John Tolmie
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View article: Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients Open
Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic vari…
View article: A mutation creating an upstream initiation codon in the<i><scp>SOX</scp>9</i>5′<scp>UTR</scp>causes acampomelic campomelic dysplasia
A mutation creating an upstream initiation codon in the<i><span>SOX</span>9</i>5′<span>UTR</span>causes acampomelic campomelic dysplasia Open
Background Campomelic dysplasia ( CD ) is a semilethal developmental disorder caused by mutations in and around SOX 9 . CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients…
View article: B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability Open
Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 i…
View article: Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies Open
Background— Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understandi…
View article: Mosaic structural variation in children with developmental disorders
Mosaic structural variation in children with developmental disorders Open
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, ha…
View article: Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Open
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target ester…