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Warsaw breakage syndrome: Further clinical and genetic delineation

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2404-2418

2018

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Genome assembly comparison identifies structural variants in the human genome

Nature genetics, 2006-12, Vol.38 (12), p.1413-1418

2006

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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Molecular cytogenetics, 2018-08, Vol.11 (1), p.50-5, Article 50

2018

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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Journal of medical genetics, 2010-03, Vol.47 (3), p.195-203

2010

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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Scientific reports, 2016-07, Vol.6 (1), p.28663-28663, Article 28663

2016

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MuLV-related endogenous retroviral elements and Flt3 participate in aberrant end-joining events that promote B-cell leukemogenesis

Genes & development, 2014-06, Vol.28 (11), p.1179-1190

2014

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Complete functional rescue of the ABCA1[superscript -/-] mouse by human BAC transgenesis

Journal of lipid research, 2005-06, Vol.46 (6), p.1113-1123

2005

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PGD for a carrier of an intrachromosomal insertion using aCGH

Systems biology in reproductive medicine, 2014-12, Vol.60 (6), p.377-382

2014

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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

Journal of medical genetics, 2011-05, Vol.48 (5), p.317-322

2011

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Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

Neurology. Genetics, 2016-02, Vol.2 (1), p.e43-e43

2016

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Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization

Methods in molecular medicine, 2006, Vol.126, p.113

2006

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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions : Copy-number variation

Journal of medical genetics, 2011, Vol.48 (5), p.317-322

2011

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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Molecular cytogenetics, 2018, Vol.11, p.50-50

2018

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PGD for a carrier of an intrachromosomal insertion using aCGH

Systems Biology in Reproductive Medicine, 2014, Vol.60 (6), p.377-382

2014

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Environmental correlates of blue and fin whale call detections in the North Pacific Ocean from 1997 to 2002

Marine ecology. Progress series (Halstenbek), 2009-12, Vol.395, p.37-53

2009

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Twelve years of tracking 52-Hz whale calls from a unique source in the North Pacific

Deep-sea research. Part I, Oceanographic research papers, 2004-12, Vol.51 (12), p.1889-1901

2004

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Seasonality and Distribution of Whale Calls in the North Pacific

Oceanography (Washington, D.C.), 2000-01, Vol.13 (1), p.62-67

2000

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Aestimatio: Critical Reviews in the History of Science

2009

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Warsaw breakage syndrome: Further clinical and genetic delineation

Genome assembly comparison identifies structural variants in the human genome

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

MuLV-related endogenous retroviral elements and Flt3 participate in aberrant end-joining events that promote B-cell leukemogenesis

Complete functional rescue of the ABCA1[superscript -/-] mouse by human BAC transgenesis

PGD for a carrier of an intrachromosomal insertion using aCGH

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions : Copy-number variation

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

PGD for a carrier of an intrachromosomal insertion using aCGH

Environmental correlates of blue and fin whale call detections in the North Pacific Ocean from 1997 to 2002

Twelve years of tracking 52-Hz whale calls from a unique source in the North Pacific

Seasonality and Distribution of Whale Calls in the North Pacific

Aestimatio: Critical Reviews in the History of Science

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