Debra E Weese-Mayer

  • Professor, Pediatrics
  • Beatrice Cummings Mayer Professorship in Pediatric Autonomic Medicine, Pediatrics
  • 7357 Citations
1985 …2021

Research output per year

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Research Output

2006

Congenital Central Hypoventilation Syndrome: Update, Diagnosis, and Management

Kenny, AS. & Weese-Mayer, DE., 2006, Clinician’s Guide to Pediatric Sleep Disorders. Richardson, MA. & Friedman, N. (eds.). New York: Marcel Dekker, Inc., p. 255-267

Research output: Chapter in Book/Report/Conference proceedingChapter

Congenital central hypoventilation syndrome PHOX2B mutations and phenotype

Berry-Kravis, E. M., Zhou, L., Rand, C. M. & Weese-Mayer, D. E., Nov 15 2006, In : American journal of respiratory and critical care medicine. 174, 10, p. 1139-1144 6 p.

Research output: Contribution to journalArticle

159 Scopus citations

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: Quantitative pattern of dysmorphology

Todd, E. S., Weinberg, S. M., Berry-Kravis, E. M., Silvestri, J. M., Kenny, A. S., Rand, C. M., Zhou, L., Maher, B. S., Marazita, M. L. & Weese-Mayer, D. E., Jan 1 2006, In : Pediatric research. 59, 1, p. 39-45 7 p.

Research output: Contribution to journalArticle

37 Scopus citations

Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome

Rand, C. M., Weese-Mayer, D. E., Maher, B. S., Zhou, L., Marazita, M. L. & Berry-Kravis, E. M., Jul 1 2006, In : American Journal of Medical Genetics, Part A. 140, 13, p. 1447-1452 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Pediatric autonomic disorders

Axelrod, F. B., Chelimsky, G. G. & Weese-Mayer, D. E., Jul 1 2006, In : Pediatrics. 118, 1, p. 309-321 13 p.

Research output: Contribution to journalReview article

75 Scopus citations

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Antic, N. A., Malow, B. A., Lange, N., McEvoy, R. D., Olson, A. L., Turkington, P., Windisch, W., Samuels, M., Stevens, C. A., Berry-Kravis, E. M. & Weese-Mayer, D. E., Oct 15 2006, In : American journal of respiratory and critical care medicine. 174, 8, p. 923-927 5 p.

Research output: Contribution to journalArticle

85 Scopus citations

Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene [3]

Rand, C. M., Weese-Mayer, D. E., Zhou, L., Maher, B. S., Cooper, M. E., Marazita, M. L. & Berry-Kravis, E. M., Aug 1 2006, In : American Journal of Medical Genetics, Part A. 140, 15, p. 1687-1691 5 p.

Research output: Contribution to journalLetter

24 Scopus citations

Sudden infant death syndrome: Is serotonin the key factor?

Weese-Mayer, D. E., Nov 1 2006, In : Journal of the American Medical Association. 296, 17, p. 2143-2144 2 p.

Research output: Contribution to journalEditorial

6 Scopus citations
2007

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

Ize-Ludlow, D., Gray, J. A., Sperling, M. A., Berry-Kravis, E. M., Milunsky, J. M., Farooqi, I. S., Rand, C. M. & Weese-Mayer, D. E., Jul 1 2007, In : Pediatrics. 120, 1, p. e179-e188

Research output: Contribution to journalArticle

93 Scopus citations

Sudden infant death syndrome: Another year of new hope but no cure

Loghmanee, D. A. & Weese-Mayer, D. E., Nov 1 2007, In : Current Opinion in Pulmonary Medicine. 13, 6, p. 497-504 8 p.

Research output: Contribution to journalReview article

2 Scopus citations

Sudden infant death syndrome: Rare mutation in the serotonin system FEV gene

Rand, C. M., Berry-Kravis, E. M., Zhou, L., Fan, W. & Weese-Mayer, D. E., Aug 1 2007, In : Pediatric research. 62, 2, p. 180-182 3 p.

Research output: Contribution to journalArticle

32 Scopus citations

Sudden Infant Death Syndrome: Review of implicated genetic factors

Weese-Mayer, D. E., Ackerman, M. J., Marazita, M. L. & Berry-Kravis, E. M., Apr 15 2007, In : American Journal of Medical Genetics, Part A. 143, 8, p. 771-788 18 p.

Research output: Contribution to journalReview article

102 Scopus citations

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome

Diedrich, A., Malow, B. A., Antic, N. A., Sato, K., McEvoy, R. D., Mathias, C. J., Robertson, D., Berry-Kravis, E. M. & Weese-Mayer, D. E., Jun 1 2007, In : Clinical Autonomic Research. 17, 3, p. 177-185 9 p.

Research output: Contribution to journalArticle

22 Scopus citations
2008

Authors' reply

Gronli, J. O., Santucci, B. A., Berry-Kravis, E. M., Leurgans, S. E. & Weese-Mayer, D. E., Dec 1 2008, In : Pediatric Pulmonology. 43, 12, 1 p.

Research output: Contribution to journalLetter

Autonomic dysregulation in young girls with rett syndrome during nighttime in-home recordings

Weese-Mayer, D. E., Lieske, S. P., Boothby, C. M., Kenny, A. S., Bennett, H. L. & Ramirez, J. M., Nov 1 2008, In : Pediatric Pulmonology. 43, 11, p. 1045-1060 16 p.

Research output: Contribution to journalArticle

71 Scopus citations

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Gronli, J. O., Santucci, B. A., Leurgans, S. E., Berry-Kravis, E. M. & Weese-Mayer, D. E., Jan 1 2008, In : Pediatric Pulmonology. 43, 1, p. 77-86 10 p.

Research output: Contribution to journalArticle

74 Scopus citations

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): Kindred disorders of autonomic regulation

Weese-Mayer, D. E., Berry-Kravis, E. M., Ceccherini, I. & Rand, C. M., Dec 10 2008, In : Respiratory Physiology and Neurobiology. 164, 1-2, p. 38-48 11 p.

Research output: Contribution to journalArticle

38 Scopus citations

Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep

Weese-Mayer, D. E., Kenny, A. S., Bennett, H. L., Ramirez, J. M. & Leurgans, S. E., Jan 1 2008, In : Pediatric Pulmonology. 43, 3, p. 251-260 10 p.

Research output: Contribution to journalArticle

18 Scopus citations

Familial dysautonomia: Frequent, prolonged and severe hypoxemia during wakefulness and sleep (Pediatric Pulmonology (2008) 43, 3, (251-260) DOI: 10.1002/ppul.20764

Weese-Mayer, D. E., Kenny, A. S., Bennett, H. L., Ramirez, J. M. & Leurgans, S. E., Jun 1 2008, In : Pediatric Pulmonology. 43, 6, p. 624-625 2 p.

Research output: Contribution to journalComment/debate

Genetic variation in the HTR1A gene and sudden infant death syndrome

Morley, M. E., Rand, C. M., Berry-Kravis, E. M., Zhou, L., Fan, W. & Weese-Mayer, D. E., Apr 1 2008, In : American Journal of Medical Genetics, Part A. 146, 7, p. 930-933 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

Precursors of cardiorespiratory events in infants detected by home memory monitor

Hunt, C. E., Corwin, M. J., Lister, G., Weese-Mayer, D. E., Ward, S. L. D., Tinsley, L. R., Neuman, M. R., Willinger, M., Ramanathan, R. & Rybin, D., Jan 1 2008, In : Pediatric Pulmonology. 43, 1, p. 87-98 12 p.

Research output: Contribution to journalArticle

18 Scopus citations

Sudden infant death syndrome: The genetic segue?

Weese-Mayer, D. E., Jul 1 2008, In : Acta Paediatrica, International Journal of Paediatrics. 97, 7, p. 846-847 2 p.

Research output: Contribution to journalComment/debate

4 Scopus citations

Sudden infant death syndrome: Genetic studies in cardiorespiratory and autonomic regulation

Weese-Mayer, D. E., Berry-Kravis, E. M., Ackerman, M. J. & Marazita, M. L., Jan 1 2008, Sleep and Breathing in Children: Developmental Changes in Breathing During Sleep, Second Edition. CRC Press, Vol. 224. p. 224-313 90 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Sudden Infant Death Syndrome: Cardiorespiratory Regulation Genes

Weese-Mayer, DE., Ackerman, MJ., Berry-Kravis, EM. & Marazita, ML., 2008, Breathing During Sleep in Children, 2nd edition. Marcus, C., Loughlin, G., Carroll, J. & Donnelly, D. (eds.). New York: Informa Healthcare, p. 293-313

Research output: Chapter in Book/Report/Conference proceedingChapter

Sudden Infant Death Syndrome: Study of Genes Pertinent to Cardiorespiratory and Autonomic Regulation

Weese-Mayer, DE., Ackerman, MJ., Marazita, ML. & Berry-Kravis, EM., 2008, Genetic Basis for Respiratory Control Disorders. Gaultier, C. (ed.). New York: Springer U.S., p. 85-109

Research output: Chapter in Book/Report/Conference proceedingChapter

2009

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Weese-Mayer, D. E., Rand, C. M., Berry-Kravis, E. M., Jennings, L. J., Loghmanee, D. A., Patwari, P. P. & Ceccherini, I., Jun 1 2009, In : Pediatric Pulmonology. 44, 6, p. 521-535 15 p.

Research output: Contribution to journalReview article

67 Scopus citations

HTR2A variation and sudden infant death syndrome: A case-control analysis

Rand, C. M., Berry-Kravis, E. M., Fan, W. & Weese-Mayer, D. E., Jan 1 2009, In : Acta Paediatrica, International Journal of Paediatrics. 98, 1, p. 58-61 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Repetto, G. M., Corrales, R. J., Abara, S. G., Zhou, L., Berry-Kravis, E. M., Rand, C. M. & Weese-Mayer, D. E., Jan 1 2009, In : Acta Paediatrica, International Journal of Paediatrics. 98, 1, p. 192-195 4 p.

Research output: Contribution to journalArticle

36 Scopus citations

Medullary serotonin defects and respiratory dysfunction in sudden infant death syndrome

Paterson, D. S., Hilaire, G. & Weese-Mayer, D. E., Aug 31 2009, In : Respiratory Physiology and Neurobiology. 168, 1-2, p. 133-143 11 p.

Research output: Contribution to journalArticle

40 Scopus citations

Sudden infant death syndrome (SIDS) in African Americans: Polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP)

Cummings, K. J., Klotz, C., Liu, W. Q., Weese-Mayer, D. E., Marazita, M. L., Cooper, M. E., Berry-Kravis, E. M., Tobias, R., Goldie, C., Bech-Hansen, N. T. & Wilson, R. J. A., Mar 1 2009, In : Acta Paediatrica, International Journal of Paediatrics. 98, 3, p. 482-489 8 p.

Research output: Contribution to journalArticle

17 Scopus citations

Sudden infant death syndrome and sudden intrauterine unexplained death: Correlation between hypoplasia of raphé nuclei and serotonin transporter gene promoter polymorphism

Lavezzi, A. M., Casale, V., Oneda, R., Weese-Mayer, D. E. & Matturri, L., Jul 1 2009, In : Pediatric Research. 66, 1, p. 22-27 6 p.

Research output: Contribution to journalArticle

32 Scopus citations
2010

An official ATS clinical policy statement: Congenital central hypoventilation syndrome - Genetic basis, diagnosis, and management

Weese-Mayer, D. E., Berry-Kravis, E. M., Ceccherini, I., Keens, T. G., Loghmanee, D. A. & Trang, H., Mar 15 2010, In : American Journal of Respiratory and Critical Care Medicine. 181, 6, p. 626-644 19 p.

Research output: Contribution to journalReview article

252 Scopus citations

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation

Carroll, M. S., Patwari, P. P. & Weese-Mayer, D. E., Apr 1 2010, In : Journal of applied physiology. 108, 4, p. 979-988 10 p.

Research output: Contribution to journalReview article

21 Scopus citations

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers

Jennings, L. J., Yu, M., Zhou, L., Rand, C. M., Berry-Kravis, E. M. & Weese-Mayer, D. E., Dec 1 2010, In : Diagnostic Molecular Pathology. 19, 4, p. 224-231 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

Congenital central hypoventilation syndrome

Patwari, PP., Lareau, S., Sockrider, M. & Weese-Mayer, DE., 2010, In : Am J Respir Crit Care Med. 182, p. 4-5 2 p.

Research output: Contribution to journalArticle

Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children

Zelko, F. A., Nelson, M. N., Leurgans, S. E., Berry-Kravis, E. M. & Weese-Mayer, D. E., Jan 1 2010, In : Pediatric Pulmonology. 45, 1, p. 92-98 7 p.

Research output: Contribution to journalArticle

32 Scopus citations

Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

Patwari, P. P., Carroll, M. S., Rand, C. M., Kumar, R., Harper, R. & Weese-Mayer, D. E., Oct 1 2010, In : Respiratory Physiology and Neurobiology. 173, 3, p. 322-335 14 p.

Research output: Contribution to journalReview article

44 Scopus citations
2011

Congenital central hypoventilation syndrome

Weese-Mayer, DE., Marazita, ML., Berry-Kravis, EM. & Patwari, PP., 2011, In : GeneReviews at GeneTests: Medical Genetics Information Resource. November

Research output: Contribution to journalArticle

Congenital Central Hypoventilation Syndrome

Weese-Mayer, DE., Patwari, PP., Caroll, MS. & Rand, CM., 2011, Sleep in Childhood Neurological Disorders Neurological Disorders. Kothare, S. & Kotagal, S. (eds.). New York: Demos, p. 295-312

Research output: Chapter in Book/Report/Conference proceedingChapter

Congenital central hypoventilation syndrome, rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation, and diaphragm pacing

Noah, Z., Budeck, C., Patwari, PP. & Weese-Mayer, DE., 2011, Nelson Textbook of Pediatrics. Kliegman, RM., Stanton, BF., Schor, NC., St. Geme III, JW. & Behrman, RE. (eds.). Philadelphia: Elsevier-Saunders, p. 1520-1522

Research output: Chapter in Book/Report/Conference proceedingChapter

Longitudinal assessment of hemoglobin oxygen saturation in preterm and term infants in the first six months of life

Hunt, C. E., Corwin, M. J., Weese-Mayer, D. E., Davidson Ward, S. L., Ramanathan, R., Lister, G., Tinsley, L. R., Heeren, T. & Rybin, D., Sep 2011, In : Journal of Pediatrics. 159, 3, p. 377-383.e1

Research output: Contribution to journalArticle

28 Scopus citations

Monozygotic twins discordant for ROHHAD phenotype

Patwari, P. P., Rand, C. M., Berry-Kravis, E. M., Ize-Ludlow, D. & Weese-Mayer, D. E., Sep 1 2011, In : Pediatrics. 128, 3

Research output: Contribution to journalArticle

25 Scopus citations

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: Analysis of hypothalamic and autonomic candidate genes

Rand, C. M., Patwari, P. P., Rodikova, E. A., Zhou, L., Berry-Kravis, E. M., Wilson, R. J. A., Bech-Hansen, T. & Weese-Mayer, D. E., Oct 1 2011, In : Pediatric research. 70, 4, p. 375-378 4 p.

Research output: Contribution to journalArticle

38 Scopus citations
2012

A Commentary on the importance of knowing from whence your PHOX2B mutation comes

Rand, C. M. & Weese-Mayer, D. E., Jun 1 2012, In : Journal of Human Genetics. 57, 6, p. 345-346 2 p.

Research output: Contribution to journalComment/debate

A triple threat: Down syndrome, congenital central hypoventilation syndrome, and hirschsprung disease

Jones, K. L., Pivnick, E. K., Hines-Dowell, S., Weese-Mayer, D. E., Berry-Kravis, E. M., Santiago, T., Nnorom, C. & Pourcyrous, M., Nov 1 2012, In : Pediatrics. 130, 5

Research output: Contribution to journalArticle

5 Scopus citations

Congenital Central Hypoventilation Syndrome (CCHS) and PHOX2B Mutations

Weese-Mayer, D. E., Patwari, P. P., Rand, C. M., Diedrich, A. A., Kuntz, N. L. & Berry-Kravis, E. M., Dec 1 2012, Primer on the Autonomic Nervous System. Elsevier Inc, p. 445-449 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations

Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death

Lavezzi, A. M., Weese-Mayer, D. E., Yu, M. Y., Jennings, L. J., Corna, M. F., Casale, V., Oneda, R. & Matturri, L., Sep 25 2012, In : Autonomic Neuroscience: Basic and Clinical. 170, 1-2, p. 12-19 8 p.

Research output: Contribution to journalArticle

29 Scopus citations

Diaphragmatic pacing in infants and children with congenital central hypoventilation syndrome (CCHS)

Chin, AC., Kheirandish-Gozal, L., Shaul, DB., Patwari, PP., Keens, TG., Kenny, AS. & Weese-Mayer, DE., 2012, Sleep Disordered Breathing in Children: A Clinical Guide. Gozal, D. (ed.). New York, NY: Springer Press, p. 553-573

Research output: Chapter in Book/Report/Conference proceedingChapter

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

Rand, C. M., Yu, M., Jennings, L. J., Panesar, K., Berry-Kravis, E. M., Zhou, L. & Weese-Mayer, D. E., Sep 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 9, p. 2297-2301 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Pupillometry in congenital central hypoventilation syndrome (CCHS): Quantitative evidence of autonomic nervous system dysregulation

Patwari, P. P., Stewart, T. M., Rand, C. M., Carroll, M. S., Kuntz, N. L., Kenny, A. S., Brogadir, C. D. & Weese-Mayer, D. E., Mar 1 2012, In : Pediatric research. 71, 3, p. 280-285 6 p.

Research output: Contribution to journalArticle

25 Scopus citations