Results 91 to 100 of about 128,279 (119)

Genomic Characterization of RTK-RAS Pathway Alterations in Juvenile Myelomonocytic Leukemia Through Whole-Exome Sequencing. [PDF]

Med Sci (Basel)
Goel H, Majhi RK, Meena JP, Chopra A, Bakhshi S, Singh L, Seth R, Kar B, Tanwar P, Gupta AK.   +9 more
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Incremental yield of genome sequencing after exome sequencing for nonimmune hydrops fetalis spectrum. [PDF]

Am J Obstet Gynecol MFM
Boutin RCT, Lianoglou BR, Sahin Hodoglugil NN, Tick K, Santoli CMA, Hodoglugil U, Martin P, Van Ziffle J, Devine P, Risch N, Norton ME, Sparks TN.   +11 more
europepmc   +1 more source

Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center. [PDF]

Front Genet
Cai M, Lin N, Huang H, Fu M, Dai Y, Xu L.   +5 more
europepmc   +1 more source

A combined study of whole-exome sequencing and structural neuroimaging markers in bipolar disorder. [PDF]

Transl Psychiatry
Park SW, Han KM, Oh EY, Kang Y, Kim A, Park J, Shin D, Tae WS, Han MR, Ham BJ.   +9 more
europepmc   +1 more source

Balancing automation and expertise: real-world evaluation of AI-assisted whole-exome sequencing in lupus-causing genes. [PDF]

Lupus Sci Med
Madenidou AV, Rice GI, Garner T, Dyball S, Parker B, Chieng A, Stevens A, Bruce IN, Briggs TA.   +8 more
europepmc   +1 more source

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

Zhu R, Zhang Q, Yuan K, Zhang R, Turvey AK, Stevens CR, Fachal L, Ahmad T, Bel Kok K, Bernstein CN, Bokemeyer B, Brant SR, Brooks J, Butterworth J, Cho JH, Clark K, Cummings F, Duerr RH, Ennis S, Farkkila M, Faubion WA, Foley S, Franchimont D, Franke A, Hancock L, Hart A, Hooper P, Irving P, Jarvis M, Johnston E, Karlson EW, Kemp C, Kennedy N, Kupcinskas J, Lamb CA, Lees C, Lewis JD, Li A, Limdi J, Loescher B, Louis E, McCauley JL, McGovern DP, McLaughlin J, Moayyedi P, Moran G, Newberry RD, Oglesby A, Palotie A, Pekow J, Perez KJ, Pollok R, Prescott N, Raine T, Ramadas A, Ramakrishnan S, Sabic K, Sands B, Satsangi J, Sazonovs A, Schreiber S, Selinger C, Shedwell S, Silverberg MS, Singh S, Sokol H, Steed H, Steel A, Uhlig HH, Verma A, Vermeire S, Weersma RK, Xavier RJ, Yu M, Parkes M, Rioux JD, Daly MJ, Huang H, Anderson CA.   +78 more
europepmc   +1 more source

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Cost-Effectiveness of Exome and Genome Sequencing for Children With Rare and Undiagnosed Conditions

Genetics in Medicine, 2022
Jill L Maron, Tara A Lavelle, Peter J Neumann   +2 more
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