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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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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.49-57

2020

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

American journal of human genetics, 2015-07, Vol.97 (1), p.99-110

2015

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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

The Journal of clinical investigation, 2011-03, Vol.121 (3), p.976-984

2011

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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

American journal of human genetics, 2016-02, Vol.98 (2), p.339-346

2016

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PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

JCI insight, 2019-02, Vol.4 (4)

2019

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Detection of phosphoglucomutase-3 (PGM3) deficiency by lectin-based flow cytometry

Journal of allergy and clinical immunology, 2017-07, Vol.140 (1), p.291-294.e4

2017

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Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B

The Journal of pediatrics, 2016-12, Vol.179, p.144-149.e2

2016

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Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Disease models & mechanisms, 2020-05, Vol.13 (5)

2020

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Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Hypertension (Dallas, Tex. 1979), 2022-01, Vol.79 (1), p.60-75

2022

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SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Human mutation, 2019-07, Vol.40 (7), p.908-925, Article humu.23731

2019

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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Human molecular genetics, 2015-06, Vol.24 (11), p.3050-3057

2015

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Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Journal of allergy and clinical immunology, 2014-05, Vol.133 (5), p.1400-1409.e5

2014

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Impaired Glycosylation Due To Autosomal Recessive PGM3 Mutations Results In Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment

Journal of allergy and clinical immunology, 2014-02, Vol.133 (2), p.AB161-AB161

2014

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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

Journal of medical genetics, 2017-02, Vol.54 (2), p.84

2017

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Genetics in medicine, 2020-10, Vol.22 (10), p.1598-1605

2020

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The Elusive Magic Pill: Finding Effective Therapies for Mitochondrial Disorders

Neurotherapeutics, 2013-04, Vol.10 (2), p.320-328

2013

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Congenital disorders of glycosylation and intellectual disability

Developmental disabilities research reviews, 2013-06, Vol.17 (3), p.211-225

2013

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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.326-334

2023

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A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Human molecular genetics, 2018-02, Vol.27 (4), p.691-705

2018

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Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Human mutation, 2019-01, Vol.40 (1), p.42-47

2019

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Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Journal of medical genetics, 2016-03, Vol.53 (3), p.180-189

2016

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LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Journal of human genetics, 2011-07, Vol.56 (7), p.516-523

2011

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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

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

Detection of phosphoglucomutase-3 (PGM3) deficiency by lectin-based flow cytometry

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Impaired Glycosylation Due To Autosomal Recessive PGM3 Mutations Results In Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

The Elusive Magic Pill: Finding Effective Therapies for Mitochondrial Disorders

Congenital disorders of glycosylation and intellectual disability

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

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