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Myocarditis and Pericarditis After Vaccination for COVID-19

JAMA : the journal of the American Medical Association, 2021-09, Vol.326 (12), p.1210

2021

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A simplified pneumonia severity index (PSI) for clinical outcome prediction in COVID-19

PloS one, 2024-05, Vol.19 (5), p.e0303899-e0303899

2024

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First Case of 2019 Novel Coronavirus in the United States

The New England journal of medicine, 2020-03, Vol.382 (10), p.929-936

2020

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Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-332, Article 332

2022

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The role and control of arginine levels in arginase 1 deficiency

Journal of inherited metabolic disease, 2023-01, Vol.46 (1), p.3-14

2023

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Comparative vaccine effectiveness against severe COVID-19 over time in US hospital administrative data: a case-control study

The lancet respiratory medicine, 2022-06, Vol.10 (6), p.557-565

2022

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Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.14-20

2016

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Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Nature biotechnology, 2016-05, Vol.34 (5), p.531-538

2016

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Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.829-838

2018

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Border Policing: A History of Enforcement and Evasion in North America

First, 2020

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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.437-437, Article 437

2022

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

PLoS genetics, 2016-04, Vol.12 (4), p.e1005848-e1005848

2016

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Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management

Pediatric transplantation, 2016-09, Vol.20 (6), p.756-769

2016

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One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Genetics in medicine, 2021-08, Vol.23 (8), p.1543-1550

2021

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Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.94-94, Article 94

2023

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Surveillance of guideline practices for duodenoscope and linear echoendoscope reprocessing in a large healthcare system

Gastrointestinal endoscopy, 2016-09, Vol.84 (3), p.392-399.e3

2016

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Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic

Telemedicine journal and e-health, 2024-01, Vol.30 (1), p.118

2024

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TRPC6 inhibitor (BI 764198) to reduce risk and severity of ARDS due to COVID-19: a phase II randomised controlled trial

Thorax, 2023-08, Vol.78 (8), p.816-824

2023

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Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.153-163

2022

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Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.245-252

2020

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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.88-97

2015

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A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features

Clinical genetics, 2020-12, Vol.98 (6), p.606-612

2020

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Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

European journal of human genetics : EJHG, 2017-02, Vol.25 (3), p.280-292

2017

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Remdesivir and Mortality in Patients With Coronavirus Disease 2019

Clinical infectious diseases, 2022-05, Vol.74 (10), p.1812-1820

2022

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Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.55-55, Article 55

2023

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Myocarditis and Pericarditis After Vaccination for COVID-19

A simplified pneumonia severity index (PSI) for clinical outcome prediction in COVID-19

First Case of 2019 Novel Coronavirus in the United States

Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice

The role and control of arginine levels in arginase 1 deficiency

Comparative vaccine effectiveness against severe COVID-19 over time in US hospital administrative data: a case-control study

Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

Border Policing: A History of Enforcement and Evasion in North America

Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults

Surveillance of guideline practices for duodenoscope and linear echoendoscope reprocessing in a large healthcare system

Patient and Provider Experiences and Views on the Use of Telehealth in Genetics Clinics in Response to the COVID-19 Pandemic

TRPC6 inhibitor (BI 764198) to reduce risk and severity of ARDS due to COVID-19: a phase II randomised controlled trial

Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

Remdesivir and Mortality in Patients With Coronavirus Disease 2019

Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results

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