Christine J. Shaw

发表

Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing

Todd Richmond, Rolph Pfundt, L. Vissers, 2013, Human mutation.

ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation

J. Parker, G. Nanjangud, M. Sokolsky-Papkov, 2016, Development.

A girl with duplication 17p10‐p12 associated with a dicentric chromosome

P. Stankiewicz, J. Lupski, J. Christodoulou, 2004, American journal of medical genetics. Part A.

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

P. Stankiewicz, J. Lupski, L. Potocki, 2003, Genetics in Medicine.

Serial segmental duplications during primate evolution result in complex human genome architecture.

P. Stankiewicz, J. Lupski, M. Withers, 2004, Genome research.

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

B. Birren, P. Stankiewicz, J. Lupski, 2002, Genome research.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

L. Shaffer, P. Stankiewicz, J. Lupski, 2003, American journal of human genetics.

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.

J. Lupski, M. Withers, Christine J. Shaw, 2004, American journal of human genetics.

Chromosomal instability drives metastasis through a cytosolic DNA response

Samuel F. Bakhoum, Subramanian Venkatesan, Nancy Y. Lee, 2017, Nature.

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.

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

J. Lupski, W. Bi, Christine J. Shaw, 2002, American journal of human genetics.

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

J. Lupski, Christine J. Shaw, 2004, Human Genetics.

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

J. Lupski, Christine J. Shaw, 2004, Human molecular genetics.

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p

X. Estivill, P. Stankiewicz, J. Lupski, 2004, Human Genetics.

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

J. Lupski, P. Patel, W. Bi, 2003, American journal of human genetics.

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3

P. Stankiewicz, J. Lupski, S. Cheung, 2003, Cytogenetic and Genome Research.

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

L. Vissers, R. Pfundt, N. de Leeuw, 2014, Genomics data.

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

C. Shaw, T. Esposito, M. D'urso, 2001, Human molecular genetics.