Cynthia M. Powell

5.0k citations

79 papers · 2.5k indexed · h-index 28

Genetics top 1%
- Genomics and Rare Diseases 25
- Genomic variations and chromosomal abnormalities 17
- Genetics and Neurodevelopmental Disorders 9
- BRCA gene mutations in cancer 7
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics 16
Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders 11
Cognitive Neuroscience top 5%
Molecular Biology top 10%
- Congenital heart defects research 7
Public Health, Environmental and Occupational Health
- Ethics in Clinical Research 8

Co-authors: Arthur S. Aylsworth Jonathan S. Berg Donald B. Bailey Ron C. Michaelis Myra I. Roche Debra Skinner Beverly J. White Allison E. Ashley‐Koch
Cited by: Genetics Pediatrics, Perinatology and Child Health Clinical Biochemistry
Journals: JAMA (1 paper)Nature Communications (1 paper)SHILAP Revista de lepidopterología (1 paper)
Partner nations: United States United Kingdom Japan

In The Last Decade

Cynthia M. Powell

72 papers receiving 2.4k citations

Peers

Countries citing papers authored by Cynthia M. Powell

Since Specialization

Citations

This map shows the geographic impact of Cynthia M. Powell's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Cynthia M. Powell with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Cynthia M. Powell more than expected).

Fields of papers citing papers by Cynthia M. Powell

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Cynthia M. Powell. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Cynthia M. Powell. The network helps show where Cynthia M. Powell may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Cynthia M. Powell, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Cynthia M. Powell Line = papers co-authored together Cynthia M. Powell links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Advances in Newborn Screening Pediatric Clinics of North America ·Cynthia M. Powell	2025	0
2	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) Genetics in Medicine ·Lora Jh Bean,Maren T. Scheuner,Michael F. Murray,Leslie G. Biesecker,Robert C. Green,Kristin G. Monaghan,Glenn E. Palomaki,Richard R. Sharp,Tracy L. Trotter,Michael S. Watson,Cynthia M. Powell	2021	18
3	Outreach to new mothers through direct mail and email: recruitment in the Early Check research study Clinical and Translational Science ·Ryan S. Paquin,Megan A. Lewis,Blake A. Harper,Rebecca Moultrie,Angela Gwaltney,Lisa M. Gehtland,Holly L. Peay,Martin Duparc,Melissa Raspa,Anne Wheeler,Cynthia M. Powell,Nancy M. P. King,Scott M. Shone,Donald B. Bailey	2020	8
4	An approach to integrating exome sequencing for fetal structural anomalies into clinical practice Genetics in Medicine ·Neeta L. Vora,Kelly L. Gilmore,Alicia Brandt,Chelsea Gustafson,Natasha T. Strande,Lori Ramkissoon,Emily Hardisty,Ann Katherine M. Foreman,Kirk C. Wilhelmsen,Phillips Owen,Karen E. Weck,Jonathan S. Berg,Cynthia M. Powell,Bradford C. Powell	2020	51
5	What is Newborn Screening? North Carolina Medical Journal ·Cynthia M. Powell	2019	15
6	An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening The Journal of Pediatrics ·Laura V. Milko,Julianne O’Daniel,Daniela M. DeCristo,Stephanie B. Crowley,Ann Katherine M. Foreman,Kathleen Wallace,Lonna Mollison,Natasha T. Strande,Zahra S. Girnary,Lacey Boshe,Arthur S. Aylsworth,Müge Güçsavaş‐Çalıkoğlu,Dianne M. Frazier,Neeta L. Vora,Myra I. Roche,Bradford C. Powell,Cynthia M. Powell,Jonathan S. Berg	2019	44
7	Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study PEDIATRICS ·Donald B. Bailey,Elizabeth Berry‐Kravis,Louise W. Gane,Sonia Guarda,Randi J. Hagerman,Cynthia M. Powell,Flora Tassone,Anne Wheeler	2017	21
8	Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome American Journal of Medical Genetics Part A ·Natario L. Couser,Daniel S. Marchuk,Laurie D. Smith,Alexandra Arreola,Kathleen Kaiser‐Rogers,Joseph Muenzer,Arti Pandya,Müge Güçsavaş‐Çalıkoğlu,Cynthia M. Powell	2017	0
9	Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment Genetics in Medicine ·Megan A. Lewis,Alex Stine,Ryan S. Paquin,Carol Mansfield,Dallas Wood,Christine Rini,Myra I. Roche,Cynthia M. Powell,Jonathan S. Berg,Donald B. Bailey	2017	26
10	ADDENDUM: Laboratory guideline for Turner syndrome Genetics in Medicine ·Thomas W. Prior,Daynna J. Wolff,Daniel Van Dyke,Cynthia M. Powell	2016	2
11	Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy Nature Communications ·Eric J. Horstick,Jeremy W. Linsley,James J. Dowling,Michael A. Hauser,Kristin McDonald Gibson,Allison E. Ashley‐Koch,Louis Saint‐Amant,Akhila Satish,Wilson W. Cui,Weibin Zhou,Shawn M. Sprague,Demetra S. Stamm,Cynthia M. Powell,Marcy C. Speer,Clara Franzini‐Armstrong,Hiromi Hirata,John Y. Kuwada	2013	186
12	Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions Molecular Syndromology ·Ryan N. Traylor,William B. Dobyns,Jill A. Rosenfeld,Patricia G. Wheeler,J. Edward Spence,Anne M. Bandholz,Erawati V. Bawle,Erin P. Carmany,Cynthia M. Powell,Beth Hudson,Roger A. Schultz,L.G. Shaffer,B. C. Ballif	2012	31
13	Prenatal diagnosis of mosaic complete trisomy 1q American Journal of Medical Genetics Part A ·Colleen L. Schmitt,Julie S. Moldenhauer,Honor M. Wolfe,Kathleen Kaiser‐Rogers,Cynthia M. Powell	2009	3
14	Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome PLoS ONE ·Jill A. Rosenfeld,Blake C. Ballif,Ann Lucas,Edward J. Spence,Cynthia M. Powell,Arthur S. Aylsworth,Beth A. Torchia,Lisa G. Shaffer	2009	93
15	Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Alastair J. Martin,Jacqueline A. Duvall,Yesim Ilkin,Jason S. Simon,M. Gladys Arreaza,Kristin Wilkes,Ana Isabel Alvarez-Retuerto,Amy Whichello,Cynthia M. Powell,Kathleen Rao,Edwin H. Cook,Daniel H. Geschwind	2007	162
16	Expanding spectrum of congenital disorder of glycosylation Ig (CDG‐Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality American Journal of Medical Genetics Part A ·Christian Kranz,Alice Basinger,Müge Güçsavaş‐Çalıkoğlu,Liangwu Sun,Cynthia M. Powell,Frederick W. Henderson,Arthur S. Aylsworth,Hudson H. Freeze	2007	65
17	Information Centers that Innovate: Six Librarians Provide Secrets to Success. Jill Konieczko,Cynthia M. Powell	2003	6
18	The effects of sex steroids, and the X chromosome, on female brain function: A study of the neuropsychology of adult turner syndrome Neuropsychologia ·Declan Murphy,Greg Allen,James V. Haxby,Kimberly A. Largay,Eileen Daly,Beverly J. White,Cynthia M. Powell,Mark B. Schapiro	1994	66
19	Mosaic 5p tetrasomy American Journal of Medical Genetics ·Wayne S. Stanley,Cynthia M. Powell,Grace C. Devine,T. Ellingham,Carole Samango‐Sprouse,Donna Rae Vaught,Bridget A. Murphy,Kenneth N. Rosenbaum	1993	24
20	Botulinum toxin therapy for squint Eye ·J Lee,John Elston,S Vickers,Cynthia M. Powell,J Ketley,Christopher Hogg	1988	29

About Cynthia M. Powell

Cynthia M. Powell is a scholar working on Genetics, Clinical Biochemistry and Pediatrics, Perinatology and Child Health, having authored 79 papers that have together received 2.5k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (25 papers), Genomic variations and chromosomal abnormalities (17 papers), Prenatal Screening and Diagnostics (16 papers), Metabolism and Genetic Disorders (11 papers), Genetics and Neurodevelopmental Disorders (9 papers), Ethics in Clinical Research (8 papers), BRCA gene mutations in cancer (7 papers) and Congenital heart defects research (7 papers). The work is most often cited by research in Genetics (1.2k citations), Pediatrics, Perinatology and Child Health (536 citations) and Clinical Biochemistry (176 citations). Cynthia M. Powell has collaborated with scholars based in United States, United Kingdom and Japan. Frequent co-authors include Arthur S. Aylsworth, Jonathan S. Berg, Donald B. Bailey, Ron C. Michaelis, Myra I. Roche, Debra Skinner, Beverly J. White, Allison E. Ashley‐Koch, Demetra S. Stamm and Ann Katherine M. Foreman. Their work appears in journals such as JAMA, Nature Communications and SHILAP Revista de lepidopterología.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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