Matthew M. Demczko

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

Jahnavi Aluri, Alicia Bach, Saara Kaviany et al. · Blood · 2020 · 103 citations · Full text

Life Sciences, Genetics, Immunology +16

Flexion-Extension Cervical Spine MRI in Children With Skeletal Dysplasia

William G. Mackenzie, Arjun Dhawale, Matthew M. Demczko et al. · Journal of Pediatric Orthopaedics · 2013 · 48 citations

Medicine, Radiology, Image Interpretation +14

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Katie B. Williams, Karlla W. Brigatti, Erik G. Puffenberger et al. · Human Molecular Genetics · 2018 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17

Effectiveness and Safety of Statin Therapy in Children: A Real-World Clinical Practice Experience

Rae-Ellen W. Kavey, Cedric Manlhiot, Kyle Runeckles et al. · CJC Open · 2020 · 25 citations · Full text

Pharmacy, Child Health, Pediatrics +16