Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Hans-Georg Bock, Maria Descartes, Frank J Probst, Fernando Scaglia, Arthur L Beaudet, James R Lupski, Christine Eng, Sau Wai Cheung, Carlos Bacino, Ankita Patel. Eur J Hum Genet 2014
Times Cited: 82
Times Cited: 82
Times Cited
Times Co-cited
Similarity
Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
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35
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
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Molecular findings among patients referred for clinical whole-exome sequencing.
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
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A copy number variation morbidity map of developmental delay.
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14
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Origins and functional impact of copy number variation in the human genome.
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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
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A microhomology-mediated break-induced replication model for the origin of human copy number variation.
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Mechanisms for recurrent and complex human genomic rearrangements.
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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
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Mechanisms underlying structural variant formation in genomic disorders.
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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
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UPD detection using homozygosity profiling with a SNP genotyping microarray.
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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
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8
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
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7
Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
Blake C Ballif, Emily A Rorem, Kyle Sundin, Matt Lincicum, Shannon Gaskin, Justine Coppinger, Catherine D Kashork, Lisa G Shaffer, Bassem A Bejjani. Am J Med Genet A 2006
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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.
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Detection of large-scale variation in the human genome.
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
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Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Zhishuo Ou, Sung-Hae L Kang, Chad A Shaw, Condie E Carmack, Lisa D White, Ankita Patel, Arthur L Beaudet, Sau Wai Cheung, A Craig Chinault. Genet Med 2008
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Copy number and SNP arrays in clinical diagnostics.
Christian P Schaaf, Joanna Wiszniewska, Arthur L Beaudet. Annu Rev Genomics Hum Genet 2011
Christian P Schaaf, Joanna Wiszniewska, Arthur L Beaudet. Annu Rev Genomics Hum Genet 2011
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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Daniel A King, Tomas W Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton-Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E Hurles. Genome Res 2014
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Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
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7
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver,[...]. Nat Genet 2011
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7
Absence of heterozygosity due to template switching during replicative rearrangements.
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16
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
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Exome sequencing and whole genome sequencing for the detection of copy number variation.
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
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Identification of novel candidate disease genes from de novo exonic copy number variants.
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
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Fast and accurate short read alignment with Burrows-Wheeler transform.
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Heng Li, Richard Durbin. Bioinformatics 2009
6
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.