Share This Author
Association between microdeletion and microduplication at 16p11.2 and autism.
A novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases are identified.
Disruption of neurexin 1 associated with autism spectrum disorder.
Genomic dissection of population substructure of Han Chinese and its implication in association studies.
Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosis
This work searched for new mutations in the coding region of angiogenin (ANG) and sought to define the functional consequences of these mutations.
Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders
- M. Ching, Yiping Shen, Bai-Lin Wu
- Psychology, BiologyAmerican Journal of Medical Genetics Part B…
- 7 April 2010
The study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders, including autism spectrum disorders, mental retardation, language delays and hypotonia.
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
A genome-wide search for signals of high-altitude adaptation in Tibetans.
Genetic studies of Tibetans, an ethnic group with a long-lasting presence on the Tibetan Plateau which is known as the highest plateau in the world, may offer a unique opportunity to understand the…
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically interpreted translocations and inversions. We…
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.