Karl Sperling - Publications, H-index & Citations

Karl Sperling

charité – universitätsmedizin berlin

50H指数

253论文数

9.3K被引数

收录论文 41

发表时间

A homozygous lamin B receptor variant resulting in Pelger–Huët anomaly without skeletal dysplasia 纯合子层粘连蛋白B受体变异导致无骨骼发育不良的Pelger–Huët异常

Nucleus

IF4.5

2026-08-20

OAAI

Katrin Hoffmann; Amparo Vayá; José M. Ricart Vayá; Oliver Küchler; Axel Schmidt; Nicolai von Kügelgen; Björn Fischer-Zirnsak; Karl Sperling

Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-29

104

OAAI

Wim, JM; Vuillaume, M; Chrzanowska, K; Smeets, D; Sperling, K; Hall, J

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

HUMAN GENETICS

IF3.6

2022-05-10

OAAI

Neitzel, Heidemarie; Varon, Raymonda; Chughtai, Sana; Dartsch, Josephine; Dutrannoy-Toensing, Veronique; Nuernberg, Peter; Nuernberg, Gudrun; Schweiger, Michal; Digweed, Martin; Hildebrand, Gabriele; Hackmann, Karl; Holtgrewe, Manuel; Sarioglu, Nanette; Schulze, Bernt; Horn, Denise; Sperling, Karl

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

AGING-US

IF3.9

2020-06-20

OAAI

Habib, Raneem; Kim, Ryong; Neitzel, Heidemarie; Demuth, Ilja; Chrzanowska, Krystyna; Seemanova, Eva; Faber, Renaldo; Digweed, Martin; Voss, Reinhard; Jaeger, Kathrin; Sperling, Karl; Walter, Michael

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

SCIENTIFIC REPORTS

IF3.9

2018-10-02

OAAI

Holtgrewe, Manuel; Knaus, Alexej; Hildebrand, Gabriele; Pantel, Jean-Tori; de los Santos, Miguel Rodriguez; Neveling, Kornelia; Goldmann, Jakob; Schubach, Max; Jager, Marten; Coutelier, Marie; Mundlos, Stefan; Beule, Dieter; Sperling, Karl; Krawitz, Peter Michael

Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants

SCIENTIFIC REPORTS

IF3.9

2017-08-08

OAAI

Mlody, Barbara; Wruck, Wasco; Martins, Soraia; Sperling, Karl; Adjaye, James

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application

MOLECULAR THERAPY

IF12

2016-01-01

OAAI

Salewsky, Bastian; Hildebrand, Gabriele; Rothe, Susanne; Parplys, Ann Christin; Radszewski, Janina; Kieslich, Moritz; Wessendorf, Petra; Krenzlin, Harald; Borgmann, Kerstin; Nussenzweig, Andre; Sperling, Karl; Digweed, Martin

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

CELL CYCLE

IF3.4

2014-10-28

OAAI

Alberto Marchal, Juan; Ghani, Mahdi; Schindler, Detlev; Gavvovidis, Ioannis; Winkler, Tina; Esquitino, Veronique; Sternberg, Nadine; Busche, Andreas; Krawitz, Peter; Hecht, Joachim; Robinson, Peter; Mundlos, Stephan; Graul-Neumann, Luitgard; Sperling, Karl; Trimborn, Marc; Neitzel, Heidemarie

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2012-10-03

OAAI

Arelin, Maria; Schulze, Bernt; Mueller-Myhsok, Bertram; Horn, Denise; Diers, Alexander; Uhlenberg, Birgit; Nuernberg, Peter; Nuernberg, Gudrun; Becker, Christian; Mundlos, Stefan; Lindner, Tom H.; Sperling, Karl; Hoffmann, Katrin

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

HUMAN MOLECULAR GENETICS

IF3.2

2011-04-15

PREAI

Ropers, Fabienne; Derivery, Emmanuel; Hu, Hao; Garshasbi, Masoud; Karbasiyan, Mohsen; Herold, Martin; Nuernberg, Gudrun; Ullmann, Reinhard; Gautreau, Alexis; Sperling, Karl; Varon, Raymonda; Rajab, Anna

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

JOURNAL OF MEDICAL GENETICS

IF3.7

2009-11-30

PREAI

Tierling, Sascha; Souren, Nicole Y.; Gries, Jasmin; LoPorto, Christina; Groth, Marco; Lutsik, Pavlo; Neitzel, Heidemarie; Utz-Billing, Isabelle; Gillessen-Kaesbach, Gabriele; Kentenich, Heribert; Griesinger, Georg; Sperling, Karl; Schwinger, Eberhard; Walter, Joern

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

JOURNAL OF MEDICAL GENETICS

IF3.7

2007-12-21

OAAI

Witsch-Baumgartner, M.; Schwentner, I.; Gruber, M.; Benlian, P.; Bertranpetit, J.; Bieth, E.; Chevy, F.; Clusellas, N.; Estivill, X.; Gasparini, G.; Giros, M.; Kelley, R. I.; Krajewska-Walasek, M.; Menzel, J.; Miettinen, T.; Ogorelkova, M.; Rossi, M.; Scala, I.; Schinzel, A.; Schmidt, K.; Schoenitzer, D.; Seemanova, E.; Sperling, K.; Syrrou, M.; Talmud, P. J.; Wollnik, B.; Krawczak, M.; Labuda, D.; Utermann, G.

Cancer risk of heterozygotes with the NBN founder mutation

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

IF7.2

2007-12-11

OAAI

Seemanov, Eva; Jarolim, Petr; Seeman, Pavel; Varon, Raymonda; Digweed, Martin; Swift, Michael; Sperling, Karl

Polymorphisms in the DNA ligase IV gene might influence the risk of acute lymphoblastic leukemia in children

LEUKEMIA

IF13.4

2007-05-31

OAAI

Andreae, J.; Varon, R.; Sperling, K.; Seeger, K.

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

CARCINOGENESIS

IF2.9

2007-01-01

OAAI

Krueger, Lars; Demuth, Ilja; Neitzel, Heidemarie; Varon, Raymonda; Sperling, Karl; Chrzanowska, Krystyna H.; Seemanova, Eva; Digweed, Martin

Hereditary prosopagnosia: the first case series

CORTEX

IF3.3

2007-01-01

PREAI

Grueter, Martina; Grueter, Thomas; Bell, Vaughan; Horst, Juergen; Laskowski, Wolfgang; Sperling, Karl; Halligan, Peter W.; Ellis, Hadyn D.; Kennerknecht, Ingo

Obituary: Prof. Dr. med. Dr. h. c. Friedrich Vogel (1925-2006)

HUMAN GENETICS

IF3.6

2006-12-06

OAAI

Sperling, Karl

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation

INTERNATIONAL JOURNAL OF CANCER

IF4.7

2006-10-26

PREAI

Steffen, Jan; Maneva, Galina; Poplawska, Lidia; Varon, Raymonda; Mioduszewska, Olga; Sperling, Karl