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

Debra E. Weese-Mayer, Amy Zhou, Carl E. Hunt, Casey M. Rand, Michael S. Carroll

Stillbirth: Correlations Between Brain Injury and Placental Pathology.

Linda M. Ernst, Debra E. Weese-Mayer, Eileen H. Bigio, Emily S. Miller, Esther N. Bit-Ivan, Lucy Minturn

Congenital Central Hypoventilation Syndrome: Update, Diagnosis, and Management

Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation

Rehan Saiyed, Anna S. Kenny, Casey M. Rand, Cindy D. Brogadir, Cynthia M. Koliboski, David W. Carley, Debra E. Weese-Mayer, Emily K.E. Petersen, Michael S. Carroll, Tracey M. Stewart

Determining peripheral skin temperature: subjective versus objective measurements.

Jennifer Tse, Aaron Charnay, Briseyda Morales, Casey Rand, Debra Weese-Mayer, Michael Carroll, Michele Le, Sally Vitez, Samantha Gordon

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.

Aaron J. Charnay, Casey M. Rand, Cindy D. Brogadir, Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Frank A. Zelko, Jeanne E. Antisdel-Lomaglio, Jennifer W. Tse, Michael N. Nelson, Michele Le, Sally F. Vitez, Samantha C. Gordon

Stillbirth evaluation: a stepwise assessment of placental pathology and autopsy

Emily S. Miller, Debra E. Weese-Mayer, Linda M. Ernst, Lucy Minturn, Rebecca Linn

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

Sarah F. Barclay, Casey M. Rand, Debra E. Weese-Mayer, Diego Ize-Ludlow, Elizabeth M. Berry-Kravis, N. Torben Bech-Hansen, Paul A. Gray, Richard J.A. Wilson, William T. Gibson

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

Michael S. Carroll, Anna S. Kenny, Cindy D. Brogadir, Debra E. Weese-Mayer, Pallavi P. Patwari, Tracey M. Stewart

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

Sarah F. Barclay, Casey M. Rand, Debra E. Weese-Mayer, Diego Ize-Ludlow, Elizabeth M. Berry-Kravis, Lauren A. Borch, Lisa Nguyen, N. Torben Bech-Hansen, Paul A. Gray, Paul M. K. Gordon, Richard J. A. Wilson, William T. Gibson, Zaw Aung

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

Amy E. Armstrong, Amir Mian, David O. Walterhouse, Debra E. Weese-Mayer, Jennifer Reichek, John M. Maris, Jonathan W. Bush, Mary Beth Madonna, Richard M. Shore, Vandana Batra, Yasmin Gosiengfiao

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

L.M. Ernst, C. Zhang, C.M. Rand, D.E. Weese-Mayer, J. Andrade, L. Minturn, R. Bao, R.L. Linn, W. Kang