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P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations

Genetics in Medicine Open, 2024, Vol.2, p.101141, Article 101141

2024

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P149: Exome sequencing vs chromosomal microarray for copy number variant detection

Genetics in Medicine Open, 2024, Vol.2, p.101046, Article 101046

2024

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A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

JIMD Reports, Volume 43, 2019, Vol.43, p.79-83

2019

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P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

Genetics in Medicine Open, 2024, Vol.2, p.101111, Article 101111

2024

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P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Genetics in Medicine Open, 2024, Vol.2, p.101091, Article 101091

2024

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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

PLoS genetics, 2018-10, Vol.14 (10), p.e1007748-e1007748

2018

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P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU

Genetics in Medicine Open, 2023, Vol.1 (1), p.100236, Article 100236

2023

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P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100450, Article 100450

2023

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Phenotypic Complexity and the Likelihood of a Diagnostic Result in a Sequencing Test of 2,300+ Genes Associated with Autism Spectrum Disorders and/or Intellectual Disability (P2.1-006)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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eP281: SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU

Genetics in medicine, 2022-03, Vol.24 (3), p.S178-S178

2022

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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.300-303

2021

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EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17.004)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.271-279

2021

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eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

Molecular genetics and metabolism, 2021-04, Vol.132, p.S99-S99

2021

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Erratum: Lessons from a pair of siblings with BPAN

European journal of human genetics : EJHG, 2016-06, Vol.24 (7), p.1095-1095

2016

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Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

HGG advances, 2023-01, Vol.4 (1), p.100168-100168

2023

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Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases

Mitochondrion, 2015-09, Vol.24, p.S44

2015

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Messenger RNA profiling: A prototype method for body fluid and tissue identification

Juusola, Jane S

2005

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Congenital methemoglobinemia type II in a 5-year-old boy

Clinical case reports, 2018, Vol.6 (1), p.170-178

2018

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ChemInform Abstract: Influence of Polyamine Architecture on the Transport and Topoisomerase II Inhibitory Properties of Polyamine DNA-Intercalator Conjugates

ChemInform, 2002-02, Vol.33 (8), p.no-no

2002

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P245: Oldest reported patients with RAB18 deficiency due to RAB3GAP1 gene mutations

P149: Exome sequencing vs chromosomal microarray for copy number variant detection

A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU

P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Phenotypic Complexity and the Likelihood of a Diagnostic Result in a Sequencing Test of 2,300+ Genes Associated with Autism Spectrum Disorders and/or Intellectual Disability (P2.1-006)

eP281: SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent

EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17.004)

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

eP148 - Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Erratum: Lessons from a pair of siblings with BPAN

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases

Messenger RNA profiling: A prototype method for body fluid and tissue identification

Congenital methemoglobinemia type II in a 5-year-old boy

ChemInform Abstract: Influence of Polyamine Architecture on the Transport and Topoisomerase II Inhibitory Properties of Polyamine DNA-Intercalator Conjugates

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