[HTML][HTML] Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
…, D Kotlarz, K Boztug, EM Gertz… - … England Journal of …, 2009 - Mass Medical Soc
Background The molecular cause of inflammatory bowel disease is largely unknown. Methods
We performed genetic-linkage analysis and candidate-gene sequencing on samples from …
We performed genetic-linkage analysis and candidate-gene sequencing on samples from …
Protein database searches using compositionally adjusted substitution matrices
SF Altschul, JC Wootton, EM Gertz… - The FEBS …, 2005 - Wiley Online Library
Almost all protein database search methods use amino acid substitution matrices for scoring,
optimizing, and assessing the statistical significance of sequence alignments. Much care …
optimizing, and assessing the statistical significance of sequence alignments. Much care …
[PDF][PDF] Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
…, H Stauss, V Lougaris, A Plebani, EM Gertz… - The American Journal of …, 2012 - cell.com
Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently
not well understood. Most affected individuals are simplex cases, but both autosomal-…
not well understood. Most affected individuals are simplex cases, but both autosomal-…
[HTML][HTML] Composition-based statistics and translated nucleotide searches: improving the TBLASTN module of BLAST
Background TBLASTN is a mode of operation for BLAST that aligns protein sequences to a
nucleotide database translated in all six frames. We present the first description of the …
nucleotide database translated in all six frames. We present the first description of the …
A fast and symmetric DUST implementation to mask low-complexity DNA sequences
A Morgulis, EM Gertz, AA Schäffer… - Journal of computational …, 2006 - liebertpub.com
The DUST module has been used within BLAST for many years to mask low-complexity
sequences. In this paper, we present a new implementation of the DUST module that uses the …
sequences. In this paper, we present a new implementation of the DUST module that uses the …
Object-oriented software for quadratic programming
EM Gertz, SJ Wright - ACM Transactions on Mathematical Software …, 2003 - dl.acm.org
The object-oriented software package OOQP for solving convex quadratic programming
problems (QP) is described. The primal-dual interior point algorithms supplied by OOQP are …
problems (QP) is described. The primal-dual interior point algorithms supplied by OOQP are …
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
C Woellner, EM Gertz, AA Schäffer, M Lagos… - Journal of Allergy and …, 2010 - Elsevier
BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized
by infections of the lung and skin, elevated serum IgE, and involvement of the soft and …
by infections of the lung and skin, elevated serum IgE, and involvement of the soft and …
The phenotype of human STK4 deficiency
…, R Beier, AA Schäffer, EM Gertz… - Blood, The Journal …, 2012 - ashpublications.org
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent
neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their …
neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their …
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency …
…, I Schulze, P Schneider, EM Gertz… - Blood, The Journal …, 2009 - ashpublications.org
TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin
ligand interactor (TACI), a B cell– specific tumor necrosis factor (TNF) receptor superfamily …
ligand interactor (TACI), a B cell– specific tumor necrosis factor (TNF) receptor superfamily …
WindowMasker: window-based masker for sequenced genomes
A Morgulis, EM Gertz, AA Schäffer, R Agarwala - Bioinformatics, 2006 - academic.oup.com
Motivation: Matches to repetitive sequences are usually undesirable in the output of DNA
database searches. Repetitive sequences need not be matched to a query, if they can be …
database searches. Repetitive sequences need not be matched to a query, if they can be …