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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

BMC genomics, 2024-04, Vol.25 (1), p.371-371, Article 371

2024

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Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice

Genetics (Austin), 2020-01, Vol.214 (1), p.121-134

2020

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Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy

Molecular vision, 2020, Vol.26, p.257-276

2020

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Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2442-2449

2020

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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Brain sciences, 2021-07, Vol.11 (7), p.931

2021

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Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease

Journal of clinical immunology, 2020-10, Vol.40 (7), p.1056-1061

2020

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Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1966-n/a

2022

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Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1341-n/a

2020

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A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition

Neuro-oncology advances, 2024-01, Vol.6 (1), p.vdad163-vdad163

2024

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Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia

Laboratory medicine, 2022-07, Vol.53 (4), p.e87-e90

2022

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Genetic basis of age-dependent synaptic abnormalities in the retina

Mammalian genome, 2015-02, Vol.26 (1-2), p.21-32

2015

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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

European journal of medical genetics, 2020-04, Vol.63 (4), p.103850-103850, Article 103850

2020

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O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases

Genetics in Medicine Open, 2023, Vol.1 (1), p.100703, Article 100703

2023

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A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

Cold Spring Harbor molecular case studies, 2020-08, Vol.6 (4), p.a005165

2020

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P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

Genetics in Medicine Open, 2023, Vol.1 (1), p.100089, Article 100089

2023

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P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

Genetics in Medicine Open, 2023, Vol.1 (1), p.100719, Article 100719

2023

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Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

Child neurology open, 2020-01, Vol.7, p.2329048-2329048X20955003

2020

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eP183: Functional assessment of a novel POU4F3 missense variant

Genetics in medicine, 2022-03, Vol.24 (3), p.S113-S114

2022

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Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

Mammalian genome, 2011-12, Vol.22 (11-12), p.714-721

2011

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An adult with acylglycerol kinase deficiency

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108311, Article 108311

2024

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eP279 - Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Molecular genetics and metabolism, 2021-04, Vol.132, p.S177-S177

2021

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eP485 - Prenatal diagnosis of an FLNB associated skeletal dysplasia

Molecular genetics and metabolism, 2021-04, Vol.132, p.S312-S312

2021

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

Loss of Chondroitin Sulfate Modification Causes Inflammation and Neurodegeneration in skt Mice

Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn’s Disease

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition

Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia

Genetic basis of age-dependent synaptic abnormalities in the retina

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases

A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C

P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

eP183: Functional assessment of a novel POU4F3 missense variant

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype

An adult with acylglycerol kinase deficiency

eP279 - Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

eP485 - Prenatal diagnosis of an FLNB associated skeletal dysplasia

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