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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Nature medicine, 2019-04, Vol.25 (4), p.583-590

2019

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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Journal of bone and mineral research, 2018-04, Vol.33 (4), p.753-760

2018

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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Frontiers in genetics, 2023-06, Vol.14, p.1174046

2023

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

The Journal of experimental medicine, 2020-03, Vol.217 (3)

2020

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Frontiers in neurology, 2023, Vol.14, p.1170005-1170005

2023

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Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia

Frontiers in pediatrics, 2023-01, Vol.10, p.1082986

2023

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The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

Scientific reports, 2023-04, Vol.13 (1), p.6904-6904, Article 6904

2023

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Skeletal ciliopathies: a pattern recognition approach

Japanese journal of radiology, 2020-03, Vol.38 (3), p.193-206

2020

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Npj genomic medicine, 2023-11, Vol.8 (1), p.39-39, Article 39

2023

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Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome

Clinical genetics, 2024-01, Vol.105 (1), p.87-91

2024

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Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

Frontiers in endocrinology (Lausanne), 2022-06, Vol.13, p.862908

2022

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Vitamin D Induces the Antimicrobial Protein hCAP18 in Human Skin

Journal of investigative dermatology, 2005-05, Vol.124 (5), p.1080-1082

2005

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A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

HGG advances, 2023-01, Vol.4 (1), p.100148-100148, Article 100148

2023

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Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Journal of bone and mineral research, 2018-07, Vol.33 (7), p.1377-1378

2018

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Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

Clinical genetics, 2024-09

2024

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GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

PloS one, 2013-12, Vol.8 (12), p.e80114-e80114

2013

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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Npj genomic medicine, 2022-02, Vol.7 (1), p.11-11, Article 11

2022

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Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Human mutation, 2018-10, Vol.39 (10), p.1456-1467

2018

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Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort

Brain communications, 2023, Vol.5 (4), p.fcad213-fcad213

2023

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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.198-207

2016

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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.517-527

2021

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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

Orphanet journal of rare diseases, 2016-01, Vol.11 (1), p.1-1, Article 1

2016

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

Skeletal ciliopathies: a pattern recognition approach

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Vitamin D Induces the Antimicrobial Protein hCAP18 in Human Skin

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

Genotype‐Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

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