CarolLynnGreeneMD

PubMed

• 32 citations
  The Human Disease Ontology 2022 update.
  Lynn M. Schriml, James B. Munro, Mike Schor, Dustin Olley, Carrie McCracken, Victor Felix, J Allen Baron, Rebecca C. Jackson, Susan M. Bello, Cynthia F. Bearer, Richar...> ;Nucleic Acids Research. 2021 Nov 10
• Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model.
  Ira M. Lubin, Edward R. Lockhart, Julie Frank, Vincent See, Sudhir Vashist, Carol L. Greene> ;Diagnosis. 2021 Feb 23
• 1 citations
  Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review.
  Brooke E. Kimbrell, Faith Hicks, Cortney B. Foster, Omayma A. Kishk, Sara A. Quinteros-Fernandez, Maria Eleni Nikita, Carol L. Greene> ;Molecular Genetics and Metabolism Reports. 2020 Dec 1
• 5 citations
  Duplication 6q24: More Than Just Diabetes
  Rachel H Gore, Maria Eleni Nikita, Paula G Newton, Rebecca G. Carter, Jeanine Reyes-Bautista, Carol L. Greene> ;Journal of the Endocrine Society. 2020 May 1
• 13 citations
  Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.
  Susan A. Berry, Christine Brown, Carol L. Greene, Kathryn M. Camp, Stephen L. Mcdonough, Joseph A. Bocchini, Children> ;Pediatrics. 2020 Mar 1
• 11 citations
  Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.
  Mary A. Gudipati, Elizabeth Waters, Carol L. Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew Webley, Ying Zou> ;Molecular Cytogenetics. 2019 Oct 31
• 232 citations
  Human Disease Ontology 2018 update: classification, content and workflow expansion.
  Lynn M. Schriml, Elvira Mitraka, James B. Munro, Becky Tauber, Mike Schor, Lance Nickle, Victor Felix, Linda Jeng, Cynthia F. Bearer, Richard Lichenstein, Katharine Bi...> ;Nucleic Acids Research. 2019 Jan 8
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 2 citations
  Evaluation of Diverse Health Professionals' Learning Experience in a Continuing Education Activity for Quality Practices in Molecular Genetic Testing.
  Bin Chen, Shahram Shahangian, Thomas H. Taylor, Ajay Yesupriya, Carol L. Greene, Valerie J. Curry, Barbara Zehnbauer> ;Clinical Laboratory Science. 2016 Oct 1
• 10 citations
  The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
  Lori Anne P. Schillaci, Carol L. Greene, Erin T. Strovel, Jessica Rispoli-Joines, Elaine B. Spector, Michael Woontner, Gunter Scharer, Gregory M. Enns, Renata C. Galla...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 307 citations
  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andre...> ;Genetics in Medicine. 2015 Sep 2
• 5 citations
  National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the Am...
  Carol L. Greene, Nicola Longo> ;Molecular Genetics and Metabolism. 2014 Jun 1
• 150 citations
  Phenylketonuria Scientific Review Conference: state of the science and future research needs.
  Kathryn M. Camp, Melissa A. Parisi, Phyllis B. Acosta, Gerard T. Berry, Deborah A. Bilder, Nenad Blau, Olaf Bodamer, Jeffrey P. Brosco, Christine Brown, Alberto Burlin...> ;Molecular Genetics and Metabolism. 2014 Jun 1
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• 1 citations
  A 2-Year-Old Boy With Knee Pain, Fever, and Multiple Birthmarks
  Rosa Nguyen, John S. Kim, Narendra Shet, Bertrand Janne d’Othée, Carol L. Greene> ;Clinical Pediatrics. 2014 Jan 1
• 13 citations
  Insurance coverage of medical foods for treatment of inherited metabolic disorders
  Susan A. Berry, Mary Kay Kenney, Katharine B. Harris, Rani H. Singh, Cynthia A. Cameron, Jennifer N. Kraszewski, Jill Levy-Fisch, Jill F. Shuger, Carol L. Greene, Mich...> ;Genetics in Medicine. 2013 Apr 18
• 78 citations
  Newborn screening 50 years later: access issues faced by adults with PKU
  Susan A. Berry, Christine Brown, Mitzie Grant, Carol L. Greene, Elaina Jurecki, Jean Koch, Kathryn Moseley, Ruth Suter, Sandra C. Van Calcar, Judy Wiles, Stephen D. Ce...> ;Genetics in Medicine. 2013 Mar 7
• 67 citations
  The impact of false-positive newborn screening results on families: a qualitative study.
  Johanna L. Schmidt, Karen Castellanos-Brown, Saltanat Childress, Natasha Bonhomme, Julianne S. Oktay, Sharon F. Terry, Penny Kyler, Amy J. Davidoff, Carol L. Greene> ;Genetics in Medicine. 2012 Jan 1
• 1 citations
  Microarray analysis of an unbalanced t(4;13) translocation narrows down the trisomy 13 associated polydactyly to a 7 Mb region.
  Joann Meekins, Melody Butler, Megan Skinner, Richard Shippy, Carol L. Greene, Yi Ning> ;American Journal of Medical Genetics. Part A. 2010 Nov 1
• 1 citations
  Promoting quality of genetic testing with guidelines for good laboratory practices.
  Bin Chen, Carol L. Greene> ;Molecular Genetics and Metabolism. 2010 Mar 1
• Laboratory referral practices in biochemical genetics in the United States.
  Bruce A. Barshop, Carol L. Greene> ;Molecular Genetics and Metabolism. 2009 Sep 1
• 29 citations
  Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata
  Michelle C. Nino, Claudia Matos-Miranda, Momoe Maeda, Li Chen, Judith Allanson, Christine M. Armour, Carol L. Greene, Majeeda Kamaluddeen, Debra Rita, Livija Medne, El...> ;American Journal of Medical Genetics. Part A. 2008 Apr 15
• 51 citations
  Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disor...
  Alex R. Kemper, Coleen A. Boyle, Javier Aceves, Denise Dougherty, James Figge, Jill L Fisch, Alan R. Hinman, Carol L. Greene, Christopher A. Kus, Julie Miller, Derek R...> ;Genetics in Medicine. 2008 Apr 1
• 100 citations
  The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
  Scott D. Grosse, Muin J. Khoury, Carol L. Greene, Krista S. Crider, Rodney J. Pollitt> ;Genetics in Medicine. 2006 Apr 1
• 41 citations
  Developing a sustainable process to provide quality control materials for genetic testing.
  Bin Chen, Catherine D. O'Connell, D. Joe Boone, Jean A. Amos, Jeanne C. Beck, Maria M. Chan, Daniel H. Farkas, Roger V. Lebo, Carolyn Sue Richards, Benjamin B. Roa, La...> ;Genetics in Medicine. 2005 Oct 1
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