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Precision Health Database


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Reproductive and Child Health

Last data update: Oct 22, 2021. (Total: 42945 Documents since 2012)
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Query Trace: all[original query]>>Translation/Implementation Studies[Product Type]
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands Charlie et al. Scientific reports 2021 11(1) 20607
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa Claudia Ismania Samogy et al. Clinical genetics 2021
Molecular Diagnoses of X-linked and Other Genetic Hypophosphatemias: Results from a Sponsored Genetic Testing Program.
Rush Eric T et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021
A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
Phillips Gregory S et al. Journal of the American Academy of Dermatology 2021
Deep Learning-Based Analysis of Face Images as a Screening Tool for Genetic Syndromes.
Geremek Maciej et al. Sensors (Basel, Switzerland) 2021 21(19)
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia Alicia et al. Orphanet journal of rare diseases 2021 16(1) 412
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
Hui Lisa et al. BMC pediatrics 2021 21(1) 447
Can digital health technologies exacerbate the health gap? A clustering analysis of mothers' opinions toward digitizing the maternal and child health handbook.
Goto Ryunosuke et al. SSM - population health 2021 16100935
The Prevalence of Depression and Anxiety Among Sickle Cell Disease Patients in King Abdulaziz University Hospital.
Al-Marzouki Adel F et al. Cureus 2021 13(9) e18374
Investigating Predictors of Preserved Cognitive Function in Older Women Using Machine Learning: Women's Health Initiative Memory Study.
Casanova Ramon et al. Journal of Alzheimer's disease : JAD 2021
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Davids Laura et al. Molecular genetics and metabolism 2021
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
Gürsoy Semra et al. Molecular syndromology 2021 12(5) 269-278
Skype Supervised, Individualized, Home-Based Rehabilitation Programs for Individuals With Rett Syndrome and Their Families - Parental Satisfaction and Point of View.
Lotan Meir et al. Frontiers in psychology 2021 12720927
Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy.
Wu Heming et al. Frontiers in genetics 2021 12732419
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Al-Shinnag Mohammad et al. Frontiers in oncology 2021 11738822
Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry.
Austin Pickens C et al. Clinical chemistry 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Gardner Eugene J et al. American journal of human genetics 2021
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio Caio Robledo D'Angioli Costa et al. Genetics and molecular biology 2021 44(4) 20210061
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Kernohan Kristin D et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1-7
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia Pascual et al. Journal of pediatric gastroenterology and nutrition 2021
Machine learning algorithms for predicting undernutrition among under-five children in Ethiopia.
Bitew Fikrewold H et al. Public health nutrition 2021 1-29
Categorizing Vaccine Confidence With a Transformer-Based Machine Learning Model: Analysis of Nuances of Vaccine Sentiment in Twitter Discourse.
Kummervold Per E et al. JMIR medical informatics 2021 9(10) e29584
The impact of sex, age at onset, recurrence, mode of ascertainment and medical complications on the family genetic risk score profiles for alcohol use disorder.
Kendler Kenneth S et al. Psychological medicine 2021 1-9
Sweat testing in the modern era: A national survey of sweat testing practice in the Republic of Ireland.
Maguire Barrie et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing
C Chen et al, BMC Medical Genomics, October 9, 2021
Comparison of machine learning algorithms applied to symptoms to determine infectious causes of death in children: national survey of 18,000 verbal autopsies in the Million Death Study in India.
Idicula-Thomas Susan et al. BMC public health 2021 21(1) 1787
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane Andre et al. Journal of neuromuscular diseases 2021
Blood Demand and Challenges for Patients With Beta-Thalassemia Major in Eastern Saudi Arabia.
Albagshi Muneer H et al. Cureus 2021 13(8) e17470
Wilson Disease in Children; Chelation Therapy or Liver Transplantation? A 10-Year Experience from Pakistan.
Aaraj Sahira et al. Annals of transplantation 2021 26e932606
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema Huma et al. NPJ genomic medicine 2021 5(1) 44
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