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Precision Health Database


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Rare Diseases

Last data update: Sep 21, 2023. (Total: 61625 Documents since 2012)
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Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023
All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing.
Clare van Eyk et al. JAMA pediatrics 2023
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava Siddharth et al. JAMA neurology 2022
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy A Systematic Review and Meta-analysis
S Srivastava et al, JAMA Neurology, October 24, 2022
Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.
Bin Sawad Aseel et al. Molecular genetics and metabolism 2022 137(1-2) 153-163
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Common data elements to standardize genomics studies in cerebral palsy.
Wilson Yana A et al. Developmental medicine and child neurology 2022
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Boyce Danielle et al. Epilepsy & behavior : E&B 2021 125108365
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
CL van Eyk et al, NPJ Genomic Medicine, September 16, 2021
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Al Zahrani Haifa et al. Molecular genetics and metabolism 2021
Genetic counseling considerations in cerebral palsy.
Elliott Alison M et al. Molecular genetics and metabolism 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli Michal et al. Journal of medical genetics 2021
Genome-Wide Association Study Identifies Genetic Risk Factors for Spastic Cerebral Palsy.
Hale Andrew T et al. Neurosurgery 2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca Andrés et al. JAMA 2021 Feb 325(5) 467-475
Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy: A survey study.
Aravamuthan Bhooma R et al. Neurology 2020 Oct
The Expanding Role of Genetics in Cerebral Palsy.
Emrick Lisa T et al. Physical medicine and rehabilitation clinics of North America 2020 31(1) 15-24
Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.
Caffarelli Carlo et al. Italian journal of pediatrics 2016 Aug 42(1) 75
Increase in Developmental Disabilities Among Children in the United States
CDC, September 2019
When You Don?t Know, You Feel Alone in the World? The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019
CLINGEN Actionability Report for Dopa-Responsive Dystonia - RB1
ClinGen Actionability Working Group
Family History of Mental and Neurological Disorders and Risk of Autism.
Xie Sherlly, et al. JAMA network open 2019 3 0. (3) e190154
Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews Allison M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Corbett Mark A, et al. NPJ genomic medicine 2018 0 0. 33
Genetic Link to Cerebral Palsy May be More Common Than Thought, Suggests Large Study Presented at NSGC Meeting
NSGC Blog, November 15, 2018
Identical Twins Hint at How Environments Change Gene Expression
Studying twins has long offered insight into the interplay of nature and nurture. Epigenetics is the next frontier. E Hayasaki, The Atlantic, May 2018
Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children with Cerebral Palsy.
McLaughlin Matthew J et al. PM & R : the journal of injury, function, and rehabilitation 2017 Aug
The genetic basis of cerebral palsy.
Fahey Michael C et al. Developmental medicine and child neurology 2017 Jan
Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.
Torres Vinicius M et al. J Pediatr (Rio J) 2015 Jan-Feb (1) 22-9
Cerebral Palsy - Causes, pathways, and the role of genetic variants.
MacLennan Alastair H et al. Am. J. Obstet. Gynecol. 2015 May 20.
Clinically relevant copy number variations detected in cerebral palsy.
Oskoui Maryam et al. Nat Commun 67949
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