Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S; Anikster, Yair; Saltiel, Alan R; Distelmaier, Felix.

Am J Hum Genet ; 106(2): 246-255, 2020 02 06.

Artigo em Inglês | MEDLINE | ID: mdl-32004447

2.

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

Roman, Tamara S; Crowley, Stephanie B; Roche, Myra I; Foreman, Ann Katherine M; O'Daniel, Julianne M; Seifert, Bryce A; Lee, Kristy; Brandt, Alicia; Gustafson, Chelsea; DeCristo, Daniela M; Strande, Natasha T; Ramkissoon, Lori; Milko, Laura V; Owen, Phillips; Roy, Sayanty; Xiong, Mai; Paquin, Ryan S; Butterfield, Rita M; Lewis, Megan A; Souris, Katherine J; Bailey, Donald B; Rini, Christine; Booker, Jessica K; Powell, Bradford C; Weck, Karen E; Powell, Cynthia M; Berg, Jonathan S.

Am J Hum Genet ; 107(4): 596-611, 2020 10 01.

Artigo em Inglês | MEDLINE | ID: mdl-32853555

3.

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.

Ream, Margie A; Lam, Wendy K K; Grosse, Scott D; Ojodu, Jelili; Jones, Elizabeth; Prosser, Lisa A; Rosé, Angela M; Comeau, Anne Marie; Tanksley, Susan; Powell, Cynthia M; Kemper, Alex R.

Genet Med ; 25(2): 100330, 2023 02.

Artigo em Inglês | MEDLINE | ID: mdl-36445366

4.

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

Maron, Jill L; Kingsmore, Stephen; Gelb, Bruce D; Vockley, Jerry; Wigby, Kristen; Bragg, Jennifer; Stroustrup, Annemarie; Poindexter, Brenda; Suhrie, Kristen; Kim, Jae H; Diacovo, Thomas; Powell, Cynthia M; Trembath, Andrea; Guidugli, Lucia; Ellsworth, Katarzyna A; Reed, Dallas; Kurfiss, Anne; Breeze, Janis L; Trinquart, Ludovic; Davis, Jonathan M.

JAMA ; 330(2): 161-169, 2023 07 11.

Artigo em Inglês | MEDLINE | ID: mdl-37432431

5.

Training the next generation of genomic medicine providers: trends in medical education and national assessment.

Dasgupta, Shoumita; Feldman, Gerald L; Powell, Cynthia M; Toriello, Helga V; Westman, Judith; Wilson, William G; Waggoner, Darrel J.

Genet Med ; 22(10): 1718-1722, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32555416

6.

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora, Neeta L; Gilmore, Kelly; Brandt, Alicia; Gustafson, Chelsea; Strande, Natasha; Ramkissoon, Lori; Hardisty, Emily; Foreman, Ann Katherine M; Wilhelmsen, Kirk; Owen, Phillips; Weck, Karen E; Berg, Jonathan S; Powell, Cynthia M; Powell, Bradford C.

Genet Med ; 22(8): 1426, 2020 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-32555414

7.

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora, Neeta L; Gilmore, Kelly; Brandt, Alicia; Gustafson, Chelsea; Strande, Natasha; Ramkissoon, Lori; Hardisty, Emily; Foreman, Ann Katherine M; Wilhelmsen, Kirk; Owen, Phillips; Weck, Karen E; Berg, Jonathan S; Powell, Cynthia M; Powell, Bradford C.

Genet Med ; 22(5): 954-961, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-31974414

8.

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.

Moultrie, Rebecca R; Paquin, Ryan; Rini, Christine; Roche, Myra I; Berg, Jonathan S; Powell, Cynthia M; Lewis, Megan A.

Matern Child Health J ; 24(7): 856-864, 2020 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-32424581

9.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor, Jennifer L; Clinard, Kristin; Powell, Cynthia M; Rehder, Catherine; Young, Sarah P; Bali, Deeksha; Beckloff, Sara E; Gehtland, Lisa M; Kemper, Alex R; Lee, Stacey; Millington, David; Patel, Hari S; Shone, Scott M; Woodell, Carol; Zimmerman, Scott J; Bailey, Donald B; Muenzer, Joseph.

J Pediatr ; 211: 193-200.e2, 2019 08.

Artigo em Inglês | MEDLINE | ID: mdl-31133280

10.

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Milko, Laura V; O'Daniel, Julianne M; DeCristo, Daniela M; Crowley, Stephanie B; Foreman, Ann Katherine M; Wallace, Kathleen E; Mollison, Lonna F; Strande, Natasha T; Girnary, Zahra S; Boshe, Lacey J; Aylsworth, Arthur S; Gucsavas-Calikoglu, Muge; Frazier, Dianne M; Vora, Neeta L; Roche, Myra I; Powell, Bradford C; Powell, Cynthia M; Berg, Jonathan S.

J Pediatr ; 209: 68-76, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30851990

11.

Early Check: translational science at the intersection of public health and newborn screening.

Bailey, Donald B; Gehtland, Lisa M; Lewis, Megan A; Peay, Holly; Raspa, Melissa; Shone, Scott M; Taylor, Jennifer L; Wheeler, Anne C; Cotten, Michael; King, Nancy M P; Powell, Cynthia M; Biesecker, Barbara; Bishop, Christine E; Boyea, Beth Lincoln; Duparc, Martin; Harper, Blake A; Kemper, Alex R; Lee, Stacey N; Moultrie, Rebecca; Okoniewski, Katherine C; Paquin, Ryan S; Pettit, Denise; Porter, Katherine Ackerman; Zimmerman, Scott J.

BMC Pediatr ; 19(1): 238, 2019 07 17.

Artigo em Inglês | MEDLINE | ID: mdl-31315600

12.

What is Newborn Screening?

Powell, Cynthia M.

N C Med J ; 80(1): 32-36, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-30622202

13.

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

Lewis, Megan A; Stine, Alex; Paquin, Ryan S; Mansfield, Carol; Wood, Dallas; Rini, Christine; Roche, Myra I; Powell, Cynthia M; Berg, Jonathan S; Bailey, Donald B.

Genet Med ; 20(2): 181-189, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-28771249

14.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate, Yuri A; Smith-Hicks, Constance L; Greene, Carol; Abbott, Mary-Alice; Siu, Victoria M; Calhoun, Amy R U L; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M; Perry, Hazel; Saenz, Margarita; Szybowska, Marta; Wilson, Louise C; Kumar, Ajith; Brain, Caroline; Balasubramanian, Meena; Dubbs, Holly; Ortiz-Gonzalez, Xilma R; Zackai, Elaine; Stein, Quinn; Powell, Cynthia M; Schrier Vergano, Samantha; Britt, Allison; Sun, Angela; Smith, Wendy; Bebin, E Martina; Picker, Jonathan; Kirby, Amelia; Pinz, Hailey; Bombei, Hannah; Mahida, Sonal; Cohen, Julie S; Fatemi, Ali; Vernon, Hilary J; McClellan, Rebecca; Fleming, Leah R; Knyszek, Brittney; Steinraths, Michelle; Velasco Gonzalez, Cruz; Beck, Anita E; Golden-Grant, Katie L; Egense, Alena; Parikh, Aditi; Raimondi, Chantalle; Angle, Brad.

Am J Med Genet A ; 176(4): 925-935, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29436146

15.

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.

Bieber, Frederick R; Cherry, Athena M; Emanuel, Beverly S; Francke, Uta; Hoyme, H Eugene; Jackson, Laird G; Morton, Cynthia C; Muenke, Maximillian; Powell, Cynthia M; Punnett, Hope H; Rao, P Nagesh; Schwartz, Stuart; Stevenson, Roger E; Van Dyke, Daniel L.

Genet Med ; 19(3): 294-296, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27854359

16.

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Vora, Neeta L; Powell, Bradford; Brandt, Alicia; Strande, Natasha; Hardisty, Emily; Gilmore, Kelly; Foreman, Ann Katherine M; Wilhelmsen, Kirk; Bizon, Chris; Reilly, Jason; Owen, Phil; Powell, Cynthia M; Skinner, Debra; Rini, Christine; Lyerly, Anne D; Boggess, Kim A; Weck, Karen; Berg, Jonathan S; Evans, James P.

Genet Med ; 19(11): 1207-1216, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28518170

17.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Couser, Natario L; Pande, Chetna K; Turcott, Christie M; Spector, Elaine B; Aylsworth, Arthur S; Powell, Cynthia M.

Am J Med Genet A ; 173(4): 1097-1101, 2017 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-28181399

18.

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M.

Am J Med Genet A ; 173(10): 2720-2724, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28749033

19.

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

Bean, Lora J H; Scheuner, Maren T; Murray, Michael F; Biesecker, Leslie G; Green, Robert C; Monaghan, Kristin G; Palomaki, Glenn E; Sharp, Richard R; Trotter, Tracy L; Watson, Michael S; Powell, Cynthia M.

Genet Med ; 23(6): 979-988, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-33790423

20.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Berg, Jonathan S; Foreman, Ann Katherine M; O'Daniel, Julianne M; Booker, Jessica K; Boshe, Lacey; Carey, Timothy; Crooks, Kristy R; Jensen, Brian C; Juengst, Eric T; Lee, Kristy; Nelson, Daniel K; Powell, Bradford C; Powell, Cynthia M; Roche, Myra I; Skrzynia, Cecile; Strande, Natasha T; Weck, Karen E; Wilhelmsen, Kirk C; Evans, James P.

Genet Med ; 18(5): 467-75, 2016 05.

Artigo em Inglês | MEDLINE | ID: mdl-26270767

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