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P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III

Genetics in Medicine Open, 2024, Vol.2, p.101268, Article 101268

2024

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Technology‐enabled personalized learning: A promising practice in need of robust research

School science and mathematics, 2020-01, Vol.120 (1), p.1-3

2020

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Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

International journal of molecular sciences, 2022-12, Vol.23 (23), p.14938

2022

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Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Frontiers in genetics, 2022-09, Vol.13, p.1001154-1001154

2022

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Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III

Molecular genetics and metabolism reports, 2024-09, Vol.40, p.101117, Article 101117

2024

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Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100661, Article 100661

2020

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The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100729, Article 100729

2021

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Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100989-100989, Article 100989

2023

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Atypical neurological presentation in Gaucher disease type 3C

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108072, Article 108072

2024

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Developmental science efficacy trajectories of novice teachers from a STEM-Focused program: A longitudinal mixed-methods investigation

Teaching and teacher education, 2019-01, Vol.77, p.253-265

2019

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GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107157, Article 107157

2023

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Co-existing genetic disorders in Pompe disease: Exome analysis of a large Pompe disease cohort identifies disease-modifying cryptic dual diagnoses

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108214, Article 108214

2024

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Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107886, Article 107886

2024

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Mathematics teaching efficacy and developmental trajectories: A mixed-methods investigation of novice K-5 teachers

Teaching and teacher education, 2020-01, Vol.87, p.102953, Article 102953

2020

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eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients

Genetics in medicine, 2022-03, Vol.24 (3), p.S9-S10

2022

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Targeted long-read sequencing identifies missing disease-causing variation

American journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449

2021

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Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107158, Article 107158

2023

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eP041 - Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening

Molecular genetics and metabolism, 2021-04, Vol.132, p.S28-S29

2021

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Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening

Molecular genetics and metabolism, 2021-04, Vol.132, p.S28-S29

2021

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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

Molecular genetics and metabolism, 2022-03, Vol.135 (3), p.179-185

2022

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Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S57-S57

2022

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Developmental trajectories for novice teachers: teaching efficacy, instructional beliefs, and domain knowledge

International journal of science education, 2022-05, Vol.44 (8), p.1277-1298

2022

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The Global ALPL gene variant classification project: Dedicated to deciphering variants

Bone (New York, N.Y.), 2024-01, Vol.178, p.116947-116947, Article 116947

2024

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Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S26-S27

2021

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Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

JIMD reports, 2024-09, Vol.65 (5), p.313-322

2024

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P374: A novel variant causing BCAP31-related syndrome in a male incidentally found to have glutaric aciduria III

Technology‐enabled personalized learning: A promising practice in need of robust research

Glucosylsphingosine (Lyso-Gb 1 ): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening

Atypical neurological presentation in Gaucher disease type 3C

Developmental science efficacy trajectories of novice teachers from a STEM-Focused program: A longitudinal mixed-methods investigation

GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses

Co-existing genetic disorders in Pompe disease: Exome analysis of a large Pompe disease cohort identifies disease-modifying cryptic dual diagnoses

Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States

Mathematics teaching efficacy and developmental trajectories: A mixed-methods investigation of novice K-5 teachers

eP014: Establishment of a clinically validated in vitro functional assay to score pathogenicity of novel GAA variants in Pompe patients

Targeted long-read sequencing identifies missing disease-causing variation

Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening

eP041 - Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening

Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening

Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening

Developmental trajectories for novice teachers: teaching efficacy, instructional beliefs, and domain knowledge

The Global ALPL gene variant classification project: Dedicated to deciphering variants

Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

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