Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
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Published in Nature medicine (01.12.2014)
Published in Nature medicine (01.12.2014)
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Database indexing for production MegaBLAST searches
Morgulis, Aleksandr, Coulouris, George, Raytselis, Yan, Madden, Thomas L., Agarwala, Richa, Schäffer, Alejandro A.
Published in Bioinformatics (15.08.2008)
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Domain enhanced lookup time accelerated BLAST
Boratyn, Grzegorz M, Schäffer, Alejandro A, Agarwala, Richa, Altschul, Stephen F, Lipman, David J, Madden, Thomas L
Published in Biology direct (17.04.2012)
Published in Biology direct (17.04.2012)
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Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
Lanternier, Fanny, MD, PhD, Mahdaviani, Seyed Alireza, MD, Barbati, Elisa, PhD, Chaussade, Hélène, MD, Koumar, Yatrika, MD, Levy, Romain, MD, MSc, Denis, Blandine, MD, Brunel, Anne-Sophie, MD, Martin, Sophie, MD, Loop, Michèle, MD, Peeters, Julie, MD, de Selys, Ariel, MD, Vanclaire, Jean, MD, Vermylen, Christiane, MD, PhD, Nassogne, Marie-Cécile, MD, PhD, Chatzis, Olga, MD, PhD, Liu, Luyan, PhD, Migaud, Mélanie, MSc, Pedergnana, Vincent, PhD, Desoubeaux, Guillaume, MD, PhD, Jouvion, Gregory, PhD, Chretien, Fabrice, MD, PhD, Darazam, Ilad Alavi, MD, Schäffer, Alejandro A., PhD, Netea, Mihai G., MD, PhD, De Bruycker, Jean J., MD, Bernard, Louis, MD, PhD, Reynes, Jacques, MD, PhD, Amazrine, Noureddine, MD, Abel, Laurent, MD, PhD, Van der Linden, Dimitri, MD, PhD, Harrison, Tom, MD, PhD, Picard, Capucine, MD, PhD, Lortholary, Olivier, MD, PhD, Mansouri, Davood, MD, MPH, Casanova, Jean-Laurent, MD, PhD, Puel, Anne, PhD
Published in Journal of allergy and clinical immunology (01.06.2015)
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Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Kotlarz, Daniel, Ziętara, Natalia, Uzel, Gulbu, Weidemann, Thomas, Braun, Christian J, Diestelhorst, Jana, Krawitz, Peter M, Robinson, Peter N, Hecht, Jochen, Puchałka, Jacek, Gertz, E Michael, Schäffer, Alejandro A, Lawrence, Monica G, Kardava, Lela, Pfeifer, Dietmar, Baumann, Ulrich, Pfister, Eva-Doreen, Hanson, Eric P, Schambach, Axel, Jacobs, Roland, Kreipe, Hans, Moir, Susan, Milner, Joshua D, Schwille, Petra, Mundlos, Stefan, Klein, Christoph
Published in The Journal of experimental medicine (11.03.2013)
Published in The Journal of experimental medicine (11.03.2013)
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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A, Fliegauf, Manfred, Sayar, Esra H, Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S Ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo
Published in Human molecular genetics (20.12.2015)
Published in Human molecular genetics (20.12.2015)
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Phylogenetic analysis of multiprobe fluorescence in situ hybridization data from tumor cell populations
Chowdhury, Salim Akhter, Shackney, Stanley E, Heselmeyer-Haddad, Kerstin, Ried, Thomas, Schäffer, Alejandro A, Schwartz, Russell
Published in Bioinformatics (01.07.2013)
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Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation
Du, Xiangjun, Gertz, E Michael, Wojtowicz, Damian, Zhabinskaya, Dina, Levens, David, Benham, Craig J, Schäffer, Alejandro A, Przytycka, Teresa M
Published in Nucleic acids research (10.11.2014)
Published in Nucleic acids research (10.11.2014)
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Initial sequence and comparative analysis of the cat genome
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Published in Genome Research (01.11.2007)
Published in Genome Research (01.11.2007)
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Improved BLAST searches using longer words for protein seeding
Shiryev, Sergey A., Papadopoulos, Jason S., Schäffer, Alejandro A., Agarwala, Richa
Published in Bioinformatics (01.11.2007)
Published in Bioinformatics (01.11.2007)
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PSEUDOMARKER 2.0: efficient computation of likelihoods using NOMAD
Gertz, Edward Michael, Hiekkalinna, Tero, Digabel, Sébastien Le, Audet, Charles, Terwilliger, Joseph D, Schäffer, Alejandro A
Published in BMC bioinformatics (17.02.2014)
Published in BMC bioinformatics (17.02.2014)
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Phylogenetic analysis of multiple FISH markers in oral tongue squamous cell carcinoma suggests that a diverse distribution of copy number changes is associated with poor prognosis
Wangsa, Darawalee, Chowdhury, Salim Akhter, Ryott, Michael, Gertz, E. Michael, Elmberger, Göran, Auer, Gert, Åvall Lundqvist, Elisabeth, Küffer, Stefan, Ströbel, Philipp, Schäffer, Alejandro A., Schwartz, Russell, Munck‐Wikland, Eva, Ried, Thomas, Heselmeyer‐Haddad, Kerstin
Published in International journal of cancer (01.01.2016)
Published in International journal of cancer (01.01.2016)
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PSEUDOMARKER: A Powerful Program for Joint Linkage and/or Linkage Disequilibrium Analysis on Mixtures of Singletons and Related Individuals
Hiekkalinna, Tero, Schäffer, Alejandro A., Lambert, Brian, Norrgrann, Petri, Göring, Harald H.H., Terwilliger, Joseph D.
Published in Human heredity (01.01.2011)
Published in Human heredity (01.01.2011)
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Accuracy and coverage assessment of Oryctolagus cuniculus (rabbit) genes encoding immunoglobulins in the whole genome sequence assembly (OryCun2.0) and localization of the IGH locus to chromosome 20
Gertz, E. Michael, Schäffer, Alejandro A., Agarwala, Richa, Bonnet-Garnier, Amélie, Rogel-Gaillard, Claire, Hayes, Hélène, Mage, Rose G.
Published in Immunogenetics (New York) (01.10.2013)
Published in Immunogenetics (New York) (01.10.2013)
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Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
Kehler, James S, David, Victor A, Schäffer, Alejandro A, Bajema, Kristina, Eizirik, Eduardo, Ryugo, David K, Hannah, Steven S, O'Brien, Stephen J, Menotti-Raymond, Marilyn
Published in The Journal of heredity (01.09.2007)
Published in The Journal of heredity (01.09.2007)
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Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration
Menotti-Raymond, Marilyn, David, Victor A., Schäffer, Alejandro A., Stephens, Robert, Wells, David, Kumar-Singh, Rajendra, O'Brien, Stephen J., Narfström, Kristina
Published in The Journal of heredity (01.05.2007)
Published in The Journal of heredity (01.05.2007)
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HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI
Boztug, Kaan, Ding, Xiao‐Qi, Hartmann, Hans, Ziesenitz, Lena, Schäffer, Alejandro A., Diestelhorst, Jana, Pfeifer, Dietmar, Appaswamy, Giridharan, Kehbel, Sonja, Simon, Thorsten, Al Jefri, Abdullah, Lanfermann, Heinrich, Klein, Christoph
Published in American journal of medical genetics. Part A (01.12.2010)
Published in American journal of medical genetics. Part A (01.12.2010)
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