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Carol L. Greene, MD

Academic Title:


Primary Appointment:


Secondary Appointment(s):

OB GYN & Reproductive Science


737 W. Lombard St., 199

Phone (Primary):

(410) 328-3335


(410) 328-5484

Education and Training

1971-1974: B.S. (biology), Stanford University, Palo Alto, California
1974-1977: M.D., Albert Einstein College of Medicine, Bronx, N.Y.

Post Graduate Training

1977-1980: Pediatric Internship and Residency, Children's Hospital of Los Angeles, Los Angeles, California
1980-1983: Fellow in Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California


Carol Greene, M.D., received her MD from Albert Einstein College of Medicine and initially trained in Pediatrics at the Children’s Hospital of Los Angeles, before training in Genetics at Stanford Medical Center.  She is currently Professor of Pediatrics and of Ob/GYN at the University of Maryland, and is director of the pediatrics genetics clinic, co-director of the adult genetics clinic, and the Medical Director of the Masters in Genetic Counseling program.  She is a Board Certified Clinical Geneticist with special interests in inborn errors of metabolism, newborn screening and public policy.  She is a past President of the Society for Inherited Metabolic Disorders.  Her public policy experience includes a year working as staff for the Committee on Health, Labor and Pensions of the United States Senate in 1999 as a Congressional Fellow, followed by four years with the Department of Health and Human Services as an Analyst in the Office of Science Policy of the Office of the Secretary/Assistant Secretary for Planning and Evaluation, and currently she works with the CDC on quality improvement for genetic testing, and serves as an advisor to Baby’s First Test for newborn screening. 

Research/Clinical Keywords

Inborn errors of metabolism (biochemical genetics); Newborn screening Clinical genetics; Quality in genetic testing; Access to genetic services

Highlighted Publications

Selected recent chapters and reviews:

Greene CL“Inborn Errors of Metabolism.”  In: Medical Genetics and Pediatric Practice:  A Handbook.  Publication of the AAP, May, 2013

Matern D and Greene CL:  “Newborn Screening.”  In the Physician’s guide to the Diagnosis, Treatment, and Follow-up of Metabolic Diseases.  Editors Blau, Duran, Gibson, Dionisi-Vici and Blaskovics, Springer Press, 2014

Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2016 Oct 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from:

IN PRESS:  Greene, CL:  “Inborn Errors of Metabolism After the Neonatal Period.”  In the American Academy of Pediatrics Textbook (on-line) of Pediatric Care.  Per AAP, the citation for bound book will be: Greene CL. Metabolic disorders beyond the newborn period. In: McInerny TK, Adam HM, Campbell DE, DeWitt TG, Foy JM, Kamat DM, eds. American Academy of Pediatrics Textbook of Pediatric Care. 2nd ed. Elk Grove Village, IL: American Academy of Pediatrics; 2017: 2315–2331


ON-LINE Course


Chen, B, Greene CL, Keuhl D, Zenbauer B and Keller P:  Good Laboratory Practices For Molecular Genetic Testing.  An on-line interactive multimedia CME and PACE training course for the National Laboratory Training Network in collaboration with the Centers for Disease Control and Prevention, published Sept 1, 2012 by the Association for Public Health Laboratories at


For Peer-Reviewed Publications see next section

Additional Publication Citations

Journals: Peer Reviewed

 1.   Gibson KM, Sweetman L, Nyhan WL, Page TM, Greene CL and Cann HM:  3 Hydroxy-3-methylglutaric aciduria:  A new assay of 3-hydroxy-3-methylglutaryl-CoA lyase using high performance liquid chromatography.  Clin Chim Acta 126:171-181, 1982.

 2.   Greene CL, Cann HM, Robinson BH, Gibson DM, Sweetman L, Holm J and Nyhan WL:  3-hydroxy-3-methyl-glutaric aciduria.  J Neurogenet 1:165-173, 1984.

 3.   Greene CL, Pitts W, Rosenfeld R and Luzzatti L:  Sex reversal in the Smith-Lemli-Opitz syndrome:  Pathologic and endocrine evaluation.  Clin Gent 25:366-372, 1984.

 4.   Greene CL, Wilson A and Shapira E:  Prune belly syndrome and heart defect in one of monozygotic twins following exposure to Tigan and Bendectin.  Acta Genet Med Genello (Roma) 34:1010-104, 1985.

 5.   Gregory P, Greene CL, Shapira E and Wang N:  Alterations in the time of X chromosome replication induced by 5-azacytidine in a patient with 48 XXXY/47 XXY.  Cytogenet Cell Genet 39:234-236, 1985.

 6.   Amendt B, Greene CL, Sweetman L, Cloherty J, Shih V, Moon A, Teel L and Rhead W:  Short-chain acyl-CoA dehydrogenase deficiency:  Clinical and biochemical studies in two patients.  J Clin Invest 79:1303-1309, 1987.

 7.   Greene CL, Blitzer MG and Shapira E:  Inborn errors of metabolism and Reye syndrome:  Differential diagnosis.  J Pediatric 113(1):156-159, 1988.

 8.   Gibson KM, Brea J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, Conde C, Bagnell P and Cole DEC:  3-Hydroxy-3-methylgulatryl-coenzyme A lyase deficiency:  Report of five new patients.  J Inher Metab Dis 11:76-87, 1988.

 9.   Luder AL, Davidson AD, Goodman SI and Greene CL:  Transient nonketotic hyperglycinemia in neonates.  J Pediatric 114:(6):1013-1015, 1989.

 10.  Luder AL, Yannicelli S, Greene CL:  Normal growth and development with unrestricted protein intake after severe infantile propionic acidemias.  J Inher Metab Dis 12:307-311, 1989.

 11.  Luder AL and Greene CL:  Maternal phenylketonurea and hyperphenylalaninemia:  Implications for medical practice in the United States.  Am J of Ob Gyn 161(5):1102-1105, 1989.

 12.  Nord A, vanDoorninck WJ and Greene CL:  Developmental Profile of Patients with Maple Syrup Urine Disease.  J Inher Metab Dis, 14, 881-889, 1991.

 13.  Davidson-Mundt A, Luder AS, Greene CL:  Hyperuricemia in Medium Chain Acyl-CoA Dehydrogenase Deficiency.  J Peds, 120:444-6, 1992.

 14.  Mazzocco MMM, Yannicelli SY, Nord AN, Davidson-Mundt AJ, Greene CL, Pennington BB:  Cognition and Tyrosine Supplementation Among School Age Children with Phenylketonuria.  Am J Dis Child, 146:1261-1264, 1992.

 15.  Friedman JM, Birch P, Greene CL, NNFF International Database Participants.  National Neurofibromatosis Foundation International Database.  Am J Med Gen, 45:88-91, 1993.

 16.  Acosta PB, Greene CL, Yannicelli S, Korson M, Rohr F, Hooper L, Williams J and Mofidi S.  Nutrition Studies in Treated Infants with Phenylketonuria Int Peds, 8:63-73, 1993.

 17.  Mazzocco MMM, Nord A, Kovar C, Greene CL, vanDoorninck WJ, Pennington B.  Cognitive Development Among Children with Early Treated Phenylketonuria.  Devel Neuropsych, 10:133-151, 1994.

 18.  McDowell G, Blitzer MJ and Greene CL.  Variable Expression in Siblings with Hurler Syndrome and San Filipo A Syndrome:  Implications for Evaluation of Treatment.  Am J Med Gen 47:1092-1095, 1993.

 19.  Citron BA, Kaufman S, Milstein S, Naylor EW, Greene CL and Davis MD.  Mutation in the Carbinolamine Dehydratase Gene Leads to Mild Hyperphenylalaninemia with Deficient Co-factor Metabolism.  Am J Hum Gen 53:768-774, 1993.

 20.  Arnold GL, Greene CL and Goodman SI.  Molybdenum Co-factor Deficiency.  J Peds 123:595-598, 1993.

 21.  Alderman BW, Bradley CM, Greene CL, Fernbach S, Baron AE.  Increased Risk of Craniosynostosis with Maternal Cigarette Smoking During Pregnancy.  Teratology 50:13-18, 1994.

 22.  Bradley CM, Alderman BW, Williams MA, Chectsoway H, Fernbach SK, Greene CL, Bigelow PL and Reif JS.  Parental Occupations as Risk Factors for Craniosynostosis in Offspring.  Epidemiology :306-310, 1995.

 23.  Alderman BW, Zamudo S, Baron AE, Joshua SC, Fernbach SK, Greene CL, Mangione EJ.  Increased Risk of Craniosynostosis with Higher Antenatal Maternal Attitude.  Inter Journal of Epidemiology.  24(2):420-426, 1995.

 24.  Alderman BW, Fernbach SK, Greene CL, Mangione EJ, Steslien AI, Ferguson WF.  Diagnostic Practice and the Prevalence of Craniosynostosis in Colorado.  Arch Ped and Adol Med.  151(2):159-164, 1997.

 25.  Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schananen C, Tint GS, Salen G.  Treatment of Smith-Lemli-Opitz syndrom: results of a multicenter trial.  Am J Med Gen 68(3): 311-4, 1997.

 26.  Gardner JS, Guyard Boileau B, Alderman BW, Fernbach SK, Greene CL and Mangione EJ.  Maternal exposure to prescription and non-prescription pharmaceuticals and drugs of abuse and risk of craniosynostosis.  Int J of Epidemiology 27(1): 64-7, 1998.

 27.  Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, and Chou JY.  Methionine Adenosyltransferase I/III Deficiency: Novel Mutations and Clincal Variations.  Am J Hum Gen. 66(2): 347-55, 2000.

 28.  Thomas JA, Bernstein LE, Greene CL and Koeller DM.  Apparent decreased caloric requirements in children with organic acidemias: preliminary observations.  J Amer Dietetic Assoc.  100(9): 10074-6, 2000. 

 29.  Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL and Ward JC.  Markedly elevated serum biotinidase activity helps diagnose Glycogen Storage Disease Type Ia.  J Inher Metab Dis 26: 805-809, 2003. 

 30.  Chen B and total of 36 authors including Greene CL as a middle author.  Developing a Sustainable Process to Provide Quality Control Material for Genetic Testing.  Genetics In Medicine 7(8): 534-549, 2005.

 31.  Grosse SD, Khoury MJ, Greene CL, Crider, KS and Politt, RJ.  The Epidemiology of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): An Update.  Genetics in Medicine, 8(4):205-212, April 2006.

 32.  Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D,  Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, and Braverman N. Clinical and Molecular Analysis of Arylsulfatase E in Patients with Brachytelephalangic Chondrodysplasia Punctata.  American Journal of Medical Gentics Part A, 146A (8): 997-1008, April 15, 2008.

 33.  Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Hinman AR, Greene CL, Kus C, Miller J,  Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR.  Long-Term Follow-Up After Diagnosis Resulting From Newborn Screening: Statement of the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.  Genetics in Medicine 10(4): 259-261, April 2008.

34. Barshop, BA and Greene, CL.  Laboratory Referral Practices in Biochemical Genetics in the United States.  Molecular Genetics and Metabolism [IEM Digest] 98(1-2): 149-151, 2009

35. Chen B and Greene C.  Promoting Quality of Genetic Testing with Guidelines for Good Laboratory Practice.  Molecular Genetics and Metabolism [IEM Digest] 99(3); 238-243, 2010

36. Meekins J, Butler M, Skinner M, Shippy R, Greene C and Ning Y:  Microarray detection of an unbalanced t(4;13) translocation narrows down the trisomy 13 associated polydactyly to a 7 Mb region.  Am J Med Genet 152A(11): 2906-7, Nov 2010

37 Schmidt JL, Castellanos-Brown K, Childress S, Bonhomme N, Oktay J, Terry SF, Kyler P, Davidoff A and Greene C, The Impact of False Positive Newborn Screening Results on Families: A Qualitative Study.  Genetics In Medicine 14(1): 76-80, Jan 2012.

38. Berry A, Kenney MK, Harris KBA, Singh RH, Cameron CA, Karszewski JN, Levy-Fisch J,  Shuger JF, Greene CL, Lloyd-Puryear MA, Boyle CA:  Insurance coverage of medical foods for treatment of inherited metabolic disorders.  Genetics in Medicine (2013) Online publication April 18, 2013  doi:10.1038/gim.2013.45

39. Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J and Cederbaum S. Newborn Screening 50 Years Later:  Access Issues Faced by Adults with PKU.  Genetics in Medicine August 2013:15(88):591-599

40. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM and Saneto  R for the Mitochondrial Medicine Society Clinical Directors Working Group (with C Greene as member of the Working Group and participating in writing of paper, authorship listed in indexing).  Practice Patterns of Mitochondrial Disease Physicians in North America.  Part 1: Diagnostic and Clinical Challenges.  Mitochondrion 14(1): 26-33, Jan 2014 (electronic publication July 26 2013). 

41. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM and Saneto  R for the Mitochondrial Medicine Society Clinical Directors Working Group (with C Greene as member of the Working Group and participating in writing of paper, authorship listed in indexing).  Part 2: Treatment, Care and Management.  Mitochondrion 13 (6) 681-687; Nov 2013 (electronic publication Sept 21, 2013)

42. Nguyen R, Kim J, Shet N, D’Othee BMJ and Greene C.  A 2 year old boy with knee pain, fever and multiple birthmarks.  Clinical Pediatrics  53(1): 98-100, Jan 2014

43. Camp KM, Parisi MA et al (with Greene C as one of a number of co-authors).  Phenylketonuria Scientific Review Conference: State of the Science and Future Research Needs.  Molecular Genetics and Metabolism. Mol Genet Metab 112(2): 87-122 June 2014 and online since 3/6/2014 @

44.  Parikh S; with Greene C as one of 18 coauthors.  Diagnosis and Management of Mitochondrial Disease:  A Consensus Statement from the Mitochondrial Medicine Society.  Genetics in Medicine .  Genet Med 17(9): 689-701, 2015 (and advance online publication, December 11, 2014; doi:10.1038/gim.2014.177)

45.Jaiyeola PJ, El-Metwally D, Viscardi RM, Greene C, Woo HC. Congenital Hypoventilation Syndrome and Hirschsprung’s Disease: A case Presentation of a Rare Syndrome Presenting in a Newborn Infant.  Journal of Neonatal-Perinatal Medicine 8(2): 165-8, 2015

46. Hinton CF, Homer CJ, Thompson AA, Williams A, Hassell KL, Feuchtbaum L, Berry SA, Comeau AM, Therrell BL, Brower A, Harris KB, Brown C, Monaco J, Ostrander RJ, Zuckerman AE, Kaye C, Dougherty D, Greene C, Green NS and the Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).  A framework for assessing outcomes from newborn screening: on the road to measuring its promise.  Molecular Genetics and Metabolism; preliminarily electronically published May 2016 doi:10.1016/j.ymgme.2016.05.017

47. Schillaci LA, Greene C, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns G, Gallagher R, Zinn A, McCandless S, Hoppel C, Goodman S and Bedoyan J,.  THE M405V ALLELE OF THE GLUTARYL-COA DEHYDROGENASE GENE IS COMMON AMONG GLUTARIC ACIDURIA TYPE I (GA-I) LOW EXCRETORS.  Molecular Genetics and Metabolism; preliminarily electronically published June 2016.  doi:10.1016/j.ymgme.2016.06.012

48. In Press:  Chen B, Shahangian S, Yesupriya A, Greene C, Curry VJ, Zehnbauer B.  Evaluation of Diverse Health Professionals’ Learning Experience in a Continuing Education Activity for Quality Practices in Molecular Genetic Testing.  JCEHP. 

Research Interests

Newborn screening;

quality of genetic testing;

access to genetic services;

education/training in genetics

Clinical Specialty Details

General clinical genetics - all ages; with special focus on inborn errors of metabolism; also cardio-genetics, heme/onc-genetics and cleft palate team participatoin 

Board Certification:  1984 American Board of Medical Genetics 1) Clinical Genetics and 2) Cytogenetics

1982 American Board of Pediatrics

Awards and Affiliations

Best Doctors in America 1994 – Present

Baltimore "Top Docs" 2007, 2010-14, 2016

2010 Alexander J Shaffer Teaching Award for outstanding contributions to housestaff education presented by the Pediatric Housestaff of the University of Maryland School of Medicine

Member/Founding Fellow American College of Medical Genetics and Genomics

Fellow American Academy of Pediatrics

Member/Past President Society for Inherited Metabolic Disorders

Member Society for the Study of Inborn Errors of Metabolism

Member Mitochondrial Medicine Society

Grants and Contracts

IPA with CDC 20% time

Community Service

Current Service Includes:

Steering Committee Baby's First Test (a HRSA funded program of the Genetic Alliance)

Liaison Representative from Society for Inherited Metabolic Disorders to the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children and member of Long-Term Follow up and Treatment Workgroup 

Professional Activity

Past-President Society for Inherited Metabolic Disorders and member of Public Affairs Committee

Past member American Academy of Pediatrics Section on Genetics Steering Committee