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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.319-329

2018

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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.182-189

2013

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Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.37-43

2009

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.18-27

2008

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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Molecular cytogenetics, 2010-02, Vol.3 (1), p.3-3

2010

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Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.793-797

2009

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Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.739-743

2006

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Pallister-Killian syndrome: a study of 22 British patients

Journal of medical genetics, 2015-07, Vol.52 (7), p.454-464

2015

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Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

American journal of human genetics, 2008-04, Vol.82 (4), p.927-936

2008

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Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences

American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.615-618

2007

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Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

BMC medical genetics, 2013-04, Vol.14 (1), p.42-42

2013

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Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

BMC medical genetics, 2013-04, Vol.14 (1), Article 42

2013

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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

European journal of human genetics : EJHG, 2005-10, Vol.13 (10), p.1131-1136

2005

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A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

European journal of medical genetics, 2008-11, Vol.51 (6), p.672-678

2008

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Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Human genetics, 2009-03, Vol.125 (2), p.181-188

2009

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Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.716-720

2005

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Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion

Clinical dysmorphology, 2009-10, Vol.18 (4), p.222-224

2009

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Inverted Duplication of 1q32.1 to 1q44 Characterized by Array CGH and Review of Distal Iq Partial Trisomy

American journal of medical genetics. Part A, 2009, Vol.149 (4), p.793-797

2009

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A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'

European journal of medical genetics, 2008-11, Vol.51 (6), p.672-678

2008

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SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

American journal of medical genetics, 2004-07, Vol.128A (2), p.179-184

2004

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SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

American Journal of Medical Genetics Part A, 2004, Vol.128A (2), p.179-184

2004

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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

Pallister-Killian syndrome: a study of 22 British patients

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion

Inverted Duplication of 1q32.1 to 1q44 Characterized by Array CGH and Review of Distal Iq Partial Trisomy

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism

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