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Michael’s missed genetic diagnosis
Michael, after whom the Michael Foundation is named, had been diagnosed with neonatal-onset refractory epilepsy that challenged numerous...
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Techniques for the Diagnosis of Rare Genetic Disorders
Rare genetic disorders are hereditary conditions brought on by changes or mutations in a person’s DNA. A few people are affected by these illnesses,...
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Scoping Review: Application of Machine Learning Techniques in Genetic Diagnosis
Machine learning techniques have been an important support for disease prediction and diagnosis utilizing genetic variants classification. This...
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Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing
AbstractPrenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging....
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In Utero Genetic Screening and Diagnosis
Many countries and regions carry out prenatal screening for certain fatal and disabling serious genetic diseases with high incidence. Prenatal...
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Genetic Diagnosis and Counseling in Muscular Dystrophies
Muscular dystrophies are a large group of genetic muscle diseases, and their diagnosis has become easier, faster, more reliable, and more economical...
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Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
BackgroundGenetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical...
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Rare Genetic Disorders Advancements in Diagnosis and Treatment
This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging...
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Enhancing breast cancer diagnosis accuracy through genetic algorithm-optimized multilayer perceptron
This research paper investigates the application of a genetic algorithm (GA) to optimize the performance of a Multilayer Perceptron (MLP) model for...
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Impact of a Genetic Diagnosis for a Child’s Autism on Parental Perceptions
Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the...
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Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter?
BackgroundParents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health...
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Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
BackgroundBardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic...
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Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis
BackgroundIn China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental...
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare...
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Research on bearing fault diagnosis based on improved genetic algorithm and BP neural network
Health monitoring and fault diagnosis of rolling bearings are crucial for the continuous and effective operation of mechanical equipment. In order to...
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Bioethical Quandaries in Preimplantation Genetic Diagnosis
Generally, Preimplantation Genetic Diagnosis (PGD) is understood as a tool for embryonic selection involving therapy, enhancement or sex selection,...
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Comparing 2D and 3D representations for face-based genetic syndrome diagnosis
Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic...
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Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testing strategies, such as...
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The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing
Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is...
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Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review
BackgroundInfantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely,...
