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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Clinical genetics, 2015-03, Vol.87 (3), p.252-258

2015

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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical genetics, 2017-08, Vol.92 (2), p.166-171

2017

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314

2006

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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

Clinical genetics, 2013-05, Vol.83 (5), p.467-471

2013

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Journal of medical genetics, 2006-05, Vol.43 (5), p.401-405

2006

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Dysmorphology services: a snapshot of current practices and a vision for the future

Clinical genetics, 2016-01, Vol.89 (1), p.27-33

2016

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Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

Journal of medical genetics, 2004-01, Vol.41 (1), p.60-67

2004

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Incontinentia pigmenti (Bloch-Sulzberger syndrome)

Journal of medical genetics, 1993-01, Vol.30 (1), p.53-59

1993

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Journal of medical genetics, 1992-12, Vol.29 (12), p.841-846

1992

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De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

Journal of medical genetics, 2002-11, Vol.39 (11), p.804-806

2002

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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Clinical genetics, 2008-11, Vol.74 (5), p.434-444

2008

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FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

American journal of human genetics, 2008-04, Vol.82 (4), p.916-926

2008

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Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Nature genetics, 1997-09, Vol.17 (1), p.18-19

1997

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Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract

Proceedings of the National Academy of Sciences - PNAS, 1997-07, Vol.94 (14), p.7458-7463

1997

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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Journal of medical genetics, 1999-07, Vol.36 (7), p.518-523

1999

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A clinical study of type 1 neurofibromatosis in north west England

Journal of medical genetics, 1999-03, Vol.36 (3), p.197-203

1999

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Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

Journal of medical genetics, 2003-02, Vol.40 (2), p.136-140

2003

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Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

Journal of medical genetics, 1998-07, Vol.35 (7), p.558-565

1998

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Integrated regional genetic services: current and future provision

BMJ (Online), 2001-04, Vol.322 (7293), p.1048-1052

2001

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Fetal valproate syndrome

Journal of medical genetics, 1995-09, Vol.32 (9), p.724-727

1995

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The mutational spectrum in Waardenburg syndrome

Human molecular genetics, 1995-11, Vol.4 (11), p.2131-2137

1995

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A Clinical Study of Type 2 Neurofibromatosis

QJM : An International Journal of Medicine, 1992-08

1992

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Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

Journal of medical genetics, 1999-05, Vol.36 (5), p.405-411

1999

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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

American journal of human genetics, 2007-06, Vol.80 (6), p.1162-1170

2007

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Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

Journal of medical genetics, 1997-10, Vol.34 (10), p.819-826

1997

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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Dysmorphology services: a snapshot of current practices and a vision for the future

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

Incontinentia pigmenti (Bloch-Sulzberger syndrome)

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

A clinical study of type 1 neurofibromatosis in north west England

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

Integrated regional genetic services: current and future provision

Fetal valproate syndrome

The mutational spectrum in Waardenburg syndrome

A Clinical Study of Type 2 Neurofibromatosis

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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