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Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3263

2020

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Treatment Strategies for Deficiency of Adenosine Deaminase 2

The New England journal of medicine, 2019-04, Vol.380 (16), p.1582-1584

2019

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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment

Journal of clinical immunology, 2024-04, Vol.44 (4), p.88, Article 88

2024

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A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Nature (London), 2020-01, Vol.577 (7788), p.109-114

2020

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The Miraprep: A Protocol that Uses a Miniprep Kit and Provides Maxiprep Yields

PloS one, 2016-08, Vol.11 (8), p.e0160509-e0160509

2016

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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (36), p.10127-10132

2016

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Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment

World journal of pediatrics : WJP, 2020-12, Vol.16 (6), p.575-584

2020

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TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)

Journal of allergy and clinical immunology, 2022-05, Vol.149 (5), p.1812-1816.e6

2022

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Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings

Journal of clinical immunology, 2021-05, Vol.41 (4), p.837-842

2021

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Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors

Journal of genetic counseling, 2024-08

2024

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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

Journal of clinical immunology, 2020-08, Vol.40 (6), p.917-926

2020

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“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Journal of genetic counseling, 2021-12, Vol.30 (6), p.1707-1718

2021

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Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

Frontiers in immunology, 2018-06, Vol.9, p.1361-1361

2018

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Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease

Arthritis & rheumatology (Hoboken, N.J.), 2017-09, Vol.69 (9), p.1832-1839

2017

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A Cohort Study on Deficiency of ADA2 from China

Journal of clinical immunology, 2023-05, Vol.43 (4), p.835-845

2023

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The Perceived Influence of Neurofibromatosis Type 1(NF1) on the Parents' Relationship

Children (Basel), 2023-02, Vol.10 (3), p.448

2023

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Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation

Transplantation and cellular therapy, 2024-03, Vol.30 (3), p.255-267

2024

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Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

Human genome variation, 2020-08, Vol.7 (1), p.24-24, Article 24

2020

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A framework to identify ethical concerns with ML-guided care workflows: a case study of mortality prediction to guide advance care planning

Journal of the American Medical Informatics Association : JAMIA, 2023-04, Vol.30 (5), p.819-827

2023

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Functional Classification of Germline RUNX1 Variants Identified in Patients Suspected of Familial Platelet Disorder with Associated Myeloid Malignancies

Blood, 2023-11, Vol.142 (Supplement 1), p.4101-4101

2023

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Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

Blood, 2021-11, Vol.138 (Supplement 1), p.1090-1090

2021

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Reconstituting regulation of the canonical Wnt pathway by engineering a minimal β-catenin destruction machine

Molecular biology of the cell, 2017-01, Vol.28 (1), p.41-53

2017

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eP340: Clinical and genetic features of a large cohort of individuals with autoinflammatory disease

Genetics in medicine, 2022-03, Vol.24 (3), p.S212-S213

2022

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Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives

Treatment Strategies for Deficiency of Adenosine Deaminase 2

Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

The Miraprep: A Protocol that Uses a Miniprep Kit and Provides Maxiprep Yields

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2)

Natural history study of patients with familial platelet disorder with associated myeloid malignancy

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings

Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease

A Cohort Study on Deficiency of ADA2 from China

The Perceived Influence of Neurofibromatosis Type 1(NF1) on the Parents' Relationship

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation

Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

A framework to identify ethical concerns with ML-guided care workflows: a case study of mortality prediction to guide advance care planning

Functional Classification of Germline RUNX1 Variants Identified in Patients Suspected of Familial Platelet Disorder with Associated Myeloid Malignancies

Genomic Landscape of RUNX1-Familial Platelet Disorder with Myeloid Malignancies Reveals Rising Clonal Hematopoiesis

Reconstituting regulation of the canonical Wnt pathway by engineering a minimal β-catenin destruction machine

eP340: Clinical and genetic features of a large cohort of individuals with autoinflammatory disease

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