Debra E Weese-Mayer

  • Professor, Pediatrics
  • Beatrice Cummings Mayer Professorship in Pediatric Autonomic Medicine, Pediatrics
  • 7292 Citations
1985 …2023
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Research Output 1985 2020

2020
1 Citation (Scopus)

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

Autonomic Nervous System
Pupil
Constriction
Pediatrics
Light
2019
Airway Obstruction
Diaphragm
Sleep
Noninvasive Ventilation
Masks
30 Citations (Scopus)

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
Neonatal Intensive Care
Neonatal Intensive Care Units
Skin
Vital Signs
Diagnostic Imaging

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

Homeobox Genes
Hypoventilation
Mutation
Autonomic Nervous System
Rare Diseases
Brain Hypoxia-Ischemia
Documentation
Mortality
Infant Mortality
Inpatients
1 Citation (Scopus)

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

Premature Infants
Oxygen
Bronchopulmonary Dysplasia
Hyperoxia
Hypercapnia
2018
2 Citations (Scopus)

Autonomic Nervous System Dysfunction in Pediatric Sepsis

Badke, C. M., Marsillio, L. E., Weese-Mayer, D. E. & Sanchez-Pinto, L. N., 2018, In : Frontiers in Pediatrics. 6, PMID: 30356758, p. 280-290 11 p.

Research output: Contribution to journalReview article

Autonomic Nervous System
Sepsis
Pediatrics
Body Temperature Regulation
Critical Illness

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis

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

Research output: Contribution to journalArticle

Cystinosis
Autonomic Nervous System
1 Citation (Scopus)
Orthostatic Intolerance
Nausea
Head
Vasopressins
Baroreflex
5 Citations (Scopus)

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

Parents
Vocabulary
Intelligence
Population
Congenital central hypoventilation syndrome
2 Citations (Scopus)

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

Sweat
Sweating
Hot Temperature
Powders
Autonomic Pathways

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

Prader-Willi Syndrome
Hypoventilation
Obesity
Pediatric Obesity
Phenotype

The Pediatric Committee of the American Autonomic Society

On behalf of the Pediatric Committee of the American Autonomic Society, Apr 1 2018, In : Clinical Autonomic Research. 28, 2, p. 171-172 2 p.

Research output: Contribution to journalEditorial

Pediatrics
2017
14 Citations (Scopus)

Congenital central hypoventilation syndrome: A bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life

Weese-Mayer, D. E., Rand, C. M., Zhou, A., Carroll, M. S. & Hunt, C. E., Jan 1 2017, In : Pediatric research. 81, 1-2, p. 192-201 10 p.

Research output: Contribution to journalReview article

Early Diagnosis
Quality of Life
Autonomic Nervous System
Survival
Homeobox Genes
4 Citations (Scopus)

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

Hypoventilation
Mutation
Clustered Regularly Interspaced Short Palindromic Repeats
Mutant Strains Mice
Phenotype
2016
4 Citations (Scopus)

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

Hypoventilation
Obesity
Mutation
Genes
Exons

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

Noah, Z., Budek, C. & Weese-Mayer, DE., 2016, Nelson Textbook of Pediatrics 20th edition. Kliegman, RM., Stanton, BF., Schor, NC., St. Geme III, JW. & Behrman, RE. (eds.). Philadelphia: Elsevier-Saunders

Research output: Chapter in Book/Report/Conference proceedingChapter

10 Citations (Scopus)

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

Skin Temperature
Temperature
Body Temperature
Autonomic Nervous System
Circadian Rhythm
16 Citations (Scopus)

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

Preschool Children
Genotype
Breath Holding
Hypoventilation
Mutation
9 Citations (Scopus)

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

Skin Temperature
Hand
Temperature
Equipment and Supplies
Delivery of Health Care
6 Citations (Scopus)

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

Stillbirth
Brain Injuries
Pathology
Necrosis
Gestational Age
18 Citations (Scopus)

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

Stillbirth
Autopsy
Pathology
Cause of Death
Cohort Studies
24 Citations (Scopus)

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

Locus Coeruleus
Mutation
Hypercapnia
Transgenic Mice
Brain Stem
1 Citation (Scopus)

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

Hyperthyroidism
Hypoventilation
Esophageal Motility Disorders
Nervous System Malformations
Homeobox Genes
8 Citations (Scopus)

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

Hypoventilation
Obesity
Gases
Hypercapnia
Comorbidity
18 Citations (Scopus)

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

Exome
Hypoventilation
Monozygotic Twins
Obesity
Neoplasms
4 Citations (Scopus)

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

Stillbirth
Umbilical Cord
Genome
Paraffin
Formaldehyde
5 Citations (Scopus)

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

Homeobox Genes
Neuroblastoma
Mutation
Hirschsprung Disease
Therapeutics
2014
18 Citations (Scopus)
Hypoventilation
Autonomic Nervous System
Sleep
Hypercapnia
Wakefulness
2 Citations (Scopus)
Hypoventilation
Obesity
Registries
Medicine
Online Systems

Pediatric polysomnography

Silvestri, J. & Weese-Mayer, D., Jun 18 2014, Sleep Medicine Secrets. Elsevier Inc, p. 173-175 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Polysomnography
Pediatrics
9 Citations (Scopus)

Proceedings of the fourth international conference on central hypoventilation

European Central Hypoventilation Syndrome Consortium, Jan 1 2014, In : Orphanet journal of rare diseases. 9, 1 p.

Research output: Contribution to journalReview article

Hypoventilation
Rare Diseases
Hirschsprung Disease
Live Birth
European Union

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

23 Citations (Scopus)

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

Hypercapnia
Homeobox Genes
Genotype
Young Adult
Hypoventilation

Sleep-disordered breathing, primary snoring, and sudden infant death syndrome

Silvestri, J. & Weese-Mayer, D., Jun 18 2014, Sleep Medicine Secrets. Elsevier Inc, p. 187-193 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Snoring
Sudden Infant Death
Sleep Apnea Syndromes
2013
6 Citations (Scopus)

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

Receptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type I
Sudden Infant Death
African Americans
Pituitary Adenylate Cyclase-Activating Polypeptide
Genes

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

15 Citations (Scopus)

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

Sudden Infant Death
Hypoventilation
Hirschsprung Disease
Respiration
Genes
8 Citations (Scopus)

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

Central Sleep Apnea
Homeodomain Proteins
Hypoventilation
Mosaicism
Health Policy
3 Citations (Scopus)

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)

Rand, C. M., Patwari, P. P., Carroll, M. S. & Weese-Mayer, D. E., Jan 1 2013, Encyclopedia of Sleep. Elsevier Inc, p. 332-338 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hypoventilation
Autonomic Nervous System
Obesity
Endocrine System
Pediatric Obesity
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

Central Sleep Apnea
Homeodomain Proteins
Hypoventilation
Mosaicism
Peptides
5 Citations (Scopus)

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

Hirschsprung Disease
Down Syndrome
Defecation
Mechanical Ventilators
Chromosome Aberrations
4 Citations (Scopus)

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

Frameshift Mutation
Autonomic Nervous System
Genotype
Hypoventilation
Mutation
29 Citations (Scopus)

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

Fetal Death
Sudden Infant Death
Neurons
Pons
Autonomic Nervous System

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