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Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

Human mutation, 2018-06, Vol.39 (6), p.790-805

2018

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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Human mutation, 2021-07, Vol.42 (7), p.848-861

2021

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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype

Annals of neurology, 2018-02, Vol.83 (2), p.437-439

2018

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.663-668

2019

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Human genetics, 2021-06, Vol.140 (6), p.885-896

2021

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Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

Human mutation, 2018-12, Vol.39 (12), p.2110-2112

2018

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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.324-332

2020

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New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1965-1975

2014

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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e786-n/a

2019

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

American journal of human genetics, 2021-05, Vol.108 (5), p.951-961

2021

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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.928-937

2024

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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human molecular genetics, 2022-09, Vol.31 (19), p.3325-3340

2022

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Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

Annals of clinical biochemistry, 2018-09, Vol.55 (5), p.543-552

2018

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Genomic medicine, 2017-10, Vol.2 (1), p.32-9, Article 32

2017

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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Human mutation, 2018-12, Vol.39 (12), p.2110-2112

2018

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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.85-93

2018

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Early fetal presentation of Koolen-de Vries: Case report with literature review

European journal of medical genetics, 2017-11, Vol.60 (11), p.605-609

2017

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SCA27 is a cause of early-onset ataxia and developmental delay

European journal of paediatric neurology, 2015-03, Vol.19 (2), p.271-273

2015

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Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.90-97

2013

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Use of Gene Expression Profiles of Peripheral Blood Lymphocytes to Distinguish BRCA1 Mutation Carriers in High Risk Breast Cancer Families

Cancer informatics, 2009-01, Vol.2009 (7), p.41-56

2009

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First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

Clinical dysmorphology, 2017-10, Vol.26 (4), p.231-234

2017

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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome

Clinical genetics, 2024-11

2024

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Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia

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

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

Early fetal presentation of Koolen-de Vries: Case report with literature review

SCA27 is a cause of early-onset ataxia and developmental delay

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

Use of Gene Expression Profiles of Peripheral Blood Lymphocytes to Distinguish BRCA1 Mutation Carriers in High Risk Breast Cancer Families

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome

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