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Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit

Haematologica (Roma), 2020-03, Vol.105 (3), p.e87-e90

2020

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

The Journal of pediatrics, 2017-03, Vol.182, p.363-370

2017

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An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

PloS one, 2013-02, Vol.8 (2), p.e57460

2013

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Nature genetics, 2002-12, Vol.32 (4), p.614-621

2002

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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

American journal of perinatology reports, 2021-01, Vol.11 (1), p.e26-e28

2021

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Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Developmental neuroscience, 2018-01, Vol.40 (4), p.337-343

2018

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Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-07, Vol.153B (5), p.1042-1051

2010

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Expanding the phenotype of alveolar capillary dysplasia (ACD)

The Journal of pediatrics, 2004-11, Vol.145 (5), p.646-651

2004

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Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

Blood, 2003-11, Vol.102 (10), p.3793-3796

2003

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Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3

PloS one, 2013-03, Vol.8 (3), p.e58830-e58830

2013

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Management of COVID‐19 infection in organic acidemias

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1854-1857

2021

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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.391-399

2012

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Premature Pubarche in Children with Pompe Disease

The Journal of pediatrics, 2015-04, Vol.166 (4), p.1075-1078.e1

2015

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Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Human genetics, 2006-09, Vol.120 (2), p.211-226

2006

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

Journal of neurology, 2020-10, Vol.267 (10), p.3038-3053

2020

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A Novel Mouse Model of Hypogonadotrophic Hypogonadism: N-Ethyl-N-Nitrosourea-Induced Gonadotropin-Releasing Hormone Receptor Gene Mutation

Molecular endocrinology (Baltimore, Md.), 2005-04, Vol.19 (4), p.972-981

2005

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Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia

Clinical dysmorphology, 2012-01, Vol.21 (1), p.24-26

2012

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

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Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

American journal of human genetics, 2002-04, Vol.70 (4), p.955-964

2002

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Genetics in medicine, 2018-10, Vol.20 (10), p.1284-1294

2018

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Endemic Polycythemia in Russia: Mutation in the VHL Gene

Blood cells, molecules, & diseases, 2002-01, Vol.28 (1), p.57-62

2002

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Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Human molecular genetics, 2020-04, Vol.29 (6), p.1054-1054

2020

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Genetics in medicine, 2019-11, Vol.21 (11), p.2543-2551

2019

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Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Nature genetics, 2002-10, Vol.32 (2), p.267-272

2002

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Mutation of PAX9 is associated with oligodontia

Nature genetics, 2000-01, Vol.24 (1), p.18-19

2000

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Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

Expanding the phenotype of alveolar capillary dysplasia (ACD)

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3

Management of COVID‐19 infection in organic acidemias

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

Premature Pubarche in Children with Pompe Disease

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

A Novel Mouse Model of Hypogonadotrophic Hypogonadism: N-Ethyl-N-Nitrosourea-Induced Gonadotropin-Releasing Hormone Receptor Gene Mutation

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Endemic Polycythemia in Russia: Mutation in the VHL Gene

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Mutation of PAX9 is associated with oligodontia

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