Publikationen

Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D
Improved exome prioritization of disease genes through cross-species phenotype comparison. .
Genome Res. 2014; 24(2):340-348.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJL., Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Am J Hum Genet. 2014; 94(2):278-287.
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
Brain 2014; 137(3):683-692.
Krawitz PM, Höchsmann B, Murakami Y, Teubner B, Krüger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
Blood 2013; 122(7):1312-1315.
Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, di Pasquale E, Papa L, Portararo P, Columbaro M, Forni A, Faggian G, Condorelli G, Robinson PN
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
Eur J Hum Genet. 2013; 21(10):1105-1111.
Heinrich V, Kamphans T, Stange J, Parkhomchuk D, Dickhaus T, Hecht J, Robinson PN, Krawitz PM
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.
Genome Med. 2013; 5(7):69.
Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
PLoS ONE 2013; 8(8):e70151.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
J Exp Med. 2013; 210(3):433-443.
Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet. 2013; 92(4):565-574.
Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Am J Hum Genet. 2013; 92(4):584-589.

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