Mutational Mechanisms of Williams-Beuren Syndrome Deletions

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1994 • 63,397 citations

DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis.

1999 • 2,033 citations

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

2015 • 1,875 citations

Alu repeats and human genomic diversity

2002 • 1,436 citations

Genome architecture, rearrangements and genomic disorders

2002 • 906 citations

Prevalence Estimation of Williams Syndrome

2002 • 735 citations

I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses

2000 • 700 citations

Natural history of Williams syndrome: Physical characteristics

1988 • 668 citations

The origin of interspersed repeats in the human genome

1996 • 595 citations

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

2000 • 504 citations

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1997 • 385 citations

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

2001 • 329 citations

VI. Genome Structure and Cognitive Map of Williams Syndrome

2000 • 290 citations

Segmental duplications: an 'expanding' role in genomic instability and disease

2001 • 287 citations

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

1999 • 281 citations

Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

1999 • 270 citations

Williams syndrome: Cognition, personality, and adaptive behavior

2000 • 269 citations

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

2000 • 261 citations

Genomic Disorders on 22q11

2002 • 245 citations

Williams-Beuren syndrome:genes and mechanisms

1999 • 237 citations

Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology.

1988 • 226 citations

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

1996 • 223 citations

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

2000 • 183 citations

A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1998 • 180 citations

Recombination hotspot in NF1 microdeletion patients

2001 • 178 citations

Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients

1998 • 176 citations

Williams syndrome: Autosomal dominant inheritance

1993 • 167 citations

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.

1997 • 138 citations

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions

1998 • 131 citations

Identification of additional transcripts in the Williams-Beuren syndrome critical region

2002 • 127 citations

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.

1991 • 119 citations

Williams syndrome professional symposium

2005 • 118 citations

Williams syndrome.

1986 • 113 citations

Pathological Consequences of Sequence Duplications in the Human Genome

1998 • 112 citations

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

2001 • 109 citations

Fine-Scale Comparative Mapping of the Human 7q11.23 Region and the Orthologous Region on Mouse Chromosome 5G: The Low-Copy Repeats That Flank the Williams–Beuren Syndrome Deletion Arose at Breakpoint Sites of an Evolutionary Inversion(s)

2000 • 107 citations

Dependence of Intrachromosomal Recombination in Mammalian Cells on Uninterrupted Homology

1988 • 79 citations

Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion

1996 • 78 citations

Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats

1990 • 77 citations

Generation and Comparative Analysis of ∼3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams Syndrome

2002 • 75 citations

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP

1995 • 61 citations

Williams-Beuren Syndrome: A Model of Recurrent Genomic Mutation

2003 • 54 citations

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

1996 • 53 citations

Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture**Previously presented at the annual meeting of The American Society of Human Genetics, in Baltimore, on October 19, 2002.

2003 • 52 citations

Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47° chronic granulomatous disease carrier detection

2002 • 51 citations

A to G polymorphism in ELN gene

1991 • 44 citations

A Mouse Single-Copy Gene,Gtf2i,the Homolog of HumanGTF2I,That Is Duplicated in the Williams–Beuren Syndrome Deletion Region

1998 • 43 citations

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

1997 • 17 citations

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