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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

Genetics in medicine, 2015-06, Vol.17 (6), p.444-451

2015

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Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

Human mutation, 2012-01, Vol.33 (1), p.29-41

2012

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Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation

PloS one, 2012-04, Vol.7 (4), p.e35826-e35826

2012

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Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Genetics in medicine, 2011-05, Vol.13 (5), p.457-484

2011

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Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Cancer biology & medicine, 2016-03, Vol.13 (1), p.55-67

2016

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Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism

The Journal of pharmacology and experimental therapeutics, 2015-04, Vol.353 (1), p.132

2015

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Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

The Journal of pediatrics, 2019-06, Vol.209, p.116-124.e4

2019

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Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Cancer biology & medicine, 2016-03, Vol.13 (1), p.55-67

2016

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Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Pediatric research, 2008-11, Vol.64 (5), p.550-555

2008

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Changing paradigm of cancer therapy：precision medicine by next-generation sequencing

Cancer biology & medicine, 2016-03, Vol.13 (1), p.12-18

2016

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Molecular pathology of the fibroblast growth factor family

Human mutation, 2009-09, Vol.30 (9), p.1245-1255

2009

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Changing paradigm of cancer therapy: precision medicine by next-generation sequencing

Cancer biology & medicine, 2016-03, Vol.13 (1), p.12-18

2016

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Mitogen-Activated Protein Kinases Promote WNT/β-Catenin Signaling via Phosphorylation of LRP6

Molecular and Cellular Biology, 2011-01, Vol.31 (1), p.179-189

2011

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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Nature genetics, 2008-08, Vol.40 (8), p.999-1003

2008

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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

American journal of human genetics, 2012-03, Vol.90 (3), p.550-557

2012

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Fibroblast growth factor receptor 3 interacts with and activates TGFβ-activated kinase 1 tyrosine phosphorylation and NFκB signaling in multiple myeloma and bladder cancer

PloS one, 2014, Vol.9 (1), p.e86470-e86470

2014

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Congenital Limb Deficiency Disorders

Clinics in perinatology, 2015-06, Vol.42 (2), p.281-300

2015

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Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis

Journal of cell science, 2005-11, Vol.118 (21), p.5089-5100

2005

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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin

Nature genetics, 2008-12, Vol.40 (12), p.1410-1412

2008

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Fabry disease revisited: Management and treatment recommendations for adult patients

Molecular genetics and metabolism, 2018-04, Vol.123 (4), p.416-427

2018

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Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

International journal of neonatal screening, 2020-03, Vol.6 (1), p.2

2020

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Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100670-100670, Article 100670

2020

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Journal of medical genetics, 2015-05, Vol.52 (5), p.353-358

2015

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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2470-2473

2015

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Journal of medical genetics, 2017-04, Vol.54 (4), p.288

2017

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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

Changing paradigm of cancer therapy：precision medicine by next-generation sequencing

Molecular pathology of the fibroblast growth factor family

Changing paradigm of cancer therapy: precision medicine by next-generation sequencing

Mitogen-Activated Protein Kinases Promote WNT/β-Catenin Signaling via Phosphorylation of LRP6

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Fibroblast growth factor receptor 3 interacts with and activates TGFβ-activated kinase 1 tyrosine phosphorylation and NFκB signaling in multiple myeloma and bladder cancer

Congenital Limb Deficiency Disorders

Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin

Fabry disease revisited: Management and treatment recommendations for adult patients

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

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