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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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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.411-421

2021

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Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant

European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.126-132

2022

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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.753-760

2015

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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1061-1071

2019

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Further delineation of the KAT6B molecular and phenotypic spectrum

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170

2015

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.556-561

2016

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Genetic determination of human facial morphology: links between cleft-lips and normal variation

European journal of human genetics : EJHG, 2011-11, Vol.19 (11), p.1192-1197

2011

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.289-292

2014

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A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.582-590

2009

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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.935-945

2017

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.1032-1032

2024

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Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)

European journal of human genetics : EJHG, 2022, Vol.30 (SUPPL 1, 1), p.562-563

2022

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.461-468

2023

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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.183-191

2017

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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.889-893

2017

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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.881-887

2014

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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1724-1729

2016

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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1739-1745

2016

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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.762-767

2014

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1592-1599

2009

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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.879-890

2004

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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.507-512

2011

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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

European journal of human genetics : EJHG, 2017-10, Vol.25 (10), p.1126-1133

2017

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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1349-1355

2013

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

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Further delineation of the KAT6B molecular and phenotypic spectrum

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

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