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Last Updated July 2020Refereed Papers/Articles:Moultrie RR, Paquin R, Rini C, Roche MI, Berg JS, Powell CM, Lewis MA. Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support. Matern Child Health J. 2020 Jul;24(7):856-864. PMID: 32424581Dasgupta S, Feldman GL, Powell CM, Toriello HV, Westman J, Wilson WG, Waggoner DJ. Training the next generation of genomic medicine providers: trends in medical education and national assessment. Genet Med. 2020 Jun 18. Online ahead of print. PMID: 32555416 Wagner M, Skorobogatko Y, Pode-Shakked B, Powell CM, Alhaddad B, Seibt A, Barel O, Heimer G, Hoffmann C, Demmer LA, Perilla-Young Y, Remke M, Wieczorek D, Navaratnarajah T, Lichtner P, Klee D, Shamseldin HE, Al Mutairi F, Mayatepek E, Strom T, Meitinger T, Alkuraya FS, Anikster Y, Saltiel AR, Distelmaier F. Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, iInfantile spasms, and feeding abnormalities. Am J Hum Genet. 2020 Feb 6; 106(2):246-255. PMID: 32004447. Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey D, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman S, Powell CM, Taylor JL: Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. PMID: 32003821. Vora NL, Gilmore K, Brandt A, Gustafson C, Strande N, Ramkissoon L, Hardisty E, Foreman AKM, Wilhelmsen K, Owen P, Weck KE, Berg JS, Powell CM, Powell BC: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med. 2020 Jan 24. [Epub ahead of print] PMID: 31974414. Peinado S, Paquin RS, Rini C, Roche M, Butterfield RM, Berg JS, Powell CM, Bailey DB, Lewis MA. Values clarification and parental decision making about newborn genomic sequencing. Health Psychol. 2020 Apr;39(4):335-344. PMID: 31886693. Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Holm IA, Parad RB, Berg JS, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med. 2019 Dec 10;4:32. PMID: 31839987. Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA5 Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2019 Oct 8. [Epub ahead of print] PMID: 31595648 Bailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. PMID: 31315600Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J. The North Carolina experience with mucopolysaccharidosis type I newborn screening. J Pediatr. 2019 May 24. [Epub ahead of print] PMID: 31133280Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS. An age-based framework for evaluating genome-scale sequencing results in newborn screening. J Pediatr. 2019 Mar 6 [Epub ahead of print] PMID: 30851990Paquin RS, Peinado S, Lewis MA, Biesecker BB, Rini C, Roche M, Butterfield RM, Powell CM, Berg JS, Bailey DB Jr. A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns. Soc Sci Med. 2018 Nov 9. [Epub ahead of print] PMID: 30448267Powell CM. What genomic sequencing can offer universal newborn screening programs. Hastings Cent Rep. 2018 Jul;48 Suppl 2:S18-S19. PMID: 30133725Milko LV, Rini C, Lewis MA, Butterfield RM, Lin FC, Paquin RS, Powell BC, Roche MI, Souris KJ, Bailey DB Jr, Berg JS, Powell CM. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol. Trials 2018 Jun 28;19(1):344. PMID: 29950170 PMCID: PMC6022715Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet 2018 Apr;176(4):925-935. PMID: 29436146Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Bone health and SATB2-associated syndrome. Clin Genet. 2018 Mar;93(3):588-594. PMID: 28787087Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey DB Jr. Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment. Genet Med. 2018 Feb;20(2):181-189. PMID: 28771249Couser NL, Marchuk DS, Smith L, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Calikoglu MG, Powell CM. Co-occurring Down Syndrome and SUCLA2-related mitochondrial depletion syndrome. Am J Med Gen A 2017 Oct;173(10):2720-2724. PMID: 28749033Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A. Fragile X newborn screening: lessons learned from a multisite screening study. Pediatrics 2017 Jun;139(Suppl 3):S216-S225 PMID: 28814542Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Genet Med. 2017 Nov;19(11):1207-1216. PMID: 28518170Couser NL, Pande CK, Turcott CM, Elaine B. Spector EB, Aylsworth AS, Powell CM: Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. Am J Med Genet A. 2017 Apr;173(4):1097-1101. PMID: 28181399Berg JS, Agrawal PB, Bailey, DB Jr., Beggs AH, Brenner SE, Brower AM, Butler I, Cakici J, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok P-Y, Lantos J, Leeder JS, Lewis MA, McGuire AL, Milko LV, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Watson MS, Willig L, Yu TW, Urv T, Wise AL: Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT). Pediatrics. 2017 Jan 17. 2016-2252. [Epub ahead of print] PMID: 28096516Lewis MA, Paquin RS, Roche MI, Furberg RD, Rini C, Berg JS, Powell CM, Bailey DB Jr. Supporting parental decisions about genomic sequencing for newborn screening: The NC NEXUS Decision Aid. Pediatrics 2016 Jan;137 Suppl 1:S16-23. PMID: 26729698Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 2015 Dec 10. doi: 10.1002/ajmg.a.37495. [Epub ahead of print] PMID: 26663415Berg JS, Foreman AK, O’Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP: A semi-quantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med 2016 May;18(5):467-75. 2015 Aug 13 Epub ahead of print. PMID: 26270767Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J: Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug;136(2):e433-40. PMID: 26169437Rojnueangnit K, Xie1 J,Alicia Gomes A, Sharp, A, Callens T, Liu Y, Cochran M, Abbott M, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling I, Frydman M, Gardner K, Gripp KW, Hernández-Chico, C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas O, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK , Powell CM, Randolph L, Raskin S, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L: High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation. Hum Mutat 2015 Nov;36(11):1052-63. PMID: 26178382Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM: The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review. Am J Med Genet A. Sep, 2015 167A(9):2176-812015 PMID: 25920937.Blatt J, Powell CM, Burkhart CN, Stavas J, Aylsworth AS: Genetics of hemangiomas, vascular malformations, and primary lymphedema J Pediatr Hematol Oncol. 2014; 36:587-93. PMID: 25222064Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CC, Darling TN, Biesecker LG: AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. J. Invest. Derm. 2014, Feb;134(2):543-6. PMCID: PMC3868633 PMID: 23884311Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY: Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat. Commun. 4:1952 doi:10.1038/ncomms2952 (2013). Online publication, 4 Jun 2013. PMID: 23736855Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME: Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Molecular Psychiatry advance online publication, 16 April 2013.Weemaes CM, van Tol MJ, Wang J, van Ostaijen-Ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM: Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013, 21(11):1219-25.Bailey DB Jr, Lewis MA, Harris SL, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell BL Jr: Design and evaluation of a decision aid for inviting parents to participate in a fragile X newborn screening pilot study. J Genet Couns. 2013, 22:108-117.Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC: Investigation of TBR1 hemizygosity: four individuals with 2q24 microdeletions. Mol. Syndromol. 2012, 3:102-112.Rosenfeld JA, 1q21.1 Study Group*, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Alysworth AS *1q21.1 Study Group Contributors The 1q21.1 Study Group includes the following: Ilse Anderson, Brad Angle, Holly Ardinger, Alexander Asamoah, Joan F. Atkin, Judith Axelrod, Patricia Bader, Carrie Blout, Campbell Brasington, Lauren C. Briere, Pamela L. Brock, Barbara Burton, David Chitayat, Lisa J. Cushman, Dawn L. Earl, Dima El-Khechen, Luis F. Escobar, Aline Hamati, David J. Harris, Gail Herman, Jacqueline Hoover, Kelly Jackson, Elizabeth A. Jenkins, Lawrence C. Kaplan, Abigail Klemsz, Yves Lacassie, Roger Ladda, Helen Lyon, Gregory P. MacDonald, Suneeta Madan-Khetarpal, Michael Marble, Paul R. Mark, Laura S. Martin, Nicole Martin, Juliann S. McConnell, Elizabeth McCracken, Marie McDonald, Marianne McGuire, Roberto Mendoza-Londono, Amanda N. Miller, John B. Moeschler, Amanda G. Noyes, Kathryn Platky, Cynthia M. Powell, Abbey Putnam, Vickie Roberts, Warren G. Sanger, Susan Sell, Yasmin Senturias, Vandana Shashi, Natasha Shur, Komudi Siriwardena, Annemarie Sommer, J. Edward Spence, James Stavropoulos, Cathy A. Stevens, Mark Tarnopolsky, Ellen Thomas, Matthew J. Thomas, Amy Venter, David D. Weaver, William G. Wilson. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes; Eur J Hum Genet, Feb. 2012, 1-8, online publication. Rosenfeld, J.A., Amrom, D., Andermann, E., Andermann, F., Veilleux, M., Curry, C., Fisher, J., Deputy, S., Aylsworth, A.S., Powell, C.M., Manickam, K., Heese, B., Maisenbacher, M., Stevens, C., Ellison, J.W., Upton, S., Moeschler, J., Torres-Martinez, W., Stevens, A., Marion, R., Pereira, E.M., Babcock, M., Morrow, B., Sahoo, T., Lamb, A.N., Ballif, B.C., Paciorkowski, A.R., Shaffer, L.G.: Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics, 2012 Feb;13(1):31-47.Skinner D, Choudhoury S, Sideris J, Guarda S, Buansi A, Roche M, Powell C, Bailey DB: Parent’s decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics, Jun;127(6):e1455-63. Epub May 29, 2011. Blatt J, Morrell DS, Buck S, Zdanski C, Gold S, Stavas J, Powell C, Burkhart CN: Beta-blockers for infantile hemangiomas: a single-institution experience. Clin Pediatr 2011 Aug; 50(8):757-63. Kimani JW, Buchman, CA, Booker JK, Huang BY, Castillo M, Powell CM, Weck KE: Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities. Arch Otolaryngol Head Neck Surg. 2010 Oct;136(10):999-1004. Wolff DJ, Van Dyke DL, Powell CM: Working Group of the ACMG Laboratory Quality Assurance Committee: Laboratory guideline for Turner syndrome. Genet Med. 2010 Jan;12(1):52-5.Bailey, D. B., Skinner, D., Roche, M., & Powell, C. (2009). Emerging dilemmas in newborn screening. Virtual Mentor, 11, 709-713. Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG: Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS one. 2009 Aug 10;4(8):e6568. Schmitt CL, Moldenhauer JS, Wolfe H, Kaiser-Rogers K, Powell CM: Prenatal diagnosis of mosaic complete trisomy 1q. Am J Med Genet A. 2009 Aug 149A(8):1801-5. Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM: Seizures in Prader-Willi syndrome: a study of 56 patients and review of the literature. Am J Med Genet A. 2009 Jul 149A(7):1581-4.Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynel? J, Thorne LB. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10). Acta Neuropathol. 2009 Feb;117(2):201-8. Coulter D, Powell CM, Gold S: Weaver syndrome and neuroblastoma. J Pediatr Hematol Oncol. 2008 Oct 30(10):758-60.Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC; NTD Collaborative Group (Aben J, Aylsworth A, Powell C, Mackey J, Worley G, Brei T, Buran C, Bodurtha J, Sawin K, Dias MS, Mack P, Meeropol E, Lasarsky N, McLone D, Ito J, Oakes WJ, Walker M, Peterson P, Iskandar B): Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects: Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):662-9.Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM: Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A. 2008 Jul 15;146A(14):1832-41.Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC: Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 2008 Nov 25;71(22):1764-9.Bailey DB, Skinner D, Davis A, Whitmarsh I, Powell C: Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics. 121(3):e693-704, 2008.Kranz C, Basinger AA, Gucavas-Calikoglu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH: Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A. 143(12):1371-8, 2007.Martin CL, Duvall JA, Ilkin Y, Simon J, Arreaza M, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH: Cytogenetic and molecular characterization of A2BP1/ FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet. 144(7):869-76, 2007. Scanga L, Chaing S, Powell C, Aylsworth AS, Harrell LJ, Henshaw NG, Civalier CJ, Thorne LB, Weck K, Booker J, Gulley ML: Diagnosis of Congenital Human Cytomegalovirus Infection by PCR of Viral DNA from Dried Blood Spots on Perinatal Cards. Clinical Chemistry 8(2):240-245, 2006.Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. J Med Genet. 42(12):940-6, 2005. Ravassipour DB, Powell CM, Phillips CL, Hart PS, Hart TC, Boyd C, Wright JT: Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta. Arch Oral Biol 50(7):611-23, 2005.Kaiser-Rogers KA, Rao KW, Michaelis RC, Lese CM, Powell CM: Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements. American Journal of Medical Genetics 95:28-35, 2000.Mah ML, Wallace, DK, Powell CM: Ophthalmic manifestations of Angelman syndrome. Journal of the American Association for Pediatric Ophthalmology and Strabismus 4(4):248-249, 2000.Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, Ravan SA, Powell CM, Qumsiyeh MB, Aylsworth AS, Vance JM, Gilbert JR, Wright HH, Abramson RK, DeLong GR, Cuccaro, Pericak-Vance MA: Genetic studies of autistic disorder and chromosome 7. Genomics 61:227-236, 1999.Powell CM, Michaelis RC: Townes-Brocks syndrome. Journal of Medical Genetics 36:89-93, 1999.Eubanks SR, Kuller JA, Amjadi D, Powell CM: Prenatal diagnosis of mosaic trisomy 13: a case report. Prenatal Diagnosis, 18: 971-974, 1998.Murphy DG, Mentis MJ, Pietrini P, Grady C, Daly E, Haxby JV, De La Granja M, Allen G, Largay K, White BJ, Powell CM, Horwitz B, Rapoport SI, Schapiro MB: A PET study of Turner’s syndrome: effects of sex steroids and the X chromosome on brain. Biological Psychiatry 41(3):285-98, 1997.Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. American Journal of Human Genetics 58:734-742, 1996.Murphy DG, Allen G, Haxby JV, Largay KA, Daly E, White BJ, Powell CM, Schapiro MB: The effects of sex steroids, and the X chromosome, on female brain function: a study of the neuropsychology of adult Turner syndrome. Neuropsychologia 32(11):1309-23, 1994.Powell CM, Taggart RT, Drumheller TC, Wangsa D, Qian C, Nelson LM, White BJ: Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. American Journal of Medical Genetics 52:19-26, 1994.Murphy DGM, DeCarli C, Daly E, Haxby JV, Allen G, White BJ, McIntosh AR, Powell CM, Horwitz B, Rapoport SI, Schapiro MB: X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome. Lancet 342:1197-1200, 1993.Powell CM, Chandra RS, Saal HM: PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. American Journal of Medical Genetics 47:807-811, 1993.Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KR: Mosaic 5p tetrasomy. American Journal of Medical Genetics 45:774-776, 1993.Gorelick MH, Powell CM, Rosenbaum KN, Saal HM, Conry J, Fitz CR: Progressive cerebrovascular occlusive disease in a patient with neurofibromatosis type 1. Clinical Pediatrics 31:313-315, 1992.Other Peer-Reviewed Articles and Commentaries:Powell CM: What is newborn screening? N C Med Journal Jan-Feb;80(1):32-36, 2019. PMID: 30622202Bieber FR, Cherry AM, Emanuel BS, Francke U, Hoyme HE, Jackson LG, Morton CC, Muenke M, Powell CM, Punnett HH, Rao PN, Schwartz S, Stevenson RE, Van Dyke DL. Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics. Genetics in Medicine. 2017 Mar;19(3):294-296. 2016 Nov 17. [Epub ahead of print] PMID: 27854359Bailey DB, Lewis MA, Roche M, Powell CM. Family relations in the genomic era: Communicating about intergenerational transmission of risk for disability.? Family Relations, 2014, 63: 85-100.Bailey DB Jr., Skinner D, Roche MI, Powell C. Emerging Dilemmas in Newborn Screening. Virtual Mentor. 2009; 11:709-713. Accessed September 1, 2009.Powell CM: Array CGH: Narrowing the search for causes of birth defects and mental retardation. Invited article, AAP News (National publication of the American Academy of Pediatrics) July, 2006, 27:18. Powell CM: Down syndrome, genetic and pediatric perspectives. CenterNews, The Quarterly Newsletter for the UNC Center for Maternal and Infant Health, Fall 2002, pages 1-2Parens E, Asch A, Baily MA, Bianchi D, Biesecker BB, Botkin J, Crigger B-J, Dreher D, Ferguson P, Gartner A, Kittay EF, Lipsky DK, Jennings B, Murray TH, Nelson JL, Ossorio P, Powell C, Press N, Punales-Morejon D, Ralston S, Ruddick W, Saxton M, Steinbock B, Wertz D, Wilfond B: The disability rights critique of prenatal genetic testing. Hastings Center Report-Special Supplement, September-October 1999, pages 1-22. ................
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