Jaynee Chauhan
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View article: Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases
Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases Open
Patients with rare diseases often encounter significant challenges, including poor coordination of healthcare services. The UK Rare Disease Framework emphasizes key priorities such as faster diagnoses, greater awareness among healthcare pr…
View article: Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders Open
Our results underscore the importance of achieving a clinico-molecular diagnosis to ensure timely onward referral of patients, enabling appropriate care and anticipatory surveillance, and for accessing relevant patient support groups.
View article: Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders Open
Objective We sought to evaluate outcomes for clinical management following a genetic diagnosis from the Deciphering Developmental Disorders (DDD) Study. Design Individuals in the DDD study who had a pathogenic/likely pathogenic genotype in…
View article: De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement Open
View article: Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus Open
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life‐threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority …