Debra E Weese-Mayer

  • Professor, Pediatrics
  • Beatrice Cummings Mayer Professorship in Pediatric Autonomic Medicine, Pediatrics
  • 7292 Citations
1985 …2023
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1985 2020

Filter
Article
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

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
2017
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
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

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
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
2012
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
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
12 Citations (Scopus)

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

Mosaicism
Recurrence
Mutation
Amniocentesis
Genetic Counseling
25 Citations (Scopus)

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

Autonomic Nervous System
Homeobox Genes
Pupil
Constriction
Mutation
12 Citations (Scopus)

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

Familial Dysautonomia
Autonomic Nervous System
Heart Rate
Respiratory Rate
Sudden Death
29 Citations (Scopus)

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

Gene Deletion
Exons
Phenotype
Hypoventilation
Gene Duplication
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

28 Citations (Scopus)

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

Premature Infants
Hemoglobins
Oxygen
Oximetry
Apnea
25 Citations (Scopus)

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

Hypoventilation
Monozygotic Twins
Obesity
Phenotype
Autonomic Nervous System
38 Citations (Scopus)

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

Hypoventilation
Obesity
Receptor, Serotonin, 5-HT1A
Pituitary Adenylate Cyclase-Activating Polypeptide
Genes
2010
15 Citations (Scopus)

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

Mutation
Mosaicism
Cytosine
Guanine
Sequence Analysis

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

32 Citations (Scopus)

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

Genotype
Mutation
Demography
Wechsler Scales
Special Education
2009
11 Citations (Scopus)

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

Sudden Infant Death
Serotonin
Body Temperature Regulation
Serotonin Receptors
Arousal
36 Citations (Scopus)

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

Genotype
Mutation
Hypoventilation
Anesthetics
Adenoidectomy