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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897

2019

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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Molecular psychiatry, 2013-10, Vol.18 (10), p.1090-1095

2013

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Towards an evidence-based process for the clinical interpretation of copy number variation

Clinical genetics, 2012-05, Vol.81 (5), p.403-412

2012

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Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

Journal of medical genetics, 2006-06, Vol.43 (6), p.478-489

2006

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Multicolor Spectral Karyotyping of Human Chromosomes

Science (American Association for the Advancement of Science), 1996-07, Vol.273 (5274), p.494-497

1996

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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Human molecular genetics, 1997-02, Vol.6 (2), p.157-164

1997

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Uniparental disomy in humans : development of an imprinting map and its implications for prenatal diagnosis

Human molecular genetics, 1995-01, Vol.4 (suppl_1), p.1757-1764

1995

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Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

Nature genetics, 1998-08, Vol.19 (4), p.333-339

1998

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

Neurology, 1999-07, Vol.53 (2), p.270-270

1999

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An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

American journal of human genetics, 2000-08, Vol.67 (2), p.320-332

2000

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Alu Polymerase Chain Reaction: A Method for Rapid Isolation of Human-Specific Sequences from Complex DNA Sources

Proceedings of the National Academy of Sciences - PNAS, 1989-09, Vol.86 (17), p.6686-6690

1989

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Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

Human molecular genetics, 1999-09, Vol.8 (9), p.1757-1760

1999

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LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Human molecular genetics, 1998-12, Vol.7 (13), p.2029-2037

1998

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A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3

Human molecular genetics, 1997-02, Vol.6 (2), p.147-155

1997

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“Molecular rulers” for calibrating phenotypic effects of telomere imbalance

Journal of medical genetics, 2002-10, Vol.39 (10), p.734-740

2002

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Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats

Nature (London), 1993-08, Vol.364 (6439), p.717-721

1993

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Nature genetics, 1994-09, Vol.8 (1), p.52-58

1994

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Methylation-specific PCR simplifies imprinting analysis

Nature genetics, 1997-05, Vol.16 (1), p.16-17

1997

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Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Human molecular genetics, 1998-06, Vol.7 (6), p.1011-1019

1998

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New microdeletion syndromes: complex, but no new paradigms

Journal of medical genetics, 2009-08, Vol.46 (8), p.576-576

Ledbetter, D H

2009

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The spectrum of mutations in UBE3A causing Angelman syndrome

Human molecular genetics, 1999, Vol.8 (1), p.129-135

1999

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Minireview : cryptic translocations and telomere integrity

American journal of human genetics, 1992-09, Vol.51 (3), p.451-456

LEDBETTER, D. H

1992

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Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

American journal of human genetics, 1995-07, Vol.57 (1), p.40-48

1995

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A YAC Contig of the Human CC Chemokine Genes Clustered on Chromosome 17q11.2

Genomics (San Diego, Calif.), 1996-06, Vol.34 (2), p.236-240

1996

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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Towards an evidence-based process for the clinical interpretation of copy number variation

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

Multicolor Spectral Karyotyping of Human Chromosomes

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

Uniparental disomy in humans : development of an imprinting map and its implications for prenatal diagnosis

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

Alu Polymerase Chain Reaction: A Method for Rapid Isolation of Human-Specific Sequences from Complex DNA Sources

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

A Revision of the Lissencephaly and Miller-Dieker Syndrome Critical Regions in Chromosome 17p13.3

“Molecular rulers” for calibrating phenotypic effects of telomere imbalance

Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

Methylation-specific PCR simplifies imprinting analysis

Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

New microdeletion syndromes: complex, but no new paradigms

The spectrum of mutations in UBE3A causing Angelman syndrome

Minireview : cryptic translocations and telomere integrity

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

A YAC Contig of the Human CC Chemokine Genes Clustered on Chromosome 17q11.2

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

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