A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth - Nature Reviews Genetics, 2018 - nature.com
The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …
cause for their condition. However, making a molecular diagnosis with current technologies …
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence
can support physicians in recognizing these patterns by associating facial phenotypes with …
can support physicians in recognizing these patterns by associating facial phenotypes with …
Nosology and classification of genetic skeletal disorders: 2019 revision
GR Mortier, DH Cohn, V Cormier‐Daire… - American journal of …, 2019 - Wiley Online Library
The application of massively parallel sequencing technology to the field of skeletal disorders
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
Monogenic variants in dystonia: an exome-wide sequencing study
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …
isolation (isolated dystonia), in combination with other movement disorders (combined …
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay… - The American Journal of …, 2017 - cell.com
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
D Greene, Genomics England Research Consortium… - Nature Medicine, 2023 - nature.com
The genetic etiologies of more than half of rare diseases remain unknown. Standardized
genome sequencing and phenotyping of large patient cohorts provide an opportunity for …
genome sequencing and phenotyping of large patient cohorts provide an opportunity for …