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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Nature communications, 2017-10, Vol.8 (1), p.1052-12, Article 1052

2017

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Journal of medical genetics, 2009-09, Vol.46 (9), p.598-606

2009

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De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

Clinical genetics, 2016-11, Vol.90 (5), p.413-419

2016

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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Genetics in medicine, 2021-04, Vol.23 (4), p.645-652

2021

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Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Journal of medical genetics, 2010-09, Vol.47 (9), p.586-594

2010

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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

European journal of medical genetics, 2009-03, Vol.52 (2), p.77-87

2009

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Pathogenic or not? Assessing the clinical relevance of copy number variants

Clinical genetics, 2013-11, Vol.84 (5), p.415-421

2013

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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Human genetics, 2017-02, Vol.136 (2), p.179-192

2017

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Journal of medical genetics, 2008-11, Vol.45 (11), p.710-720

2008

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A novel pathogenic mutation in the HIVEP2 gene in a patient with Angelman-like syndrome and hyperphagia

European journal of paediatric neurology, 2017-06, Vol.21, p.e47-e47

2017

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Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Clinical genetics, 2018-04, Vol.93 (4), p.880-890

2018

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Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient

International medical case reports journal, 2022-01, Vol.15, p.753-759

2022

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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Clinical genetics, 2018-05, Vol.93 (5), p.1030-1038

2018

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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

Human genetics, 2015-10, Vol.134 (10), p.1089-1097

2015

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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

Clinical genetics, 2018-05, Vol.93 (5), p.1000-1007

2018

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32 GENOME WIDE ANALYSIS IDENTIFIES MITOTIC RECOMBINATION AS CAUSE OF SOMATIC LOSS OF HETEROZYGOSITY IN CYSTS FROM POLYCYSTIC LIVER DISEASE PATIENTS

Journal of hepatology, 2012-04, Vol.56, p.S14-S14

2012

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Journal of medical genetics, 2012-02, Vol.49 (2), p.104-109

2012

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Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Neuromuscular disorders : NMD, 2012-07, Vol.22 (7), p.632-639

2012

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Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines

Oncogene, 2006-03, Vol.25 (10), p.1571-1583

2006

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Genetics in Medicine Open, 2024, Vol.2, p.101873, Article 101873

2024

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Uniparental disomy (UPD) in the human blastocyst is exceedingly rare

Fertility and sterility, 2013-09, Vol.100 (3), p.S132-S132

2013

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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

Journal of medical genetics, 2008-02, Vol.45 (2), p.81-86

2008

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Pathogenic or not? Assessing the clinical relevance of copy number variants

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

A novel pathogenic mutation in the HIVEP2 gene in a patient with Angelman-like syndrome and hyperphagia

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

32 GENOME WIDE ANALYSIS IDENTIFIES MITOTIC RECOMBINATION AS CAUSE OF SOMATIC LOSS OF HETEROZYGOSITY IN CYSTS FROM POLYCYSTIC LIVER DISEASE PATIENTS

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Uniparental disomy (UPD) in the human blastocyst is exceedingly rare

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation

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