Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS): an international, multicentre, randomised, controlled equivalence trial

(2019) Mary Ellen McCann et al.   LANCET

Pediatric Risk Stratification Is Improved by Integrating Both Patient Comorbidities and Intrinsic Surgical Risk

(2019) Viviane G. Nasr et al.   ANESTHESIOLOGY

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

(2019) Elena-Raluca Nicoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

(2018) Mari J. Tokita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Does the Current American Society of Anesthesiologists Physical Status Classification Represent the Chronic Disease Burden in Children Undergoing General Anesthesia?

(2018) Izabela Leahy et al.   ANESTHESIA AND ANALGESIA

Incidence and risk factors of unplanned intubation during pediatric sedation for MRI

(2018) Doyeon Kim et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Predictive factors for adverse outcomes in pediatric patients undergoing low-risk skin and soft tissue surgery: A database analysis of 6730 patients

(2018) Eric C. Cheon et al.   PEDIATRIC ANESTHESIA

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

(2017) Rebecca C. Spillmann et al.   Orphanet Journal of Rare Diseases

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

(2017) Yvonne Zurynski et al.   Orphanet Journal of Rare Diseases

Association Between a Single General Anesthesia Exposure Before Age 36 Months and Neurocognitive Outcomes in Later Childhood

(2016) Lena S. Sun et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

Procedural Sedation Outside of the Operating Room Using Ketamine in 22,645 Children

(2016) Jocelyn R. Grunwell et al.   Pediatric Critical Care Medicine

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

(2015) Shannon Marchegiani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families

(2014) Nikkola Carmichael et al.   Journal of Genetic Counseling

Anesthetic considerations in patients with mitochondrial defects

(2013) Julie Niezgoda et al.   PEDIATRIC ANESTHESIA

Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions

(2012) Anne C. Madeo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

(2012) W. A. Gahl et al.   Disease Models & Mechanisms

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Niemann-Pick Disease Type C: Implications for Sedation and Anesthesia for Diagnostic Procedures

(2012) Ning Miao et al.   JOURNAL OF CHILD NEUROLOGY

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Risks of Propofol Sedation/Anesthesia for Imaging Studies in Pediatric Research

(2010) Ruwan Kiringoda et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

Anesthetic management of the patient with epilepsy or prior seizures

(2010) W Andrew Kofke   Current Opinion in Anesthesiology

Living Without a Diagnosis: The Parental Experience

(2010) Celine Lewis et al.   Genetic Testing and Molecular Biomarkers

Children with Infantile Neuronal Ceroid Lipofuscinosis Have an Increased Risk of Hypothermia and Bradycardia During Anesthesia

(2009) Ning Miao et al.   ANESTHESIA AND ANALGESIA

The Incidence and Nature of Adverse Events During Pediatric Sedation/Anesthesia With Propofol for Procedures Outside the Operating Room: A Report From the Pediatric Sedation Research Consortium

(2009) Joseph P. Cravero et al.   ANESTHESIA AND ANALGESIA