Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

(2018) Orazio Palumbo et al.   European Journal of Medical Genetics

Inversion variants in human and primate genomes

(2018) Claudia Rita Catacchio et al.   GENOME RESEARCH

High-resolution comparative analysis of great ape genomes

(2018) Zev N. Kronenberg et al.   SCIENCE

Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation

(2017) Sergey Koren et al.   GENOME RESEARCH

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

(2017) Rossella Cannarella et al.   Endocrine Connections

Characterizing polymorphic inversions in human genomes by single-cell sequencing

(2016) Ashley D. Sanders et al.   GENOME RESEARCH

Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications

(2015) Beth L. Dumont   BMC GENOMICS

Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

(2015) Devin M. Cox et al.   CYTOGENETIC AND GENOME RESEARCH

The Time Scale of Recombination Rate Evolution in Great Apes

(2015) Laurie S. Stevison et al.   MOLECULAR BIOLOGY AND EVOLUTION

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature

(2014) Huihui Xu et al.   European Journal of Medical Genetics

Reconstructing complex regions of genomes using long-read sequencing technology

(2014) J. Huddleston et al.   GENOME RESEARCH

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

(2014) Francesca Antonacci et al.   NATURE GENETICS

Recombination initiation maps of individual human genomes

(2014) F. Pratto et al.   SCIENCE

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

(2013) Trent Burgess et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evolution and diversity of copy number variation in the great ape lineage

(2013) P. H. Sudmant et al.   GENOME RESEARCH

Hominoid fission of chromosome 14/15 and the role of segmental duplications

(2013) Giuliana Giannuzzi et al.   GENOME RESEARCH

Complex small supernumerary marker chromosomes – an update

(2013) Thomas Liehr et al.   Molecular Cytogenetics

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci

(2012) Sandra C. Doelken et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

(2012) Jaya K. George-Abraham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

(2012) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

(2012) Brynn Levy et al.   GENETICS IN MEDICINE

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

(2011) Heather C Mefford et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

(2010) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

mrsFAST: a cache-oblivious algorithm for short-read mapping

(2010) Faraz Hach et al.   NATURE METHODS

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

(2009) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

A burst of segmental duplications in the genome of the African great ape ancestor

(2009) Tomas Marques-Bonet et al.   NATURE

The origins and impact of primate segmental duplications

(2009) Tomas Marques-Bonet et al.   TRENDS IN GENETICS

Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution

(2008) Owen J. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DupMasker: A tool for annotating primate segmental duplications

(2008) Z. Jiang et al.   GENOME RESEARCH

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS