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A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Human genetics, 2018-04, Vol.137 (4), p.315-328

2018

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Journal of medical genetics, 2002-09, Vol.39 (9), p.623-633

2002

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

Clinical genetics, 2015-11, Vol.88 (5), p.468-473

2015

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Pediatric Genetics

The Pediatric clinics of North America, 2023-10, Vol.70 (5), p.i-i

2023

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Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Human genetics, 2018-05, Vol.137 (5), p.427-428

2018

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Clinical genetics, 2017-08, Vol.92 (2), p.221-223

2017

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Expanding the Clinical Spectrum Associated With GLIS3 Mutations

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1362-E1369

2015

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KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.292-300

2007

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Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.3069-3078

2007

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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.539-542

2009

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Unfolding the role of chaperones and chaperonins in human disease

Trends in Genetics, 2001-09, Vol.17 (9), p.528-535

2001

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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

The New England journal of medicine, 2020-10, Vol.383 (18), p.1746-1756

2020

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Human genetics, 2002-06, Vol.110 (6), p.561-567

2002

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Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.950-958

2007

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Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Clinical genetics, 2013-10, Vol.84 (4), p.392-393

2013

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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Human molecular genetics, 2013-02, Vol.22 (4), p.696-703

2013

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Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

Journal of medical genetics, 2009-07, Vol.46 (7), p.480-489

2009

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Fryns syndrome: A review of the phenotype and diagnostic guidelines

American journal of medical genetics, 2004-02, Vol.124A (4), p.427-433

Slavotinek, Anne M.

2004

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Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

Clinical genetics, 2014-02, Vol.85 (2), p.194-197

2014

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Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

Neurology, 2005-11, Vol.65 (9), p.1496

2005

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Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia

Ophthalmic genetics, 2017-07, Vol.38 (4), p.371-375

2017

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Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Journal of medical genetics, 2005-09, Vol.42 (9), p.730-736

2005

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Genetic modifiers in human development and malformation syndromes, including chaperone proteins

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R45-R50

2003

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Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Clinical genetics, 2009-05, Vol.75 (5), p.429-439

2009

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Mutations in MKKS cause Bardet-Biedl syndrome

Nature genetics, 2000-09, Vol.26 (1), p.15-16

2000

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A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

Pediatric Genetics

Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria

Subtypes of frontonasal dysplasia are useful in determining clinical prognosis

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

Unfolding the role of chaperones and chaperonins in human disease

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

Fryns syndrome: A review of the phenotype and diagnostic guidelines

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Genetic modifiers in human development and malformation syndromes, including chaperone proteins

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Mutations in MKKS cause Bardet-Biedl syndrome

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