelines for patients seen in the infertility setting: A Center for Disease Control and Prevention, MIND Institute and National Fragile X Foundation focused advisory group summary." September 2006. Full Text Link to Item
  - Elizondo, J, Raygada, MJ, Mcconkie-Rosell, A, Vanderhoof, VH, Calis, KA, and Nelson, LM. "Genetic testing for the fMR1 premutation in young women with spontaneous premature ovarian failure." September 2006. Full Text Link to Item
- Journal Articles
  - 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, YM, Heyman, HM, Stratton, KG, Webb-Robertson, BJM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, and Brown, DM et al. "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder." American Journal of Human Genetics 102, no. 3 (March 1, 2018): 494-504. 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 (January 2, 2018). 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 2017). 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 (September 14, 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-. 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 et al. "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. 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, and Yang, Y et al. "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 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." J Genet Couns 21, no. 6 (December 2012): 752-760. Full Text Link to Item
  - 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. "Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors." Journal of Genetic Counseling (2012): 1--. 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 (2012): 752-760. 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 (2012): 985--. 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." Am J Med Genet C Semin Med Genet 148C, no. 1 (February 15, 2008): 56-69. Full Text Link to Item
  - McConkie-Rosell, A, and Saarela, JAS. "Editorial: The JOGC journey continues." Journal of Genetic Counseling 17, no. 1 (2008): 1--. 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." Fertil Steril 87, no. 3 (March 2007): 456-465. (Review) Full Text Link to Item
  - 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
  - O'Daniel, JM, McConkie-Rosell, A, and 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 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 13, no. 3 (2004): 179-182. Full Text
  - 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." Am J Med Genet 68, no. 1 (January 10, 1997): 62-69. Link to Item
  - 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." Am J Med Genet 64, no. 2 (August 9, 1996): 278-282. Full Text Link to Item
  - 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." J Inherit Metab Dis 19, no. 1 (1996): 51-58. Link to Item
  - 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." Vet Pathol 32, no. 5 (September 1995): 460-465. Full Text Link to Item
  - 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." Clin Perinatol 17, no. 4 (December 1990): 761-777. (Review) Link to Item
  - 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." N Engl J Med 321, no. 25 (December 21, 1989): 1689-1695. Full Text Link to Item
  - 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, JWM, Collins, D, Majoor-Krakauer, D, Bonner, T, Mathew, C, Rubenstein, A, Halperin, J, McConkie-Rosell, A, Green, JS, Trofatter, JA, Ponder, BA, Eierman, L, and Bowmer, MI. "Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma." Nature 332, no. 6161 (1988): 268-269.

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