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 2021
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 - Chapel Hill 1999
- 1980, University of Arkansas, Little Rock - 1980
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Previous Appointments & Affiliations
- Professor in Pediatrics, Pediatrics, Medical Genetics, Pediatrics 2017 - 2020
- 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 - 2023
- 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
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Tummala, Hemanth, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, et al. “Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.” Am J Hum Genet 109, no. 8 (August 4, 2022): 1472–83. https://doi.org/10.1016/j.ajhg.2022.06.014.Full Text Link to Item
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McConkie-Rosell, Allyn, Kelly Schoch, Jennifer Sullivan, Rebecca C. Spillmann, Heidi Cope, Queenie K-G Tan, Christina G. S. Palmer, Christina G. S. Undiagnosed Disease Network, Stephen R. Hooper, and Vandana Shashi. “Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.” J Genet Couns 31, no. 1 (February 2022): 59–70. https://doi.org/10.1002/jgc4.1451.Full Text Link to Item
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Zhang, Chaofan, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, et al. “Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.” Hgg Adv 3, no. 1 (January 13, 2022): 100074. https://doi.org/10.1016/j.xhgg.2021.100074.Full Text Link to Item
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Ferdinandusse, Sacha, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, et al. “Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.” Genet Med 23, no. 12 (December 2021): 2467. https://doi.org/10.1038/s41436-021-01189-8.Full Text Link to Item
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Brokamp, Elly, Mary E. Koziura, John A. Phillips, Leigh Anne Tang, Joy D. Cogan, Lynette C. Rives, Amy K. Robertson, et al. “One is the loneliest number: genotypic matchmaking using the electronic health record.” Genet Med 23, no. 10 (October 2021): 1830–32. https://doi.org/10.1038/s41436-021-01179-w.Full Text Link to Item
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Rodan, Lance H., Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, et al. “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.” Genet Med 23, no. 10 (October 2021): 1922–32. https://doi.org/10.1038/s41436-021-01232-8.Full Text Link to Item
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Rodan, Lance H., Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, et al. “Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.” Genet Med 23, no. 10 (October 2021): 2016. https://doi.org/10.1038/s41436-021-01306-7.Full Text Link to Item
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Bai, Renkui, Hong Cui, Joseph M. Devaney, Katrina M. Allis, Amanda M. Balog, Xinyue Liu, Rhonda E. Schnur, et al. “Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.” Genet Med 23, no. 8 (August 2021): 1514–21. https://doi.org/10.1038/s41436-021-01166-1.Full Text Link to Item
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Walsh, Matthew B., Krista Charen, Lisa Shubeck, Allyn McConkie-Rosell, Nadia Ali, Cecelia Bellcross, and Stephanie L. Sherman. “Men with an FMR1 premutation and their health education needs.” J Genet Couns 30, no. 4 (August 2021): 1156–67. https://doi.org/10.1002/jgc4.1399.Full Text Link to Item
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Cousin, Margot A., Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, et al. “Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.” Nat Genet 53, no. 7 (July 2021): 1006–21. https://doi.org/10.1038/s41588-021-00886-z.Full Text Link to Item
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Moss, Tonya, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, and Richard Steet. “Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.” Cold Spring Harb Mol Case Stud 7, no. 3 (June 2021). https://doi.org/10.1101/mcs.a006081.Full Text Link to Item
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Kyle, Jennifer E., Kelly G. Stratton, Erika M. Zink, Young-Mo Kim, Kent J. Bloodsworth, Matthew E. Monroe, Matthew E. Undiagnosed Diseases Network, et al. “A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.” Sci Data 8, no. 1 (April 21, 2021): 114. https://doi.org/10.1038/s41597-021-00894-y.Full Text Link to Item
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Ferdinandusse, Sacha, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, et al. “An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.” Genet Med 23, no. 4 (April 2021): 740–50. https://doi.org/10.1038/s41436-020-01027-3.Full Text Link to Item
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Schoch, Kelly, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope, Allyn McConkie-Rosell, Nicole Walley, et al. “Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.” Genet Med 23, no. 2 (February 2021): 259–71. https://doi.org/10.1038/s41436-020-00984-z.Full Text Link to Item
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Lessel, Davor, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, et al. “Germline AGO2 mutations impair RNA interference and human neurological development.” Nat Commun 11, no. 1 (November 16, 2020): 5797. https://doi.org/10.1038/s41467-020-19572-5.Full Text Link to Item
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Schoch, Kelly, Queenie K-G Tan, Nicholas Stong, Kristen L. Deak, Allyn McConkie-Rosell, Marie T. McDonald, Marie T. Undiagnosed Diseases Network, David B. Goldstein, Yong-Hui Jiang, and Vandana Shashi. “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.” Genet Med 22, no. 7 (July 2020): 1269–75. https://doi.org/10.1038/s41436-020-0781-x.Full Text Link to Item
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Tolchin, Dara, Jessica P. Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A. Martinez-Agosto, Abdul Haseeb, et al. “De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.” Am J Hum Genet 106, no. 6 (June 4, 2020): 830–45. https://doi.org/10.1016/j.ajhg.2020.04.015.Full Text Link to Item
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Tran, Linh, Jason Richards, Marie McDonald, Allyn McConkie-Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, and Mohamad A. Mikati. “Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.” Epileptic Disord 22, no. 1 (February 1, 2020): 103–9. https://doi.org/10.1684/epd.2020.1127.Full Text Link to Item
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McConkie-Rosell, Allyn, Kelly Schoch, Jennifer Sullivan, Heidi Cope, Rebecca Spillmann, Christina G. S. Palmer, Loren Pena, et al. “The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.” Clin Genet 96, no. 6 (December 2019): 521–31. https://doi.org/10.1111/cge.13635.Full Text Link to Item
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Accogli, Andrea, Sara Calabretta, Judith St-Onge, Nassima Boudrahem-Addour, Alexandre Dionne-Laporte, Pascal Joset, Silvia Azzarello-Burri, et al. “De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.” Am J Hum Genet 105, no. 4 (October 3, 2019): 854–68. https://doi.org/10.1016/j.ajhg.2019.09.005.Full Text Link to Item
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Burkardt, Deepika D’Cunha, Anna Zachariou, Chey Loveday, Clare L. Allen, David J. Amor, Anna Ardissone, Siddharth Banka, et al. “HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.” Am J Med Genet A 179, no. 10 (October 2019): 2049–55. https://doi.org/10.1002/ajmg.a.61321.Full Text Link to Item
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Macnamara, Ellen F., Kelly Schoch, Emily G. Kelley, Elizabeth Fieg, Elly Brokamp, Elly Undiagnosed Diseases Network, Rebecca Signer, Kimberly LeBlanc, Allyn McConkie-Rosell, and Christina G. S. Palmer. “Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.” J Genet Couns 28, no. 2 (April 2019): 194–201. https://doi.org/10.1002/jgc4.1091.Full Text Link to Item
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Resta, Robert G., Jennifer Sullivan, and Allyn McConkie-Rosell. “INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.” J Genet Couns 28, no. 2 (April 2019): 181. https://doi.org/10.1002/jgc4.1113.Full Text Link to Item
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Shashi, Vandana, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Nicole Walley, Loren Pena, et al. “A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.” Genet Med 21, no. 1 (January 2019): 161–72. https://doi.org/10.1038/s41436-018-0044-2.Full Text Link to Item
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Slone, Jesse, Yanyan Peng, Adam Chamberlin, Belinda Harris, Julie Kaylor, Marie T. McDonald, Monica Lemmon, et al. “Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.” J Hum Genet 63, no. 12 (December 2018): 1211–22. https://doi.org/10.1038/s10038-018-0515-y.Full Text Link to Item
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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 3 (September 6, 2018): 456. https://doi.org/10.1016/j.ajhg.2018.08.010.Full Text Link to Item
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Palmer, Christina G. S., Allyn McConkie-Rosell, Ingrid A. Holm, Kimberly LeBlanc, Janet S. Sinsheimer, Lauren C. Briere, Naghmeh Dorrani, et al. “Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.” J Genet Couns 27, no. 5 (September 2018): 1087–1101. https://doi.org/10.1007/s10897-018-0228-6.Full Text Link to Item
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Walley, Nicole M., Loren D. M. Pena, Stephen R. Hooper, Heidi Cope, Yong-Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, et al. “Characteristics of undiagnosed diseases network applicants: implications for referring providers.” Bmc Health Serv Res 18, no. 1 (August 22, 2018): 652. https://doi.org/10.1186/s12913-018-3458-2.Full Text Link to Item
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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.Full Text Link to Item
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McConkie-Rosell, Allyn, Stephen R. Hooper, Loren D. M. Pena, Kelly Schoch, Rebecca C. Spillmann, Yong-Hui Jiang, Heidi Cope, Heidi Undiagnosed Diseases Network, Christina Palmer, and Vandana Shashi. “Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?” J Genet Couns 27, no. 4 (August 2018): 935–46. https://doi.org/10.1007/s10897-017-0193-5.Full Text Link to Item
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Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.Full Text Link to Item
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Duffney, Lara J., Purnima Valdez, Martine W. Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, and Yong-Hui Jiang. “Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.” Am J Med Genet B Neuropsychiatr Genet 177, no. 4 (June 2018): 426–33. https://doi.org/10.1002/ajmg.b.32631.Full Text Link to Item
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Pena, Loren D. M., Yong-Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, et al. “Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.” Genet Med 20, no. 4 (April 2018): 464–69. https://doi.org/10.1038/gim.2017.128.Full Text Open Access Copy Link to Item
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Oláhová, Monika, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M. Davidson, Jennifer E. Kyle, et al. “Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.” Am J Hum Genet 102, no. 3 (March 1, 2018): 494–504. https://doi.org/10.1016/j.ajhg.2018.01.020.Full Text Link to Item
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Tan, Queenie K-G, Allyn McConkie-Rosell, Jane Juusola, Kathryn E. Gustafson, Carolyn E. Pizoli, Anne F. Buckley, and Yong-Hui Jiang. “The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.” Cold Spring Harb Mol Case Stud 3, no. 6 (November 2017). https://doi.org/10.1101/mcs.a002063.Full Text Link to Item
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Wangler, Michael F., Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, John Members of the Undiagnosed Diseases Network (UDN), et al. “Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.” Genetics 207, no. 1 (September 2017): 9–27. https://doi.org/10.1534/genetics.117.203067.Full Text Link to Item
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Stern, D., M. T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, et al. “Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.” Clin Genet 92, no. 2 (August 2017): 221–23. https://doi.org/10.1111/cge.12956.Full Text Link to Item
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Wang, Julia, Rami Al-Ouran, Yanhui Hu, Seon-Young Kim, Ying-Wooi Wan, Michael F. Wangler, Shinya Yamamoto, et al. “MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.” Am J Hum Genet 100, no. 6 (June 1, 2017): 843–53. https://doi.org/10.1016/j.ajhg.2017.04.010.Full Text Link to Item
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Spillmann, Rebecca C., Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Yong-Hui Undiagnosed Diseases Network, Kelly Schoch, Nicole Walley, et al. “A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.” Orphanet J Rare Dis 12, no. 1 (April 17, 2017): 71. https://doi.org/10.1186/s13023-017-0623-3.Full Text Link to Item
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Schoch, Kelly, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, et al. “A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.” Am J Hum Genet 100, no. 2 (February 2, 2017): 343–51. https://doi.org/10.1016/j.ajhg.2016.12.013.Full Text Link to Item
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Chao, Hsiao-Tuan, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, et al. “A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.” Am J Hum Genet 100, no. 1 (January 5, 2017): 128–37. https://doi.org/10.1016/j.ajhg.2016.11.018.Full Text Link to Item
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Shashi, Vandana, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, et al. “De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.” Am J Hum Genet 99, no. 4 (October 6, 2016): 991–99. https://doi.org/10.1016/j.ajhg.2016.08.017.Full Text Link to Item
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Rosell, Allyn McConkie, Loren D. M. Pena, Kelly Schoch, Rebecca Spillmann, Jennifer Sullivan, Stephen R. Hooper, Yong-Hui Jiang, Nicolas Mathey-Andrews, David B. Goldstein, and Vandana Shashi. “Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.” J Genet Couns 25, no. 5 (October 2016): 1019–31. https://doi.org/10.1007/s10897-016-9933-1.Full Text Link to Item
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Shashi, V., A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y. H. Jiang, D. B. Goldstein, and M. T. McDonald. “Practical considerations in the clinical application of whole-exome sequencing.” Clin Genet 89, no. 2 (February 2016): 173–81. https://doi.org/10.1111/cge.12569.Full Text Link to Item
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Tanaka, Akemi J., Megan T. Cho, Kyle Retterer, Julie R. Jones, Catherine Nowak, Jessica Douglas, Yong-Hui Jiang, et al. “De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.” Cold Spring Harb Mol Case Stud 2, no. 1 (January 2016): a000661. https://doi.org/10.1101/mcs.a000661.Full Text Open Access Copy Link to Item
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Shashi, V., W. Harrell, S. Eack, C. Sanders, A. McConkie-Rosell, M. S. Keshavan, M. J. Bonner, K. Schoch, and S. R. Hooper. “Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.” J Intellect Disabil Res 59, no. 10 (October 2015): 902–13. https://doi.org/10.1111/jir.12192.Full Text Link to Item
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Shashi, Vandana, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, and David B. Goldstein. “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): 176–82. https://doi.org/10.1038/gim.2013.99.Full Text Link to Item
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Sen, Partha, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, 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): 801–11. https://doi.org/10.1002/humu.22313.Full Text Link to Item
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Abrams, Liane, Amy Cronister, William T. Brown, Flora Tassone, Stephanie L. Sherman, Brenda Finucane, Allyn McConkie-Rosell, et al. “Newborn, carrier, and early childhood screening recommendations for fragile X.” Pediatrics 130, no. 6 (December 2012): 1126–35. https://doi.org/10.1542/peds.2012-0693.Full Text Link to Item
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Finucane, B., L. Abrams, A. Cronister, A. D. Archibald, R. L. Bennett, and A. McConkie-Rosell. “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. https://doi.org/10.1007/s10897-012-9542-6.Full Text
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Finucane, Brenda, Liane Abrams, Amy Cronister, Alison D. Archibald, Robin L. Bennett, and Allyn McConkie-Rosell. “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): 752–60. https://doi.org/10.1007/s10897-012-9524-8.Full Text Link to Item
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Eunpu, Deborah, Robert Resta, Allyn McConkie-Rosell, and Bonnie S. Leroy. “Celebrating the 20th anniversary of the Journal of Genetic Counseling.” J Genet Couns 21, no. 1 (February 2012): 1–2. https://doi.org/10.1007/s10897-011-9469-3.Full Text Link to Item
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McConkie-Rosell, Allyn, Elizabeth Melvin Heise, and Gail A. Spiridigliozzi. “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. https://doi.org/10.1007/s10897-011-9391-8.Full Text Link to Item
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McConkie-Rosell, Allyn, Jacqueline Del Giorno, and Elizabeth Melvin Heise. “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. https://doi.org/10.1007/s10897-010-9326-9.Full Text Link to Item
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Shashi, Vandana, Matcheri Keshavan, Jessica Kaczorowski, Kelly Schoch, Kathryn E. Lewandowski, Allyn McConkie-Rosell, Stephen R. Hooper, and Thomas R. Kwapil. “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): 535–44. https://doi.org/10.1007/s10897-010-9309-x.Full Text Link to Item
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Lachiewicz, Ave, D. Dawson, G. Spiridigliozzi, M. Cuccaro, M. Lachiewicz, and A. McConkie-Rosell. “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. https://doi.org/10.1111/j.1365-2788.2010.01290.x.Full Text Link to Item
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McConkie-Rosell, Allyn, Elizabeth Melvin Heise, and Gail A. Spiridigliozzi. “Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.” J Genet Couns 18, no. 4 (August 2009): 313–25. https://doi.org/10.1007/s10897-009-9215-2.Full Text Link to Item
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Wehbe, Ramsey M., Gail A. Spiridigliozzi, Elizabeth M. Heise, Deborah V. Dawson, and Allyn McConkie-Rosell. “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): 1190–99. https://doi.org/10.1002/ajmg.a.32840.Full Text Link to Item
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McConkie-Rosell, Allyn, Gail A. Spiridigliozzi, Elizabeth Melvin, Deborah V. Dawson, and Ave M. Lachiewicz. “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. https://doi.org/10.1002/ajmg.c.30161.Full Text Link to Item
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McConkie-Rosell, A., and J. A. Sullivan Saarela. “Editorial: The JOGC journey continues.” Journal of Genetic Counseling 17, no. 1 (February 1, 2008): 1. https://doi.org/10.1007/s10897-007-9137-9.Full Text
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McConkie-Rosell, Allyn, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, et al. “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. https://doi.org/10.1007/s10897-007-9099-y.Full Text Link to Item
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Wittenberger, Michael D., Randi J. Hagerman, Stephanie L. Sherman, Allyn McConkie-Rosell, Corrine K. Welt, Robert W. Rebar, Emily C. Corrigan, Joe Leigh Simpson, and Lawrence M. Nelson. “The FMR1 premutation and reproduction.” Fertil Steril 87, no. 3 (March 2007): 456–65. https://doi.org/10.1016/j.fertnstert.2006.09.004.Full Text Link to Item
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Lachiewicz, Ave M., Deborah V. Dawson, Gail A. Spiridigliozzi, and Allyn McConkie-Rosell. “Arithmetic difficulties in females with the fragile X premutation.” Am J Med Genet A 140, no. 7 (April 1, 2006): 665–72. https://doi.org/10.1002/ajmg.a.31082.Full Text Link to Item
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O’Daniel, J. M., A. McConkie-Rosell, and P. T. Kelly. “Test Results: Communication and Counseling,” January 4, 2006, 355–97. https://doi.org/10.1002/0471748897.ch14.Full Text
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McConkie-Rosell, Allyn, Brenda Finucane, Amy Cronister, Liane Abrams, Robin L. Bennett, and Barbara J. Pettersen. “Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.” J Genet Couns 14, no. 4 (August 2005): 249–70. https://doi.org/10.1007/s10897-005-4802-x.Full Text Link to Item
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McConkie-Rosell, A., and J. A. Sullivan. “Editorial notes.” Journal of Genetic Counseling 13, no. 3 (June 1, 2004): 179–82. https://doi.org/10.1023/B:JOGC.0000028251.02528.9c.Full Text
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McConkie-Rosell, Allyn, and Gail A. Spiridigliozzi. “"Family matters": a conceptual framework for genetic testing in children.” J Genet Couns 13, no. 1 (February 2004): 9–29. https://doi.org/10.1023/b:jogc.0000013379.90587.ef.Full Text Link to Item
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McConkie-Rosell, Allyn, and Jennifer A. Sullivan. “Editorial Notes.” J Genet Couns 12, no. 1 (February 2003): 1–3. https://doi.org/10.1023/A:1021404732760.Full Text Link to Item
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McConkie-Rosell, Allyn, and Jennifer A. Sullivan. “Editorial.” J Genet Couns 11, no. 4 (August 2002): 237–39. https://doi.org/10.1023/A:1016322430535.Full Text Link to Item
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McConkie-Rosell, Allyn, Gail A. Spiridigliozzi, Jennifer A. Sullivan, Deborah V. Dawson, and Ave M. Lachiewicz. “Carrier testing in fragile X syndrome: when to tell and test.” Am J Med Genet 110, no. 1 (June 1, 2002): 36–44. https://doi.org/10.1002/ajmg.10396.Full Text Link to Item
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McConkie-Rosell, Allyn. “Instructions to Contributors.” J Genet Couns 11, no. 2 (April 2002): 149–53. https://doi.org/10.1023/A:1014549622661.Full Text Link to Item
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McConkie-Rosell, Allyn, and Jennifer A. Sullivan. “Editorial Introduction.” J Genet Couns 11, no. 1 (February 2002): 1–3. https://doi.org/10.1023/A:1013889613786.Full Text Link to Item
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McConkie-Rosell, A., G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz. “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
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McConkie-Rosell, A., and B. M. DeVellis. “Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge.” J Genet Couns 9, no. 4 (August 2000): 285–302. https://doi.org/10.1023/A:1009428328837.Full Text Link to Item
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McIntosh, N., L. W. Gane, A. McConkie-Rosell, and R. L. Bennett. “Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.” J Genet Couns 9, no. 4 (August 2000): 303–25. https://doi.org/10.1023/A:1009454112907.Full Text Link to Item
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McConkie-Rosell, A., G. A. Spiridigliozzi, J. A. Sullivan, D. V. Dawson, and A. M. Lachiewicz. “Carrier testing in fragile X syndrome: effect on self-concept.” Am J Med Genet 92, no. 5 (June 19, 2000): 336–42. https://doi.org/10.1002/1096-8628(20000619)92:5<336::aid-ajmg8>3.0.co;2-l.Full Text Link to Item
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McConkie-Rosell, A., and J. A. Sullivan. “Genetic Counseling-Stress, Coping, and the Empowerment Perspective.” J Genet Couns 8, no. 6 (December 1999): 345–57. https://doi.org/10.1023/A:1022919325772.Full Text Link to Item
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Shen, J., H. M. Liu, A. McConkie-Rosell, and Y. T. Chen. “Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.” Prenat Diagn 19, no. 9 (September 1999): 837–39. https://doi.org/10.1002/(sici)1097-0223(199909)19:9<837::aid-pd652>3.0.co;2-g.Full Text Link to Item
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McConkie-Rosell, A., G. A. Spiridigliozzi, K. Rounds, D. V. Dawson, J. A. Sullivan, D. Burgess, and A. M. Lachiewicz. “Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.” Am J Med Genet 82, no. 3 (January 29, 1999): 206–11.Link to Item
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Veiga-da-Cunha, M., I. Gerin, Y. T. Chen, T. de Barsy, P. de Lonlay, C. Dionisi-Vici, C. D. Fenske, et al. “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): 976–83. https://doi.org/10.1086/302068.Full Text Link to Item
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Shen, J., H. M. Liu, A. McConkie-Rosell, and Y. T. Chen. “Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.” Prenat Diagn 18, no. 1 (January 1998): 61–64. https://doi.org/10.1002/(sici)1097-0223(199801)18:1<61::aid-pd223>3.0.co;2-i.Full Text Link to Item
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McConkie-Rosell, A., G. A. Spiridigliozzi, T. Iafolla, J. Tarleton, and A. M. Lachiewicz. “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. https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<62::aid-ajmg12>3.0.co;2-m.Full Text Link to Item
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Lachiewicz, A. M., G. A. Spiridigliozzi, A. McConkie-Rosell, D. Burgess, Y. Feng, S. T. Warren, and J. Tarleton. “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): 278–82. https://doi.org/10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q.Full Text Link to Item
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McConkie-Rosell, A., C. Wilson, D. A. Piccoli, J. Boyle, T. DeClue, P. Kishnani, J. J. Shen, A. Boney, B. Brown, and Y. T. Chen. “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. https://doi.org/10.1007/BF01799348.Full Text Link to Item
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McConkie-Rosell, A., H. Robinson, S. Wake, L. W. Staley, K. Heller, and A. Cronister. “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): 426–30. https://doi.org/10.1002/ajmg.1320590406.Full Text Link to Item
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Van Hove, J. L., G. A. Spiridigliozzi, R. Heinz, A. McConkie-Rosell, A. K. Iafolla, and S. G. Kahler. “Fryns syndrome survivors and neurologic outcome.” Am J Med Genet 59, no. 3 (November 20, 1995): 334–40. https://doi.org/10.1002/ajmg.1320590311.Full Text Link to Item
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Kishnani, P., A. K. Iafolla, A. McConkie-Rosell, J. L. Van Hove, R. J. Kanter, and S. G. Kahler. “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. https://doi.org/10.1002/ajmg.1320590110.Full Text Link to Item
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Lei, K. J., Y. T. Chen, H. Chen, L. J. Wong, J. L. Liu, A. McConkie-Rosell, J. L. Van Hove, H. C. Ou, N. J. Yeh, and L. Y. Pan. “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): 766–71.Link to Item
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Brix, A. E., E. W. Howerth, A. McConkie-Rosell, D. Peterson, D. Egnor, M. R. Wells, and Y. T. Chen. “Glycogen storage disease type Ia in two littermate Maltese puppies.” Vet Pathol 32, no. 5 (September 1995): 460–65. https://doi.org/10.1177/030098589503200502.Full Text Link to Item
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McConkie-Rosell, A., H. Robinson, S. Wake, L. Staley, K. Heller, and A. Cronister. “Educating extended family members about the inheritance of the fragile X syndrome.” Developmental Brain Dysfunction 8, no. 4–6 (1995): 390–95.
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McConkie-Rosell, A., A. M. Lachiewicz, G. A. Spiridigliozzi, J. Tarleton, S. Schoenwald, M. C. Phelan, P. Goonewardena, X. Ding, and W. T. Brown. “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
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Thompson, J. N., P. Huffman, A. McConkie-Rosell, and J. Hessling. “Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.” Biochem Mol Biol Int 29, no. 5 (April 1993): 793–97.Link to Item
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McConkie-Rosell, A., and A. K. Iafolla. “Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.” J Genet Couns 2, no. 1 (March 1993): 17–27. https://doi.org/10.1007/BF00962557.Full Text Link to Item
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Van Hove, J. L., A. McConkie-Rosell, Y. T. Chen, A. K. Iafolla, J. T. Lanman, M. D. Hennessy, and S. G. Kahler. “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. https://doi.org/10.1002/ajmg.1320440107.Full Text Link to Item
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Park, H. K., H. H. Kay, A. McConkie-Rosell, J. Lanman, and Y. T. Chen. “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): 169–73. https://doi.org/10.1002/pd.1970120305.Full Text Link to Item
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Iafolla, A. K., A. McConkie-Rosell, and Y. T. Chen. “VATER and hydrocephalus: distinct syndrome?” Am J Med Genet 38, no. 1 (January 1991): 46–51. https://doi.org/10.1002/ajmg.1320380112.Full Text Link to Item
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Iafolla, A. K., and A. McConkie-Rosell. “Prenatal diagnosis of metabolic disease.” Clin Perinatol 17, no. 4 (December 1990): 761–77.Link to Item
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Yandell, D. W., T. A. Campbell, S. H. Dayton, R. Petersen, D. Walton, J. B. Little, A. McConkie-Rosell, E. G. Buckley, and T. P. Dryja. “Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.” N Engl J Med 321, no. 25 (December 21, 1989): 1689–95. https://doi.org/10.1056/NEJM198912213212501.Full Text Link to Item
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McConkie-Rosell, A., Y. T. Chen, D. Harris, M. C. Speer, M. A. Pericak-Vance, J. H. Ding, W. E. Highsmith, M. Knowles, and S. G. Kahler. “Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.” Ann Intern Med 111, no. 10 (November 15, 1989): 797–801. https://doi.org/10.7326/0003-4819-111-10-797.Full Text Link to Item
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Knowles, M. R., T. B. Barnett, A. McConkie-Rosell, C. Sawyer, and S. G. Kahler. “Mild cystic fibrosis in a consanguineous family.” Ann Intern Med 110, no. 8 (April 15, 1989): 599–605. https://doi.org/10.7326/0003-4819-110-8-599.Full Text Link to Item
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Brodsky, M. C., E. G. Buckley, and A. McConkie-Rosell. “The case of the gray optic disc!.” Surv Ophthalmol 33, no. 5 (1989): 367–72. https://doi.org/10.1016/0039-6257(89)90013-1.Full Text Link to Item
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Seizinger, B. R., G. A. Rouleau, L. J. Ozelius, A. H. Lane, G. E. Farmer, J. M. Lamiell, J. Haines, J. W. Yuen, D. Collins, and D. Majoor-Krakauer. “Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.” Nature 332, no. 6161 (March 17, 1988): 268–69. https://doi.org/10.1038/332268a0.Full Text Link to Item
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Book Sections
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Wang, Y., P. Wang, X. Xu, J. Goldstein, A. McConkie, S. W. Cheung, and Y. H. Jiang. “Genetics of autism spectrum disorders: The opportunity and challenge in the genetics clinic.” In The Molecular Basis of Autism, 33–66, 2015. https://doi.org/10.1007/978-1-4939-2190-4_4.Full Text
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O’daniel, Julianne, and Allyn McConkie-Rosell. “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, 2010.
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McConkie-Rosell, A., and Jennifer Sullivan. “Helping parents talk to their children about genetic diagnosis.” In Family Communication about Genetics Theory and Practice, edited by Clara Gaff and Carma Bylund, 227–43. Oxford University Press, USA, 2010.
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McConkie-Rosell, Allyn, and Julianne O’Daniel. “Beyond the diagnosis: The process of genetic counseling.” In Neurogenetic Developmental Disorders Variation of Manifestation in Childhood, edited by Michele Mazzocco and Judith Ross, 367–91. MIT Press, 2007.
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McConkie-Rosell, Allyn, and Julianne O’Daniel. “Beyond the diagnosis: The process of genetic counseling.” In Neurogenetic Developmental Disorders Variation of Manifestation in Childhood, edited by Michele Mazzocco and Judith Ross, 367–91. MIT Press, 2007.
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O’Daniel, Julianne, and Allyn McConkie-Rosell. “Test Results: Communication and Counseling.” In Genetic Testing Care, Consent and Liability, edited by Neil F. Sharpe and Ronald F. Carter, 355–80. John Wiley & Sons, 2006.
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O’Daniel, Julianne, and Allyn McConkie-Rosell. “Test Results: Communication and Counseling.” In Genetic Testing Care, Consent and Liability, edited by Neil F. Sharpe and Ronald F. Carter, 355–80. John Wiley & Sons, 2006.
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Conference Papers
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Burkardt, D. D., K. Tatton-Brown, D. Amor, M. G. Au, A. McConkie-Rosell, M. McDonald, and J. M. Graham. “PHENOTYPIC CHARACTERIZATION AND MANAGEMENT OF PATIENTS WITH RECURRENT MUTATION OF HIST1H1E: A SERIES OF 3 NEW CASES AND A REVIEW OF THE LITERATURE.” In American Journal of Medical Genetics Part A, 179:741–741. WILEY, 2019.Link to Item
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Richards, Jason, Marie McDonald, Allyn McConkie-Rosell, Vandana Shashi, and Mohamad Mikati. “Novel Phenotype of ATP1A3 Mutation Starting in Infancy.” In Neurology, Vol. 90. LIPPINCOTT WILLIAMS & WILKINS, 2018.Link to Item
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Cronister, A., L. Abrams, A. Mcconkie-Rosell, L. Gane, B. Finucane, and R. J. Hagerman. “O-46.” In Fertility and Sterility, 86:S20–S20. Elsevier BV, 2006. https://doi.org/10.1016/j.fertnstert.2006.07.056.Full Text
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Elizondo, J., M. J. Raygada, A. Mcconkie-Rosell, V. H. Vanderhoof, K. A. Calis, and L. M. Nelson. “O-110.” In Fertility and Sterility, 86:S47–S47. Elsevier BV, 2006. https://doi.org/10.1016/j.fertnstert.2006.07.128.Full Text
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- Scholarly, Clinical, & Service Activities
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Clinical Activities
- Genetic counselor, General Medical Genetic clinic
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