A
Alejandro A. Schäffer
Researcher at National Institutes of Health
Publications - 269
Citations - 98821
Alejandro A. Schäffer is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Cancer & Population. The author has an hindex of 74, co-authored 249 publications receiving 92583 citations. Previous affiliations of Alejandro A. Schäffer include Rice University & Bell Labs.
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Journal ArticleDOI
Inherited biallelic CSF3R mutations in severe congenital neutropenia
Alexa Triot,Päivi M Järvinen,Juan I. Aróstegui,Dhaarini Murugan,Naschla Kohistani,Jose Luis Dapena Díaz,Tomas Racek,Jacek Puchałka,E. Michael Gertz,Alejandro A. Schäffer,Daniel Kotlarz,Dietmar Pfeifer,Christina Díaz de Heredia Rubio,Mehmet Akif Ozdemir,Turkan Patiroglu,Musa Karakukcu,José Sanchez de Toledo Codina,Jordi Yagüe,Ivo P. Touw,Ekrem Unal,Christoph Klein +20 more
TL;DR: A novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor is described.
Journal ArticleDOI
Deconstructing common variable immunodeficiency by genetic analysis.
TL;DR: Findings markedly improved the genetic diagnosis of CVID and point towards new strategies for future genetic studies.
Journal ArticleDOI
Radiation hybrid mapping of 304 novel microsatellites in the domestic cat genome.
Marilyn Menotti-Raymond,Victor A. David,Richa Agarwala,Alejandro A. Schäffer,Robert M. Stephens,Stephen J. O'Brien,William J. Murphy +6 more
TL;DR: These 304 novel polymorphic repeat loci in the feline genome provide a useful tool for undertaking full-genome scans to identify genes associated with phenotypes of interest, such as those relating to hereditary disease, coat color, patterning and morphology.
Journal ArticleDOI
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Shigui Zhu,Amy P. Hsu,Marla M. Vacek,Lixin Zheng,Alejandro A. Schäffer,Janet K. Dale,Joie Davis,Roxanne Fischer,Sharon E. Straus,Donna Boruchov,Frank T. Saulsbury,Michael J. Lenardo,Jennifer M. Puck +12 more
TL;DR: A association analysis suggested protection from severe disease by caspase-10 V410I in 63 families with ALPS Ia due to dominant Fas mutations (P<0.05), challenging the earlier suggestion that homozygosity for V 410I alone causes ALPS.
Journal ArticleDOI
The Hyper IgE Syndrome and Mutations in TYK2
Cristina Woellner,Alejandro A. Schäffer,Jennifer M. Puck,E.D. Renner,Constanze Knebel,Steve M. Holland,Alessandro Plebani,Bodo Grimbacher +7 more
TL;DR: It is concluded that Tyk2 deficiency is most likely not a common cause of the AR-HIES and it is suggested that human Tyk 2 deficiency is a distinct disease entity that is genetically and Clinically different from the previously published patients with AR- HIES.