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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Human mutation, 2019-03, Vol.40 (3), p.288-298

2019

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Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939

Scientific reports, 2016-08, Vol.6 (1), p.30976-30976, Article 30976

2016

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A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.176-176, Article 176

2017

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The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

BMC medical genetics, 2018-05, Vol.19 (1), p.87-87, Article 87

2018

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Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Journal of investigative dermatology, 2017-12, Vol.137 (12), p.2649-2652

2017

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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Human mutation, 2018-10, Vol.39 (10), p.1349-1354

2018

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The matriptase‐prostasin proteolytic cascade in dermatologic diseases

Experimental dermatology, 2020-07, Vol.29 (7), p.580-587

2020

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Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

Matrix biology, 2018-03, Vol.66, p.22-33

2018

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Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

Clinical infectious diseases, 2019-05, Vol.68 (11), p.1938-1941

2019

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An unexpected case of non-uremic calciphylaxis in a patient with multiple risk factors

Dermatology online journal, 2022-12, Vol.28 (6)

2022

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Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Experimental dermatology, 2019-10, Vol.28 (10), p.1118-1121

2019

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Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

Genetics in medicine, 2022-01, Vol.24 (1), p.75-86

2022

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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Matrix biology, 2021-05, Vol.99, p.43-57

2021

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Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1159-1167

2018

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Self-extubation Laryngeal Injuries at an Academic Tertiary Care Center: A Retrospective Pilot Study

Annals of otology, rhinology & laryngology, 2017-07, Vol.126 (7), p.555-560

2017

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Cdc14 and PP2A Phosphatases Cooperate to Shape Phosphoproteome Dynamics during Mitotic Exit

Cell reports (Cambridge), 2019-11, Vol.29 (7), p.2105-2119.e4

2019

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Phosphoproteome dynamics during mitotic exit in budding yeast

The EMBO journal, 2018-05, Vol.37 (10), p.n/a

2018

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cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Nature genetics, 2020-12, Vol.52 (12), p.1364-1372

2020

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Altimetry for the future: Building on 25 years of progress

Advances in space research, 2021-07, Vol.68 (2), p.319-363

2021

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Assessing Budding Yeast Phosphoproteome Dynamics in a Time-Resolved Manner using TMT10plex Mass Tag Labeling

STAR protocols, 2020-06, Vol.1 (1), p.100022-100022, Article 100022

2020

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PP2ACdc55 Phosphatase Imposes Ordered Cell-Cycle Phosphorylation by Opposing Threonine Phosphorylation

Molecular cell, 2017-02, Vol.65 (3), p.393-402.e3

2017

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PP2A Cdc55 Phosphatase Imposes Ordered Cell-Cycle Phosphorylation by Opposing Threonine Phosphorylation

Molecular cell, 2017-02, Vol.65 (3), p.393-402.e3

2017

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Plasma neurofilament light chain is associated with cognitive decline in non-dementia older adults

Scientific reports, 2021-06, Vol.11 (1), p.13394-13394, Article 13394

2021

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Associations Between Physical Activity, Blood-Based Biomarkers of Neurodegeneration, and Cognition in Healthy Older Adults: The MAPT Study

The journals of gerontology. Series A, Biological sciences and medical sciences, 2021-07, Vol.76 (8), p.1382-1390

2021

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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

The matriptase‐prostasin proteolytic cascade in dermatologic diseases

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma

An unexpected case of non-uremic calciphylaxis in a patient with multiple risk factors

Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Self-extubation Laryngeal Injuries at an Academic Tertiary Care Center: A Retrospective Pilot Study

Cdc14 and PP2A Phosphatases Cooperate to Shape Phosphoproteome Dynamics during Mitotic Exit

Phosphoproteome dynamics during mitotic exit in budding yeast

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Altimetry for the future: Building on 25 years of progress

Assessing Budding Yeast Phosphoproteome Dynamics in a Time-Resolved Manner using TMT10plex Mass Tag Labeling

PP2ACdc55 Phosphatase Imposes Ordered Cell-Cycle Phosphorylation by Opposing Threonine Phosphorylation

PP2A Cdc55 Phosphatase Imposes Ordered Cell-Cycle Phosphorylation by Opposing Threonine Phosphorylation

Plasma neurofilament light chain is associated with cognitive decline in non-dementia older adults

Associations Between Physical Activity, Blood-Based Biomarkers of Neurodegeneration, and Cognition in Healthy Older Adults: The MAPT Study

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