Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
出版年份 2022 全文链接
标题
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
作者
关键词
-
出版物
JAMA Neurology
Volume 79, Issue 4, Pages 405
出版商
American Medical Association (AMA)
发表日期
2022-03-08
DOI
10.1001/jamaneurol.2022.0067
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Risdiplam in Type 1 Spinal Muscular Atrophy
- (2021) Giovanni Baranello et al. NEW ENGLAND JOURNAL OF MEDICINE
- Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
- (2021) John W Day et al. LANCET NEUROLOGY
- Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
- (2021) Tamara Dangouloff et al. NEUROMUSCULAR DISORDERS
- Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
- (2020) Alessandra Ruggieri et al. ACTA NEUROPATHOLOGICA
- Genetic testing strategies in the newborn
- (2020) Jeanne Carroll et al. Journal of Perinatology
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
- (2020) Melissa Hill et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
- (2020) Gemma R. Brett et al. GENETICS IN MEDICINE
- Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
- (2020) et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Children’s rare disease cohorts: an integrative research and clinical genomics initiative
- (2020) Shira Rockowitz et al. npj Genomic Medicine
- Newborn Screening for Spinal Muscular Atrophy: Ontario Testing & Follow-up Recommendations
- (2020) Hugh J McMillan et al. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes
- (2020) Megan A. Waldrop et al. PEDIATRICS
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
- (2020) Gregory Costain et al. JAMA Network Open
- The once and future gene therapy
- (2020) Karen Bulaklak et al. Nature Communications
- Rapid Challenges: Ethics and Genomic Neonatal Intensive Care
- (2019) Christopher Gyngell et al. PEDIATRICS
- Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project
- (2019) Stacey Pereira et al. PEDIATRICS
- Therapeutic aspects in congenital myopathies
- (2019) Heinz Jungbluth et al. Seminars in Pediatric Neurology
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
- (2019) Hernan D. Gonorazky et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Impact of age and motor function in a phase 1/2A study of infants with SMA Type 1 receiving single-dose gene replacement therapy
- (2019) Linda P. Lowes et al. PEDIATRIC NEUROLOGY
- Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
- (2019) Lauren S. Akesson et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular genetics of congenital myotonic dystrophy
- (2019) Stella Lanni et al. NEUROBIOLOGY OF DISEASE
- Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
- (2019) Darryl C. De Vivo et al. NEUROMUSCULAR DISORDERS
- Neuromuscular Diseases of the Newborn
- (2019) Alex J. Fay Seminars in Pediatric Neurology
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
- (2019) Stephen F. Kingsmore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
- (2019) Cynthia S. Gubbels et al. GENETICS IN MEDICINE
- AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
- (2019) Jean-Baptiste Dupont et al. MOLECULAR THERAPY
- Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
- (2019) Jinkuk Kim et al. NEW ENGLAND JOURNAL OF MEDICINE
- Meeting the challenges of implementing rapid genomic testing in acute pediatric care
- (2018) Zornitza Stark et al. GENETICS IN MEDICINE
- The functional genomics laboratory: functional validation of genetic variants
- (2018) Richard J. Rodenburg JOURNAL OF INHERITED METABOLIC DISEASE
- Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
- (2018) Eugenio Mercuri et al. NEUROMUSCULAR DISORDERS
- Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
- (2018) Lauge Farnaes et al. npj Genomic Medicine
- Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
- (2018) Michelle M. Clark et al. npj Genomic Medicine
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
- (2017) Michael F. Wangler et al. GENETICS
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- (2017) Anath C Lionel et al. GENETICS IN MEDICINE
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
- (2017) Sumit Parikh et al. GENETICS IN MEDICINE
- Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
- (2017) Jerry R. Mendell et al. NEW ENGLAND JOURNAL OF MEDICINE
- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
- (2017) Richard S. Finkel et al. NEW ENGLAND JOURNAL OF MEDICINE
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
- (2017) Hichem Tasfaout et al. Nature Communications
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
- (2017) Michael F. Wangler et al. GENETICS
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
- (2016) Dimitri J Stavropoulos et al. npj Genomic Medicine
- Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
- (2015) Irina T. Zaharieva et al. BRAIN
- Neonatal Hypotonia
- (2015) Susan E. Sparks CLINICS IN PERINATOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
- (2015) Martina Huemer et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Computational Approach to Annotating Variants of Unknown Significance in Clinical Next Generation Sequencing
- (2015) Wade L. Schulz et al. Labmedicine
- Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation
- (2015) Frenny Sheth et al. Molecular Cytogenetics
- Computational Approach to Annotating Variants of Unknown Significance in Clinical Next Generation Sequencing
- (2015) Wade L. Schulz et al. LABORATORY MEDICINE
- Prevalence of Prader–Willi Syndrome among Infants with Hypotonia
- (2014) Beyhan Tuysuz et al. JOURNAL OF PEDIATRICS
- Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome
- (2014) Alvin S. Das et al. PEDIATRIC NEUROLOGY
- Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice
- (2014) Giulia Mearini et al. Nature Communications
- Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
- (2013) Elizabeth Stevens et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Approach to the diagnosis of congenital myopathies
- (2013) Kathryn N. North et al. NEUROMUSCULAR DISORDERS
- Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
- (2013) Ayman W. El-Hattab et al. Neurotherapeutics
- Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies
- (2013) Elizabeth Stevens et al. PLoS One
- Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
- (2013) A. Biffi et al. SCIENCE
- Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature
- (2011) EMILY C LISI et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
- (2011) J. Kim et al. NEUROMUSCULAR DISORDERS
- Genetic evaluation of the floppy infant
- (2010) A.N. Prasad et al. Seminars in Fetal & Neonatal Medicine
- The Evaluation of the Hypotonic Infant
- (2008) John B. Bodensteiner Seminars in Pediatric Neurology
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search