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Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Genetics in medicine, 2017-12, Vol.19 (12), p.1367-1375

2017

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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

The American journal of clinical nutrition, 2011, Vol.93 (1), p.47-56

2011

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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Allergy, asthma, and clinical immunology, 2019-05, Vol.15 (1), p.32-4, Article 32

2019

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

HGG advances, 2022-01, Vol.3 (1), p.100074, Article 100074

2022

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Pitfalls of clinical exome and gene panel testing: alternative transcripts

Genetics in medicine, 2019-05, Vol.21 (5), p.1240-1245

2019

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Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

Genetics in medicine, 2021-11, Vol.23 (11), p.2229-2229

2021

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

American journal of human genetics, 2024-07, Vol.111 (7), p.1330-1351

2024

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1333-1348

2020

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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Journal of neurology, 2015-09, Vol.262 (9), p.2124-2134

2015

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A case study of atypical Larsen syndrome with absent hallmark joint dislocations

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e648-n/a

2019

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Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2075-2084

2015

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Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

Pediatric research, 2008-10, Vol.64 (4), p.358-363

2008

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Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Cold Spring Harbor molecular case studies, 2018-06, Vol.4 (3), p.a002360

2018

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

Molecular genetics & genomic medicine, 2018-03, Vol.6 (2), p.200-212

2018

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Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

Cold Spring Harbor molecular case studies, 2017-11, Vol.3 (6), p.a002055

2017

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Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e629-n/a

2019

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Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency

Mitochondrion, 2012-09, Vol.12 (5), p.562-563

2012

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Nature genetics, 2011-09, Vol.43 (9), p.883-886

2011

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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations1234

The American journal of clinical nutrition, 2011-01, Vol.93 (1), p.47-56

2011

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PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases

Mitochondrion, 2012-09, Vol.12 (5), p.588-589

2012

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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2019, Vol.15, p.32-32

2019

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100 Years of Suramin

Antimicrobial agents and chemotherapy, 2020-02, Vol.64 (3)

2020

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Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S70-S72

Hauser, Natalie

2021

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eP102 - Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?

Molecular genetics and metabolism, 2021-04, Vol.132, p.S70-S72

Hauser, Natalie

2021

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Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Pitfalls of clinical exome and gene panel testing: alternative transcripts

Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

A case study of atypical Larsen syndrome with absent hallmark joint dislocations

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations1234

PCR-based target sequence enrichment and next generation sequencing of 24 nuclear genes for the diagnosis of mitochondrial disorders: Yield of 262 cases

Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause

100 Years of Suramin

Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?

eP102 - Novel HIVEP2 pathogenic variant in a patient with rapid, severe brain atrophy. Second condition, or expansion of the phenotype?

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