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Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology

Research in developmental disabilities, 2011-03, Vol.32 (2), p.643-652

2011

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Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)

Stem cell research, 2020-12, Vol.49, p.102087, Article 102087

2020

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Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome

Stem cell research, 2020-12, Vol.49, p.102092, Article 102092

2020

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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

Npj genomic medicine, 2021-09, Vol.6 (1), p.74-74, Article 74

2021

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Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

Translational psychiatry, 2016-07, Vol.6 (7), p.e855-e855

2016

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Clinical implication of FMR1 intermediate alleles in a Spanish population

Clinical genetics, 2018-07, Vol.94 (1), p.153-158

2018

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A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

Human molecular genetics, 1997-03, Vol.6 (3), p.465-472

1997

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Human molecular genetics, 2009-05, Vol.18 (10), p.1795-1804

2009

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Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Molecular psychiatry, 2010-10, Vol.15 (10), p.1023-1033

2010

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Journal of medical genetics, 2010-05, Vol.47 (5), p.312-320

2010

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A Duplicated Gene in the Breakpoint Regions of the 7q11.23 Williams-Beuren Syndrome Deletion Encodes the Initiator Binding Protein TFII-I and BAP-135, a Phosphorylation Target of BTK

Human molecular genetics, 1998-03, Vol.7 (3), p.325-334

1998

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X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

BMC genomics, 2007-11, Vol.8 (1), p.443-443, Article 443

2007

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Lateral preference in Williams–Beuren syndrome is associated with cognition and language

European child & adolescent psychiatry, 2015-09, Vol.24 (9), p.1025-1033

2015

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MAPT gene duplications are not a cause of frontotemporal lobar degeneration

Neuroscience letters, 2007-08, Vol.424 (1), p.61-65

2007

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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

American journal of human genetics, 1996-10, Vol.59 (4), p.781-792

1996

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Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3

Human molecular genetics, 1994-04, Vol.3 (4), p.553-557

1994

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Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Archives of disease in childhood, 2014-10, Vol.99 (10), p.965-967

2014

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De novo copy number variants associated with intellectual disability have a paternal origin and age bias

Journal of medical genetics, 2011-11, Vol.48 (11), p.776-778

2011

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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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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Journal of Child Neurology, 2019-07, Vol.34 (8), p.472-476

2019

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

NATURE COMMUNICATIONS, 2020-10, Vol.11 (1)

2020

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

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Simple method for cystic fibrosis carrier screening

The Lancet (British edition), 1992-10, Vol.340 (8825), p.983-984

1992

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Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

Genome research, 2005-09, Vol.15 (9), p.1179-1188

2005

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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

The New England journal of medicine, 2005-10, Vol.353 (16), p.1694-1701

2005

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Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology

Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)

Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

Clinical implication of FMR1 intermediate alleles in a Spanish population

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

A Duplicated Gene in the Breakpoint Regions of the 7q11.23 Williams-Beuren Syndrome Deletion Encodes the Initiator Binding Protein TFII-I and BAP-135, a Phosphorylation Target of BTK

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Lateral preference in Williams–Beuren syndrome is associated with cognition and language

MAPT gene duplications are not a cause of frontotemporal lobar degeneration

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

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

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Simple method for cystic fibrosis carrier screening

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

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