Results 161 to 170 of about 13,098 (176)

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom. [PDF]

Genet Med Open
Bashir B, Forrester N, Downie P, Marsh S, Dent C, Wierzbicki AS, Dawson C, Schofield J, Jenkinson F, Mansfield M, Datta D, Delaney H, Teoh Y, Hamilton P, Cegla J, Ferdousi M, Kamath A, Gupta P, Luvai A, O'Sullivan D, Mamood D, Wang J, Durrington PN, Hegele RA, Soran H.   +24 more
europepmc   +1 more source

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Genet Med
Kaplanis J, Deen D, Sivakumar P, de Almeida Gomes M, Puzriakova A, Leong I, Savage K, Aldam G, Skelton J, Quinn P, Parrish A, Baple E, To M, Stone K, Bick D, Pichini A, Tuff-Lacey A, Scott R, Thomas E, Kasperaviciute D.   +19 more
europepmc   +1 more source

Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension. [PDF]

NPJ Genom Med
Karl S, Grünig E, Shaukat M, Held M, Apitz C, von Scheidt F, Geiger R, Halank M, Olsson KM, Hoeper MM, Kamp JC, Kovacs G, Olschewski H, Seyfarth HJ, Milger K, Ewert R, Klose H, Egenlauf B, Xanthouli P, Hinderhofer K, Eichstaedt CA.   +20 more
europepmc   +1 more source

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project. [PDF]

Hum Genet
Ying D, Kwok JSL, Chu ATW, Ma W, Tam HYF, Or D, Hue SPY, Hong Kong Genome Project, Li Q, Leung CKS, Chung BHY.   +10 more
europepmc   +1 more source

Attitudes toward returning pathogenic <i>KCNQ1</i> variant and uptake of cascade screening in the Amish. [PDF]

Genet Med Open
Streeten EA, Guan Y, Ryan KA, Daue M, Pollin TI, Wood KCR, Maloney KA, Shuldiner AR, Mitchell BD, Chowdhury D, Beitelshees AL.   +10 more
europepmc   +1 more source

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort. [PDF]

Kidney Int Rep
Lemberg K, Shalaby MA, Zion E, Saida K, Yousef K, Schneider R, Mertens ND, Mansour B, Kolvenbach CM, Merz LM, Riedhammer KM, Braun A, Hölzel S, Yu S, Lomjansook K, Kalkar G, Marchuk D, Elmubarak I, Franken GAC, Shril S, El Desoky S, Kari JA, Buerger F, Hildebrandt F.   +23 more
europepmc   +1 more source

Efficient variant phasing utilizing a replication cycle reaction system. [PDF]

Genet Med Open
Mitsutake A, Ishiura H, Matsukawa T, Mitsui J, Tsuji S, Toda T.   +5 more
europepmc   +1 more source

Transcriptomic Biomarkers Associated With Microbiological Etiology and Disease Severity in Childhood Pneumonia. [PDF]

J Infect Dis
Williams DJ, Gautam S, Creech CB, Jimenez N, Anderson EJ, Bosinger SE, Grimes T, Arnold SR, McCullers JA, Goll J, Edwards KM, Ramilo O, 16-0036 Study Team .   +12 more
europepmc   +1 more source

Editor's Choice GlycoEnzDB: a database of enzymes involved in human glycosylation. [PDF]

Glycobiology
Zhou Y, Ghosh V, Venkatesan S, Sriram S, Sobczak E, Setlur S, Gunawan R, Neelamegham S.   +7 more
europepmc   +1 more source

The Regulatory Role of Long Non-Coding RNAs in the Development and Progression of Osteoporosis. [PDF]

Int J Mol Sci
Jiménez-Ortega RF, Aparicio-Bautista DI, Becerra-Cervera A, Ortega-Meléndez AI, Patiño N, Rivera-Paredez B, Hidalgo-Bravo A, Velázquez-Cruz R.   +7 more
europepmc   +1 more source