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Martin kussman

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https://www.readbyqxmd.com/read/28185376/matchmaking-facilitates-the-diagnosis-of-an-autosomal-recessive-mitochondrial-disease-caused-by-biallelic-mutation-of-the-trna-isopentenyltransferase-trit1-gene
#1
Kristin D Kernohan, David A Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Genevieve Bernard, Isabella Straub, Martine Tetreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S Rosenblatt, Eric Shoubridge, Aziz Mhanni, Tara Myers, Virginia Proud, Samanta Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole Safina, Carol Saunders, Kym M Boycott, Isabelle Thiffault
Deleterious variants in the same gene present in 2 or more families with overlapping clinical features provides convincing evidence of a disease-gene association; this can be a challenge in the study of ultra-rare diseases. To facilitate the identification of additional families, several groups have created "matching" platforms. We describe four individuals from three unrelated families "matched" by GeneMatcher and MatchMakerExchange. Individuals had microcephaly, developmental delay, epilepsy and recessive mutations in TRIT1...
February 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/24596128/highlights-of-b-d-hpp-and-hpp-resource-pillar-workshops-at-12th-annual-hupo-world-congress-of-proteomics-september-14-18-2013-yokohama-japan
#2
Ruedi Aebersold, Gary D Bader, Aled M Edwards, Jennifer van Eyk, Martin Kussman, Jun Qin, Gilbert S Omenn
At the 12th Annual HUPO World Congress of Proteomics in Japan, the Human Proteome Project (HPP) presented 16 scientific workshop sessions. Here we summarize highlights of ten workshops from the Biology and Disease-driven HPP (B/D-HPP) teams and three from the HPP Resource Pillars. Highlights of the three Chromosome-centric HPP sessions appeared in the many articles of the 2014 C-HPP special issue of the Journal of Proteome Research .
May 2014: Proteomics
https://www.readbyqxmd.com/read/18362236/matrix-array-3-dimensional-echocardiographic-assessment-of-volumes-mass-and-ejection-fraction-in-young-pediatric-patients-with-a-functional-single-ventricle-a-comparison-study-with-cardiac-magnetic-resonance
#3
COMPARATIVE STUDY
Brian D Soriano, Martin Hoch, Alejandro Ithuralde, Tal Geva, Andrew J Powell, Barry D Kussman, Dionne A Graham, Wayne Tworetzky, Gerald R Marx
BACKGROUND: Quantitative assessment of ventricular volumes and mass in pediatric patients with single-ventricle physiology would aid clinical management, but it is difficult to obtain with 2-dimensional echocardiography. The purpose of the present study was to compare matrix-array 3-dimensional echocardiography (3DE) measurements of single-ventricle volumes, mass, and ejection fraction with those measured by cardiac magnetic resonance (CMR) in young patients. METHODS AND RESULTS: Twenty-nine patients (median age, 7 months) with a functional single ventricle undergoing CMR under general anesthesia were prospectively enrolled...
April 8, 2008: Circulation
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