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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Among authors: kaper f. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036
Circulating transcripts in maternal blood reflect a molecular signature of early-onset preeclampsia.
Munchel S, Rohrback S, Randise-Hinchliff C, Kinnings S, Deshmukh S, Alla N, Tan C, Kia A, Greene G, Leety L, Rhoa M, Yeats S, Saul M, Chou J, Bianco K, O'Shea K, Bujold E, Norwitz E, Wapner R, Saade G, Kaper F. Munchel S, et al. Among authors: kaper f. Sci Transl Med. 2020 Jul 1;12(550):eaaz0131. doi: 10.1126/scitranslmed.aaz0131. Sci Transl Med. 2020. PMID: 32611681
Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain.
Lake BB, Ai R, Kaeser GE, Salathia NS, Yung YC, Liu R, Wildberg A, Gao D, Fung HL, Chen S, Vijayaraghavan R, Wong J, Chen A, Sheng X, Kaper F, Shen R, Ronaghi M, Fan JB, Wang W, Chun J, Zhang K. Lake BB, et al. Among authors: kaper f. Science. 2016 Jun 24;352(6293):1586-90. doi: 10.1126/science.aaf1204. Science. 2016. PMID: 27339989 Free PMC article.
Whole-genome haplotyping by dilution, amplification, and sequencing.
Kaper F, Swamy S, Klotzle B, Munchel S, Cottrell J, Bibikova M, Chuang HY, Kruglyak S, Ronaghi M, Eberle MA, Fan JB. Kaper F, et al. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5552-7. doi: 10.1073/pnas.1218696110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509297 Free PMC article.
23 results