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Common genetic variants on 5p14.1 associate with autism spectrum disorders

Nature, 2009-05, Vol.459 (7246), p.528-533

2009

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Global medical genetics, 2024-01, Vol.11 (1), p.100-112

2024

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Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

Human molecular genetics, 2012-08, Vol.21 (15), p.3513-3523

2012

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P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome

Genetics in Medicine Open, 2024, Vol.2, p.101567, Article 101567

2024

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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in medicine, 2024-03, Vol.26 (3), p.101036, Article 101036

2024

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Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

Human molecular genetics, 2008-07, Vol.17 (14), p.2212-2218

2008

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Genetic analysis of biological pathway data through genomic randomization

Human genetics, 2011-05, Vol.129 (5), p.563-571

2011

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The Association between Bone Mineral Density, Metacarpal Morphometry, and Upper Limb Fractures in Children: A Population-Based Case-Control Study

The journal of clinical endocrinology and metabolism, 2003-04, Vol.88 (4), p.1486-1491

2003

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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Molecular autism, 2011-01, Vol.2 (1), p.1-1, Article 1

2011

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Case report: mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated nemaline myopathy

Molecular genetics and metabolism, 2021-04, Vol.132, p.S283

2021

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eP442 - Case report: mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated nemaline myopathy

Molecular genetics and metabolism, 2021-04, Vol.132, p.S283-S283

2021

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P503: Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm

Genetics in Medicine Open, 2023, Vol.1 (1), p.100550, Article 100550

2023

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P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program

Genetics in Medicine Open, 2024, Vol.2, p.101246, Article 101246

2024

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Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

PloS one, 2011-10, Vol.6 (10), p.e26049-e26049

2011

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O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine Open, 2023, Vol.1 (1), p.100457, Article 100457

2023

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The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

Autism research, 2012-12, Vol.5 (6), p.385-397

2012

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Determinants of Skeletal Age Deviation in a Cross-Sectional Study

The journal of clinical endocrinology and metabolism, 2008-02, Vol.93 (2), p.521-526

2008

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Knee articular cartilage development in children: A longitudinal study of the effect of sex, growth, body composition, and physical activity

Pediatric research, 2003-08, Vol.54 (2), p.230-236

2003

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Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study

Journal of clinical densitometry, 2006-04, Vol.9 (2), p.202-209

2006

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eP441 - A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract

Molecular genetics and metabolism, 2021-04, Vol.132, p.S283-S283

2021

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A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract

Molecular genetics and metabolism, 2021-04, Vol.132, p.S283

2021

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Not Just Pruritic Papules: A Potential Role of AMPK in Hypertriglyceridemia

Journal of clinical lipidology, 2017-05, Vol.11 (3), p.776-777

2017

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Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

Neurogenetics, 2006-07, Vol.7 (3), p.167-174

2006

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Skeletal age deviation assessed by the Tanner–Whitehouse 2 method is associated with bone mass and fracture risk in children

Bone (New York, N.Y.), 2005-02, Vol.36 (2), p.352-357

2005

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eP154 - Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

Molecular genetics and metabolism, 2021-04, Vol.132, p.S102-S103

2021

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Common genetic variants on 5p14.1 associate with autism spectrum disorders

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

P662: Updates on phenotypic spectrum and genotype-phenotype correlation of WDFY3-related syndrome

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate

Genetic analysis of biological pathway data through genomic randomization

The Association between Bone Mineral Density, Metacarpal Morphometry, and Upper Limb Fractures in Children: A Population-Based Case-Control Study

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Case report: mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated nemaline myopathy

eP442 - Case report: mosaic maternal segmental isodisomy at 2q14.2-qter as a novel cause of NEB-associated nemaline myopathy

P503: Historical prospective study of the link between JAK2-V617F and thoracic aortic aneurysm

P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

Determinants of Skeletal Age Deviation in a Cross-Sectional Study

Knee articular cartilage development in children: A longitudinal study of the effect of sex, growth, body composition, and physical activity

Bone Density Interpretation and Relevance in Caucasian Children Aged 9–17 Years of Age: Insights From a Population-Based Fracture Study

eP441 - A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract

A genotype-first-approach for disease-gene validity investigation on COL4A1-asscoiated congenital anomalies of the kidney and urinary tract

Not Just Pruritic Papules: A Potential Role of AMPK in Hypertriglyceridemia

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

Skeletal age deviation assessed by the Tanner–Whitehouse 2 method is associated with bone mass and fracture risk in children

eP154 - Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

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