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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American journal of human genetics, 2012-08, Vol.91 (2), p.358-364

2012

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Annals of neurology, 2017-04, Vol.81 (4), p.597-603

2017

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Zellweger syndrome and secondary mitochondrial myopathy

European journal of pediatrics, 2015-04, Vol.174 (4), p.557-563

2015

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Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

The New England journal of medicine, 2008-01, Vol.358 (2), p.200-203

2008

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Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study

BMC nephrology, 2014-11, Vol.15 (1), p.182-182, Article 182

2014

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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

American journal of human genetics, 2009-09, Vol.85 (3), p.414-418

2009

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X-linked cataract and Nance-Horan syndrome are allelic disorders

Human molecular genetics, 2009-07, Vol.18 (14), p.2643-2655

2009

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Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype

The Lancet (British edition), 2003-06, Vol.361 (9376), p.2196-2201

2003

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A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.271-274

2017

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Communications biology, 2020-04, Vol.3 (1), p.180-180, Article 180

2020

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Ocular treatment of children with Stuve-Wiedemann syndrome

Cornea, 2012-03, Vol.31 (3), p.269-272

2012

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A complete mutation screen of the ADPKD genes by DHPLC

Kidney international, 2002-05, Vol.61 (5), p.1588-1599

2002

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Consanguinity and child health

Paediatrics and child health, 2008-05, Vol.18 (5), p.244-249

2008

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Monozygotic twins and cholesteatomas: nature or nuture?

European archives of oto-rhino-laryngology, 2023-12, Vol.280 (12), p.5649-5654

2023

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014

2020

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622

2017

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Nature communications, 2020-02, Vol.11 (1), p.1044-12, Article 1044

2020

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature genetics, 2012-08, Vol.44 (8), p.934-940

2012

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Comparison of phenotypes of polycystic kidney disease types 1 and 2

The Lancet (British edition), 1999-01, Vol.353 (9147), p.103-107

1999

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1 Imaging cardiovascular features of a family with type 4 loeys-dietz syndrome

Heart (British Cardiac Society), 2019-05, Vol.105 (Suppl 5), p.A1

2019

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Location of mutations within the PKD2 gene influences clinical outcome

Kidney international, 2000-04, Vol.57 (4), p.1444-1451

2000

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Nature genetics, 2014-12, Vol.46 (12), p.1283-1292

2014

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Zellweger syndrome and secondary mitochondrial myopathy

European journal of pediatrics, 2015-04, Vol.174 (4), p.557-563

2015

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The contribution of X-linked coding variation to severe developmental disorders

Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627

2021

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Zellweger syndrome and secondary mitochondrial myopathy

Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

X-linked cataract and Nance-Horan syndrome are allelic disorders

Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Ocular treatment of children with Stuve-Wiedemann syndrome

A complete mutation screen of the ADPKD genes by DHPLC

Consanguinity and child health

Monozygotic twins and cholesteatomas: nature or nuture?

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Comparison of phenotypes of polycystic kidney disease types 1 and 2

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

1 Imaging cardiovascular features of a family with type 4 loeys-dietz syndrome

Location of mutations within the PKD2 gene influences clinical outcome

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Zellweger syndrome and secondary mitochondrial myopathy

The contribution of X-linked coding variation to severe developmental disorders

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