Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun, +10

Genome Medicine

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Rong Chen, Lisong Shi, Jörg Hakenberg, +27

Nature Biotechnology

Mendelian Childhood DiseasesMendelian DisorderGeneticsGenomes Identifies IndividualsGenetic Epidemiology +9

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

Dong Li, Michael March, Álvaro Gutiérrez-Uzquiza, +24

Nature Medicine

Lymphoid NeoplasiaAutoimmune DiseaseImmunodeficienciesPathogenesisAutophagy +11

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

John A. Martignetti, Lifeng Tian, Dong Li, +24

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderPathologyMolecular DiagnosticsInborn Error Of Immunity

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González, +21

The American Journal of Human Genetics

NeurophysiologyExperimental NeuropathologyNeuropharmacologyNeurologyNeuroscience +4

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Yiran Guo, Melissa Kartawinata, Jiankang Li, +13

Blood

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

Dong Li, Tara Wenger, Christoph Seiler, +21

Human Molecular Genetics

Ephb4 MutationGeneticsMtorc1 ActivityImmunologyGenomic Mechanism +19

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder

Michael D. Keller, Rahul Pandey, Dong Li, +13

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyGenetic DisorderGeneticsPathogenesisImmunodeficiencies +8

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Gholson J. Lyon, Tao Jiang, Richard van Wijk, +20

PubMed

Exome SequencingGeneticsGenetic EpidemiologyGynecologyPathology +19

Genomic profiling informs diagnoses and treatment in vascular anomalies

Dong Li, Sarah E. Sheppard, Michael March, +39

Nature Medicine

Vascular DiseaseVascular AnomaliesGeneticsMedicineVascular Malformation +4