Debra E Weese-Mayer

  • Professor, Pediatrics
  • Beatrice Cummings Mayer Professorship in Pediatric Autonomic Medicine, Pediatrics
  • 7405 Citations
1985 …2020

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Research Output

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Article
2020

Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome

Carroll, M. S., Ramirez, J. M. & Weese-Mayer, D. E., Jan 1 2020, (Accepted/In press) In : Journal of medical genetics.

Research output: Contribution to journalArticle

Pupillometry measures of autonomic nervous system regulation with advancing age in a healthy pediatric cohort

Winston, M., Zhou, A., Rand, C. M., Dunne, E. C., Warner, J. J., Volpe, L. J., Pigneri, B. A., Simon, D., Bielawiec, T., Gordon, S. C., Vitez, S. F., Charnay, A., Joza, S., Kelly, K., Panicker, C., Rizvydeen, S., Niewijk, G., Coleman, C., Scher, B. J., Reed, D. W. & 10 others, Hockney, S. M., Buniao, G., Stewart, T., Trojanowski, L., Brogadir, C., Price, M., Kenny, A. S., Bradley, A., Volpe, N. J. & Weese-Mayer, D. E., Feb 1 2020, In : Clinical Autonomic Research. 30, 1, p. 43-51 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Skin-interfaced biosensors for advanced wireless physiological monitoring in neonatal and pediatric intensive-care units

Chung, H. U., Rwei, A. Y., Hourlier-Fargette, A., Xu, S., Lee, K. H., Dunne, E. C., Xie, Z., Liu, C., Carlini, A., Kim, D. H., Ryu, D., Kulikova, E., Cao, J., Odland, I. C., Fields, K. B., Hopkins, B., Banks, A., Ogle, C., Grande, D., Park, J. B. & 42 others, Kim, J., Irie, M., Jang, H., Lee, J. H., Park, Y., Kim, J., Jo, H. H., Hahm, H., Avila, R., Xu, Y., Namkoong, M., Kwak, J. W., Suen, E., Paulus, M. A., Kim, R. J., Parsons, B. V., Human, K. A., Kim, S. S., Patel, M., Reuther, W., Kim, H. S., Lee, S. H., Leedle, J. D., Yun, Y., Rigali, S., Son, T., Jung, I., Arafa, H., Soundararajan, V. R., Ollech, A., Shukla, A., Bradley, A., Schau, M., Rand, C. M., Marsillio, L. E., Harris, Z. L., Huang, Y., Hamvas, A., Paller, A. S., Weese-Mayer, D. E., Lee, J. Y. & Rogers, J. A., Mar 1 2020, In : Nature Medicine. 26, 3, p. 418-429 12 p.

Research output: Contribution to journalArticle

3 Scopus citations
2019
1 Scopus citations

Binodal, wireless epidermal electronic systems with in-sensor analytics for neonatal intensive care

Chung, H. U., Kim, B. H., Lee, J. Y., Lee, J., Xie, Z., Ibler, E. M., Lee, K. H., Banks, A., Jeong, J. Y., Kim, J., Ogle, C., Grande, D., Yu, Y., Jang, H., Assem, P., Ryu, D., Kwak, J. W., Namkoong, M., Park, J. B., Lee, Y. & 25 others, Kim, D. H., Ryu, A., Jeong, J., You, K., Ji, B., Liu, Z., Huo, Q., Feng, X., Deng, Y., Xu, Y., Jang, K. I., Kim, J., Zhang, Y., Ghaffari, R., Rand, C. M., Schau, M., Hamvas, A., Weese-Mayer, D. E., Huang, Y., Lee, S. M., Lee, C. H., Shanbhag, N. R., Paller, A. S., Xu, S. & Rogers, J. A., Jan 1 2019, In : Science. 363, 6430

Research output: Contribution to journalArticle

Open Access
46 Scopus citations

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Sivan, Y., Zhou, A., Jennings, L. J., Berry-Kravis, E. M., Yu, M., Zhou, L., Rand, C. M. & Weese-Mayer, D. E., Mar 2019, In : American Journal of Medical Genetics, Part A. 179, 3, p. 503-506 4 p.

Research output: Contribution to journalArticle

Pre-Vent: the prematurity-related ventilatory control study

Dennery, P. A., Di Fiore, J. M., Ambalavanan, N., Bancalari, E., Carroll, J. L., Claure, N., Hamvas, A., Hibbs, A. M., Indic, P., Kemp, J., Krahn, K. N., Lake, D., Laposky, A., Martin, R. J., Natarajan, A., Rand, C., Schau, M., Weese-Mayer, D. E., Zimmet, A. M. & Moorman, J. R., May 1 2019, In : Pediatric research. 85, 6, p. 769-776 8 p.

Research output: Contribution to journalArticle

3 Scopus citations
2018

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis

Brooks, E. R., Deng, F., Weese-Mayer, D. E., Kuntz, N. L. & Langman, C. B., Nov 1 2018, In : Kidney International Reports. 3, 6, p. 1489-1496 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Congenital central hypoventilation syndrome: Broader cognitive deficits revealed by parent controls

Zelko, F. A., Stewart, T. M., Brogadir, C. D., Rand, C. M. & Weese-Mayer, D. E., Apr 1 2018, In : Pediatric Pulmonology. 53, 4, p. 492-497 6 p.

Research output: Contribution to journalArticle

6 Scopus citations

Novel methods of imaging and analysis for the thermoregulatory sweat test

Carroll, M. S., Reed, D. W., Kuntz, N. L. & Weese-Mayer, D. E., Sep 2018, In : Journal of applied physiology. 125, 3, p. 755-762 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

ROHHAD and Prader-Willi syndrome (PWS): Clinical and genetic comparison

Barclay, S. F., Rand, C. M., Nguyen, L., Wilson, R. J. A., Wevrick, R., Gibson, W. T., Bech-Hansen, N. T. & Weese-Mayer, D. E., Jul 20 2018, In : Orphanet journal of rare diseases. 13, 1, 124.

Research output: Contribution to journalArticle

2017

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Spielmann, M., Hernandez-Miranda, L. R., Ceccherini, I., Weese-Mayer, D. E., Kragesteen, B. K., Harabula, I., Krawitz, P., Birchmeier, C., Leonard, N. & Mundlos, S., Nov 1 2017, In : Journal of medical genetics. 54, 11, p. 754-761 8 p.

Research output: Contribution to journalArticle

5 Scopus citations
2016

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD

Barclay, S. F., Rand, C. M., Gray, P. A., Gibson, W. T., Wilson, R. J. A., Berry-Kravis, E. M., Ize-Ludlow, D., Bech-Hansen, N. T. & Weese-Mayer, D. E., Jan 15 2016, In : Respiratory Physiology and Neurobiology. 221, p. 59-63 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation

Saiyed, R., Rand, C. M., Carroll, M. S., Koliboski, C. M., Stewart, T. M., Brogadir, C. D., Kenny, A. S., Petersen, E. K. E., Carley, D. W. & Weese-Mayer, D. E., Mar 1 2016, In : Pediatric Pulmonology. 51, 3, p. 300-307 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Congenital central hypoventilation syndrome neurocognition already reduced in preschool-aged children

Charnay, A. J., Antisdel-Lomaglio, J. E., Zelko, F. A., Rand, C. M., Le, M., Gordon, S. C., Vitez, S. F., Tse, J. W., Brogadir, C. D., Nelson, M. N., Berry-Kravis, E. M. & Weese-Mayer, D. E., Mar 2016, In : CHEST. 149, 3, p. 809-815 7 p.

Research output: Contribution to journalArticle

17 Scopus citations

Determining peripheral skin temperature: Subjective versus objective measurements

Tse, J., Rand, C., Carroll, M., Charnay, A., Gordon, S., Morales, B., Vitez, S., Le, M. & Weese-Mayer, D., Mar 1 2016, In : Acta Paediatrica, International Journal of Paediatrics. 105, 3, p. e126-e131

Research output: Contribution to journalArticle

9 Scopus citations

Stillbirth: Correlations between brain injury and placental pathology

Ernst, L. M., Bit-Ivan, E. N., Miller, E. S., Minturn, L., Bigio, E. H. & Weese-Mayer, D. E., May 1 2016, In : Pediatric and Developmental Pathology. 19, 3, p. 237-243 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Stillbirth evaluation: A stepwise assessment of placental pathology and autopsy

Miller, E. S., Minturn, L., Linn, R., Weese-Mayer, D. E. & Ernst, L. M., Jan 1 2016, In : American journal of obstetrics and gynecology. 214, 1, p. 115.e1-115.e6

Research output: Contribution to journalArticle

20 Scopus citations

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome

Nobuta, H., Cilio, M. R., Danhaive, O., Tsai, H. H., Tupal, S., Chang, S. M., Murnen, A., Kreitzer, F., Bravo, V., Czeisler, C., Gokozan, H. N., Gygli, P., Bush, S., Weese-Mayer, D. E., Conklin, B., Yee, S. P., Huang, E. J., Gray, P. A., Rowitch, D. & Otero, J. J., Aug 25 2015, In : Acta Neuropathologica. 130, 2, p. 171-183 13 p.

Research output: Contribution to journalArticle

25 Scopus citations

Hyperthyroidism hidden by congenital central hypoventilation syndrome

Fox, D. A., Weese-Mayer, D. E., Wensley, D. F. & Stewart, L. L., May 1 2015, In : Journal of Pediatric Endocrinology and Metabolism. 28, 5-6, p. 705-708 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges

Carroll, M. S., Patwari, P. P., Kenny, A. S., Brogadir, C. D., Stewart, T. M. & Weese-Mayer, D. E., Dec 1 2015, In : Pediatric Pulmonology. 50, 12, p. 1336-1345 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Exome sequencing of trios, monozygotic twins and tumours

Barclay, S. F., Rand, C. M., Borch, L. A., Nguyen, L., Gray, P. A., Gibson, W. T., Wilson, R. J. A., Gordon, P. M. K., Aung, Z., Berry-Kravis, E. M., Ize-Ludlow, D., Weese-Mayer, D. E. & Bech-Hansen, N. T., Aug 25 2015, In : Orphanet journal of rare diseases. 10, 1, 314.

Research output: Contribution to journalArticle

19 Scopus citations

Stillbirth: Genome-wide copy number variation profiling in archived placental umbilical cord samples with pathologic and clinical correlation

Ernst, L. M., Rand, C. M., Bao, R., Andrade, J., Linn, R. L., Minturn, L., Zhang, C., Kang, W. & Weese-Mayer, D. E., Aug 1 2015, In : Placenta. 36, 8, p. 783-789 7 p.

Research output: Contribution to journalArticle

4 Scopus citations

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Armstrong, A. E., Weese-Mayer, D. E., Mian, A., Maris, J. M., Batra, V., Gosiengfiao, Y., Reichek, J., Madonna, M. B., Bush, J. W., Shore, R. M. & Walterhouse, D. O., Nov 1 2015, In : Pediatric Blood and Cancer. 62, 11, p. 2007-2010 4 p.

Research output: Contribution to journalArticle

5 Scopus citations
2014

Pupillometry in clinical care: New procedure code 0341T 15

Weese-Mayer, DE., Ali, FN. & Stewart, TM., Sep 2014, In : American Academy of Pediatrics Coding Newletter. Available at http://coding.aap.org/content.aspx

Research output: Contribution to journalArticle

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome

Carroll, M. S., Patwari, P. P., Kenny, A. S., Brogadir, C. D., Stewart, T. M. & Weese-Mayer, D. E., Feb 15 2014, In : Journal of Applied Physiology. 116, 4, p. 439-450 12 p.

Research output: Contribution to journalArticle

23 Scopus citations
2013

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome

Barrett, K. T., Rodikova, E., Weese-Mayer, D. E., Rand, C. M., Marazita, M. L., Cooper, M. E., Berry-Kravis, E. M., Bech-Hansen, N. T. & Wilson, R. J. A., Dec 1 2013, In : Acta Paediatrica, International Journal of Paediatrics. 102, 12, p. e546-e552

Research output: Contribution to journalArticle

6 Scopus citations

Congenital central hypoventilation syndrome

Gordon, SC., Rand, CM. & Weese-Mayer, DE., 2013, In : National Organization for Rare Disorders.

Research output: Contribution to journalArticle

Congenital central hypoventilation syndrome & sudden infant death syndrome: Disorders of autonomic regulation

Rand, CM., Patwari, PP., Carroll, MS. & Weese-Mayer, DE., Feb 2013, In : Seminars in Pediatric Neurology. 20, p. 44-55 12 p.

Research output: Contribution to journalArticle

Congenital Central Hypoventilation Syndrome and Sudden Infant Death Syndrome: Disorders of Autonomic Regulation

Rand, C. M., Patwari, P. P., Carroll, M. S. & Weese-Mayer, D. E., Mar 1 2013, In : Seminars in Pediatric Neurology. 20, 1, p. 44-55 12 p.

Research output: Contribution to journalArticle

17 Scopus citations

Édition française de la Déclaration officielle depolitique clinique de l'American Thoracic Society(ATS) sur le syndrome d'hypoventilation alvéolairecentrale congénitale. Bases génétiques, diagnostic etprise en charge

Translated title of the contribution: ATS clinical policy statement: Congenital central hypoventilation syndrome.Genetic basis, diagnosis and managementWeese-Mayer, D. E., Berry-Kravis, E. M., Ceccherini, I., Keens, T. G., Loghmanee, D. A. & Trang, H., Jan 1 2013, In : Revue des Maladies Respiratoires. 30, 8, p. 706-733 28 p.

Research output: Contribution to journalArticle

8 Scopus citations
2012

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

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

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

13 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

Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia

Carroll, M. S., Kenny, A. S., Patwari, P. P., Ramirez, J. M. & Weese-Mayer, D. E., Jul 1 2012, In : Pediatric Pulmonology. 47, 7, p. 682-691 10 p.

Research output: Contribution to journalArticle

15 Scopus citations

Variable human phenotype associated with novel deletions of the PHOX2B gene

Jennings, L. J., Yu, M., Rand, C. M., Kravis, N., Berry-Kravis, E. M., Patwari, P. P. & Weese-Mayer, D. E., Feb 1 2012, In : Pediatric Pulmonology. 47, 2, p. 153-161 9 p.

Research output: Contribution to journalArticle

31 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

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

39 Scopus citations
2010

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: 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

33 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