J. Scull

发表

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Magalie S Leduc, J. Lupski, R. Gibbs, 2013, The New England journal of medicine.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Nucleic Acid Extraction Techniques

J. Scull, 2014 .

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

A. Beaudet, D. Muzny, Yaping Yang, 2017, Genetics in Medicine.

Clinical genome sequencing: three years experience at a tertiary childrens hospital

C. Shaw, Runjun D. Kumar, J. Scull, 2023, medRxiv.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

A. Beaudet, Yaping Yang, F. Xia, 2017, Genetics in Medicine.