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
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
A. Sassi,Sandra Lazaroski,Gang Wu,Stuart M. Haslam,Manfred Fliegauf,Fethi Mellouli,Turkan Patiroglu,Ekrem Unal,Mehmet Akif Ozdemir,Zineb Jouhadi,Khadija Khadir,Leila Ben-Khemis,Meriem Ben-Ali,Imen Ben-Mustapha,Lamia Borchani,Dietmar Pfeifer,Thilo Jakob,Monia Khemiri,A. Charlotta Asplund,Manuela O. Gustafsson,Karin E. Lundin,Elin Falk-Sörqvist,Lotte Moens,Hatice Eke Gungor,Karin R. Engelhardt,Magdalena Dziadzio,Hans J. Stauss,Bernhard Fleckenstein,Rebecca Meier,Khairunnadiya Prayitno,Andrea Maul-Pavicic,Sandra Schaffer,Mirzokhid Rakhmanov,Philipp Henneke,Helene Kraus,Hermann Eibel,Uwe Kölsch,Sellama Nadifi,Mats Nilsson,Mohamed Bejaoui,Alejandro A. Schäffer,C. I. Edvard Smith,Anne Dell,Mohamed-Ridha Barbouche,Bodo Grimbacher,Bodo Grimbacher +45 more
TL;DR: In this paper, a linkage analysis of candidate genes in an 11.9-Mb linkage region on chromosome 6 shared by two multiplex families identified two homozygous mutations in PGM3 that segregated with disease status and followed recessive inheritance.
Journal ArticleDOI
Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.
Roby Joehanes,Roby Joehanes,Roby Joehanes,Xiaoling Zhang,Xiaoling Zhang,Tianxiao Huan,Chen Yao,Saixia Ying,Quang Tri Nguyen,Cumhur Y Demirkale,Michael Feolo,Nataliya Sharopova,Anne Sturcke,Alejandro A. Schäffer,Nancy L. Heard-Costa,Han Chen,Han Chen,Poching Liu,Richard J. Wang,Kimberly Woodhouse,Kahraman Tanriverdi,Jane E. Freedman,Nalini Raghavachari,Josée Dupuis,Josée Dupuis,Andrew D. Johnson,Christopher J. O'Donnell,Daniel Levy,Peter J. Munson,Peter J. Munson +29 more
TL;DR: An eQTL investigation of microarray-based gene and exon expression levels in whole blood in a cohort of 5257 individuals is conducted, exceeding the single cohort size of previous studies by more than a factor of 2.5.
Journal ArticleDOI
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Karin R. Engelhardt,Karin R. Engelhardt,Karin R. Engelhardt,Michael E. Gertz,Sevgi Keles,Sevgi Keles,Alejandro A. Schäffer,Elena C. Sigmund,Cristina Glocker,Shiva Saghafi,Zahra Pourpak,Ruben Ceja,Ruben Ceja,A. Sassi,Laura E. Graham,Michel J. Massaad,Fethi Mellouli,Imen Ben-Mustapha,Monia Khemiri,Sara Sebnem Kilic,Amos Etzioni,Alexandra F. Freeman,Jens Thiel,Ilka Schulze,Waleed Al-Herz,Ayse Metin,Ozden Sanal,Ilhan Tezcan,Mehdi Yeganeh,Tim Niehues,G Dueckers,S Weinspach,Turkan Patiroglu,Ekrem Unal,Majed Dasouki,Mustafa Yilmaz,Ferah Genel,Caner Aytekin,Necil Kutukculer,Ayper Somer,Mehmet Kilic,Ismail Reisli,Yildiz Camcioglu,Andrew R. Gennery,Andrew J. Cant,Alison Jones,B Gaspar,Peter D. Arkwright,Maria Cristina Pietrogrande,Zeina Baz,Salem Al-Tamemi,Vassilios Lougaris,Gérard Lefranc,André Mégarbané,Jeannette Boutros,Nermeen Galal,Mohamed Bejaoui,M. R. Barbouche,Raif S. Geha,Talal A. Chatila,Talal A. Chatila,Bodo Grimbacher,Bodo Grimbacher +62 more
TL;DR: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.
Journal ArticleDOI
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
TL;DR: It is proposed a unifying hypothesis that BDCPs act as scaffolding proteins that facilitate membrane events, including both fission and fusion, determined by their binding partners.
Journal ArticleDOI
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Marjorie J. Rosenberg,Richa Agarwala,Gerard G. Bouffard,Joie Davis,Giuseppe Fiermonte,Mark S. Hilliard,Thorsten Koch,Linda M. Kalikin,Izabela Makalowska,D. Holmes Morton,Elizabeth M. Petty,James L. Weber,Ferdinando Palmieri,Richard I. Kelley,Richard I. Kelley,Alejandro A. Schäffer,Leslie G. Biesecker +16 more
TL;DR: It is shown, by using a genealogy database and automated pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral couple and data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth.