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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.74-74, Article 74

2014

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Dysmorphology at a distance: results of a web-based diagnostic service

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.327-332

2014

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Clinical epigenetics, 2016-01, Vol.89 (1), p.74-81

2016

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Molecular and clinical studies in 8 patients with Temple syndrome

Clinical genetics, 2018-06, Vol.93 (6), p.1179-1188

2018

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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Clinical genetics, 2012-08, Vol.82 (2), p.140-146

2012

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A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

Journal of human genetics, 2017-11, Vol.62 (11), p.1005-1006

2017

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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Human mutation, 2017-08, Vol.38 (8), p.942-946

2017

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Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1400-1405

2017

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Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2404-2407

2016

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Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular syndromology, 2014-08, Vol.5 (5), p.201-211

2014

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Elements of morphology: Standard terminology for the ear

American journal of medical genetics. Part A, 2009-01, Vol.149A (1), p.40-60

2009

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Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

European journal of medical genetics, 2023-07, Vol.66 (7), p.104774-104774, Article 104774

2023

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Phenotypes and genotypes in individuals with SMC1A variants

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2108-2125

2017

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Clinical genetics, 2016-05, Vol.89 (5), p.564-573

2016

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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Human genetics, 2017-03, Vol.136 (3), p.307-320

2017

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.894-905

2009

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Nature genetics, 2006-03, Vol.38 (3), p.294-296

2006

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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.28-35

2008

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The adult phenotype of Schaaf-Yang syndrome

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-294, Article 294

2020

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Phenotype and genotype in Nicolaides-Baraitser syndrome

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Dysmorphology at a distance: results of a web-based diagnostic service

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Molecular and clinical studies in 8 patients with Temple syndrome

ANKRD11 variants: KBG syndrome and beyond

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Elements of morphology: Standard terminology for the ear

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing

Phenotypes and genotypes in individuals with SMC1A variants

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

The adult phenotype of Schaaf-Yang syndrome

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