Matthew M. Demczko, MD

Papers

2020

Aluri J., Bach A., Kitcharoensakkul M., Putnam C.D., Shinawi M., Saucier N., Ritter M., Abraham S.M., Powell J., Jones S.M., Scurlock A.M., Schuettpelz L.G.,  Kaviany S., Paracatu L.C., Walkiewicz M.A., Harmon M.T., Keppel, M.P., Similuk, M.,   Kulm E., Joyce M., de Jesus A.A., Goldbach-Mansky R., Lee Y., Cella M., Dinauer M., Bednarski J.J., Bemrich-Stolz C., Canna S.W., Demczko M.M., De Ravin S.S., Bleesing J.J., Connelly J.A.,  Rao K., Cooper M.A. Mosaic and Germline Gain-of-function Variants in TLR8 Lead to Primary Immunodeficiency with Lymphoproliferation and Bone Marrow Failure. Blood. Accepted Dec. 2020.

Kavey, R.E.W., Manlhiot, C., Runeckles, K., Collins, T., Gidding, S.S., Demczko, M.M., Clauss, S., Harahsheh, A.S., Mietus-Syder, M., Khoury, M., Madsen, N., McCrindle, B.W. Effectiveness and Safety of Statin Therapy in Children: A Real-World Clinical Practice Experience. CJC Open. (2020).

2019

Demczko, M.M. Inherited Disorders of Metabolism. Merck Manuals, Professional and Consumer Editions. 20th ed. 2019.

Williams K.B., Brigatti K.W., Puffenberger E.G., Gonzaga-Jauregui C., Griffin L.B.,  Martinez E.D., Wenger O.K., Mark Yoder M., Kandula V.,  Fox M.D., Demczko M.M., Poskitt L., Furuya K.N., Reid J.G., Overton J.D., Baras A., Miles L., Radhakrishnan K., Carson V.J., Antonellis A., Jinks R.N., Strauss K.A. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Human Molecular Genetics. 28(4):525-38. 2019.

2013

Mackenzie W.G., Dhawale A.A., Demczko M.M., Ditro C., Rogers K.J., Bober M.B., Campbell J.W., Grissom L.E. Flexion-Extension Cervical Spine MRI in Children with Skeletal Dysplasia: Is It Safe and Effective? J Pediatr Orthop. 33(1): 91-8. 2013.

2009

Kelly E., Demczko M.M., Moore C.S. The Effect of Gene Dosage Imbalance and NFATc1 Localization on Endocardial Cushion Development in the Ts65Dn Mouse Model for Down Syndrome. Develop Biol. 331(2):489. 2009.

Posters and Presentations

2020

Demczko, M.M., Livingston, F. COVID-19 in Children with Asthma, Medical Complexity. Presented at Nemours Monthly Lecture Series, August 19, 2020 (Virtual).

Demczko M.M. Bringing Precision Medicine to Lower Delaware: Use of a Novel Next Generation Sequencing Panel in an Isolated Amish Founder Population. Presented at the 7th Annual DE-CTR ACCEL Annual Advisory Meeting, February 24, 2020, Charleston, SC.

2019

Khair A., Kaur G.,Ganganna S., Jain B., Salvucci A., Pazzuto T., Obeid R., Polavarapu A., Elia J., Cellucci M., Demczko M.M., Falchek S. Refractory Pediatric Catatonia in Children with Anti NMDAR Autoimmune Encephalitis. Presented at the 13th Annual Pediatric Neurology Society Congress, September 17, 2019, Athens, Greece.

Demczko M.M. Preemptive Genomics: Characterizing and Mitigating Genetic Risk Through Next Generation Sequencing in the Dover Plain Community. Presented at the ACCEL Innovative Discoveries Series, May 17, 2019, Newark, DE.

Demczko M.M. Bringing Precision Medicine to Lower Delaware: A Modern Medical Home for the Amish Children of Dover. Presented at the Annual Wilmington New Castle Pediatric Association Spring Dinner Meeting, May 1, 2019, New Castle, DE.

Demczko M.M., Bowser L., Lee S., Crowgey E. Characterizing Genetic Risk Through Next Generation Sequencing in the Dover Amish Community. Presented at the 6th Annual DE-CTR ACCEL Meeting, March 18, 2019, Newark, DE.

Crowgey E., Demczko M.M. Translational Medicine and the Use of Next Generation Sequencing Panels. Presented at the Nemours Research in Progress Series, February 14, 2019, Wilmington, DE.

Demczko M.M., Brescia, A.M., Leffler, M. Takayasu Artertis: The Varied Presentations of the Large Vessel Vasculitis. Presented at Nemours/A.I. duPont Hospital for Children Pediatric Grand Rounds, January 16, 2019, Wilmington, DE.