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Mingyan Fang

Karolinska Institutet

37

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953

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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole genome sequencing

2021
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

2021 Neurology Genetics
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More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.

2021 Applied Immunohistochemistry & Molecular Morphology
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DMD/BMD - GENETICS

2021 Neuromuscular Disorders
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Janus kinase inhibition in complement component 1 deficiency

2020 The Journal of Allergy and Clinical Immunology
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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

2020 Investigative Ophthalmology & Visual Science
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Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation.

2020
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NAXD Deficiency Associated with Perinatal Autoinflammation, Pancytopenia, Dermatitis, Colitis, and Cystic Encephalomalacia

2020 Journal of pediatric neurology
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Author response for "Clinical Implications of Experimental Analyses of AID Function on Predictive Computational Tools: Challenge of Missense Variants"

2020
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NGS based studies on primary immunodeficiencies (PIDs) : causative gene identification, tool development and application

2019
- Mingyan Fang
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