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Enhancer-adoption as a mechanism of human developmental disease

Human mutation, 2011-12, Vol.32 (12), p.1492-1499

2011

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Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

American journal of human genetics, 2007-08, Vol.81 (2), p.264-279

2007

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Identification of SATB2 as the cleft palate gene on 2q32–q33

Human molecular genetics, 2003-10, Vol.12 (19), p.2491-2501

2003

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Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

PloS one, 2010-08, Vol.5 (8), p.e12375

2010

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Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13)

Human molecular genetics, 1999-06, Vol.8 (6), p.1025-1037

1999

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The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin

American journal of human genetics, 2002-04, Vol.70 (4), p.972-984

2002

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CpG islands of chicken are concentrated on microchromosomes

Nature genetics, 1996-03, Vol.12 (3), p.321-324

1996

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Mutations in SOX2 cause anophthalmia

Nature genetics, 2003-04, Vol.33 (4), p.462-463

2003

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The Reticulocalbin Gene Maps to the WAGR Region in Human and to the Small Eye Harwell Deletion in Mouse

Genomics (San Diego, Calif.), 1997-06, Vol.42 (2), p.260-267

1997

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The Genomic Organization of the Murine Pax 8 Gene and Characterization of Its Basal Promoter

Genomics (San Diego, Calif.), 1997-06, Vol.42 (3), p.452-461

1997

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Characterization of physical gap sizes at human telomeres

Genome research, 1999-09, Vol.9 (9), p.888

1999

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Analyzing Chromosomes

Chromosome research, 2001-07, Vol.9 (4), p.343-344

Fantes, Judy

2001

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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

Journal of medical genetics, 2001-01, Vol.38 (1), p.26-34

2001

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The Human Serum Amyloid A Protein (SAA) Superfamily Gene Cluster: Mapping to Chromosome 11p15.1 by Physical and Genetic Linkage Analysis

Genomics (San Diego, Calif.), 1994-01, Vol.19 (2), p.221-227

1994

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Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

Human molecular genetics, 1995-03, Vol.4 (3), p.415-422

1995

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A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

Genomics (San Diego, Calif.), 1995-01, Vol.25 (2), p.447-461

1995

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A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

Journal of medical genetics, 1997-03, Vol.34 (3), p.207-212

1997

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Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis

American journal of human genetics, 1996, Vol.58 (1), p.161-170

1996

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Molecular Analysis of Chromosome 11 Deletions in Aniridia-Wilms Tumor Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1985-12, Vol.82 (24), p.8592-8596

1985

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De novo microdeletion on an inherited Robertsonian translocation chromosome : a cause for dysmorphism in the apparently balanced translocation carrier

American journal of human genetics, 1993-09, Vol.53 (3), p.629-637

1993

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The results of colchicine treatment of dihaploids and their implications regarding efficiency of chromosome doubling and potato histogeny

Potato research, 1983-12, Vol.26 (4), p.289-294

1983

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Molecular and Physical Arrangements of Human DNA in HRAS1-Selected, Chromosome-Mediated Transfectants

Molecular and cellular biology, 1986-06, Vol.6 (6), p.2223-2232

1986

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Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids

Somatic cell and molecular genetics, 1988, Vol.14 (1), p.21-30

1988

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Book review

Chromosome Research, 1995, Vol.3 (1), p.73-73

1995

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Enhancer-adoption as a mechanism of human developmental disease

Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

Identification of SATB2 as the cleft palate gene on 2q32–q33

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

Large Genomic Duplicons Map to Sites of Instability in the Prader-Willi/Angelman Syndrome Chromosome Region (15q11–q13)

The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

CpG islands of chicken are concentrated on microchromosomes

Mutations in SOX2 cause anophthalmia

The Reticulocalbin Gene Maps to the WAGR Region in Human and to the Small Eye Harwell Deletion in Mouse

The Genomic Organization of the Murine Pax 8 Gene and Characterization of Its Basal Promoter

Characterization of physical gap sizes at human telomeres

Analyzing Chromosomes

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

The Human Serum Amyloid A Protein (SAA) Superfamily Gene Cluster: Mapping to Chromosome 11p15.1 by Physical and Genetic Linkage Analysis

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis

Molecular Analysis of Chromosome 11 Deletions in Aniridia-Wilms Tumor Syndrome

De novo microdeletion on an inherited Robertsonian translocation chromosome : a cause for dysmorphism in the apparently balanced translocation carrier

The results of colchicine treatment of dihaploids and their implications regarding efficiency of chromosome doubling and potato histogeny

Molecular and Physical Arrangements of Human DNA in HRAS1-Selected, Chromosome-Mediated Transfectants

Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids

Book review

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