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X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

Neurobiology of disease, 2021-01, Vol.148, p.105176-105176, Article 105176

2021

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain (London, England : 1878), 2020-04, Vol.143 (4), p.1114-1126

2020

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Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism

The Journal of clinical investigation, 2012-08, Vol.122 (8), p.2807-2816

2012

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Nature genetics, 2015-04, Vol.47 (4), p.338-344

2015

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Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.102-102, Article 102

2021

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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.20-20, Article 20

2021

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Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

The Journal of clinical investigation, 2009-04, Vol.119 (4), p.1042-1050

2009

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A human case of SLC35A3‐related skeletal dysplasia

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2758-2762

2017

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1321-1332

2020

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Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Briefings in bioinformatics, 2023-09, Vol.24 (5)

2023

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Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)

American journal of medical genetics. Part A, 2024-08, p.e63833

2024

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Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

International journal of neonatal screening, 2022-03, Vol.8 (2), p.24

2022

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A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic

Clinical chemistry (Baltimore, Md.), 2022-07, Vol.68 (7), p.987-989

2022

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Coagulation abnormalities and vascular complications are common in PGM1-CDG

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108530, Article 108530

2024

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Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107682-107682, Article 107682

2023

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Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1626-1631

2023

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Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol

PLoS genetics, 2011-12, Vol.7 (12), p.e1002393

2011

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

American journal of human genetics, 2019-05, Vol.104 (5), p.835-846

2019

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Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

JIMD Reports, Volume 33, 2017-01, Vol.33, p.93-97

2017

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Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

Annals of neurology, 2021-12, Vol.90 (6), p.887-900

2021

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Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation

Molecular genetics and metabolism, 2023-06, Vol.139 (2), p.107606-107606, Article 107606

2023

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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108513-108513, Article 108513

2024

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Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.766-777

2024

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X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

Expanding the phenotypic spectrum of ARCN1-related syndrome

A human case of SLC35A3‐related skeletal dysplasia

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1)

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic

Coagulation abnormalities and vascular complications are common in PGM1-CDG

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeutic Implications

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

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