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Birgit Krabichler
Researcher at Innsbruck Medical University
Publications - 22
Citations - 1456
Birgit Krabichler is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Missense mutation & Compound heterozygosity. The author has an hindex of 13, co-authored 22 publications receiving 1298 citations.
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Journal ArticleDOI
A survey of tools for variant analysis of next-generation genome sequencing data
Stephan Pabinger,Andreas Dander,Maria Fischer,Rene Snajder,Michael Sperk,Mirjana Efremova,Birgit Krabichler,Michael R. Speicher,Johannes Zschocke,Zlatko Trajanoski +9 more
TL;DR: A comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers.
Journal ArticleDOI
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Matthias Baumann,Cecilia Giunta,Birgit Krabichler,Franz Rüschendorf,Nicoletta Zoppi,Marina Colombi,Reginald E. Bittner,Susana Quijano-Roy,Francesco Muntoni,Sebahattin Cirak,Gudrun Schreiber,Yaqun Zou,Ying Hu,Norma B. Romero,Robert Carlier,Albert Amberger,Andrea J. Deutschmann,Volker Straub,Marianne Rohrbach,Beat Steinmann,Kevin Rostasy,Daniela Karall,Carsten G. Bönnemann,Johannes Zschocke,Christine Fauth +24 more
TL;DR: FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment.
Journal ArticleDOI
Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome
Munis Dundar,Thomas Müller,Qi Zhang,Jing Pan,Beat Steinmann,Julia Vodopiutz,Robert Gruber,Tohru Sonoda,Birgit Krabichler,Gerd Utermann,Jacques U. Baenziger,Lijuan Zhang,Andreas R. Janecke +12 more
TL;DR: The results indicate that adducted thumb-clubfoot syndrome is a disorder resulting from a defect specific to dermatan sulfate biosynthesis and emphasize roles for dermatan sulphate in human development and extracellular-matrix maintenance.
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert,Wayne A. Cabral,Surasawadee Ausavarat,Surasawadee Ausavarat,Surasawadee Ausavarat,Siraprapa Tongkobpetch,Siraprapa Tongkobpetch,Katja Ludin,Aileen M. Barnes,Patra Yeetong,Patra Yeetong,MaryAnn Weis,Birgit Krabichler,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Elena Makareeva,Andreas R. Janecke,Sergey Leikin,Benno Röthlisberger,Marianne Rohrbach,Ingo Kennerknecht,David R. Eyre,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Cecilia Giunta,Joan C. Marini,Vorasuk Shotelersuk,Vorasuk Shotelersuk +27 more
TL;DR: An X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P) is identified, providing evidence that RIP plays a fundamental role in normal bone development.
Journal ArticleDOI
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
Rocio Acuna-Hidalgo,Denny Schanze,Ariana Kariminejad,Ann Nordgren,Ann Nordgren,Mohamad Hasan Kariminejad,Peter Conner,Giedre Grigelioniene,Giedre Grigelioniene,Daniel Nilsson,Daniel Nilsson,Magnus Nordenskjöld,Magnus Nordenskjöld,Anna Wedell,Anna Wedell,Christoph Freyer,Christoph Freyer,Anna Wredenberg,Anna Wredenberg,Dagmar Wieczorek,Gabriele Gillessen-Kaesbach,Hülya Kayserili,Nursel Elcioglu,Siavash Ghaderi-Sohi,Payman Goodarzi,Hamidreza Setayesh,Maartje van de Vorst,Marloes Steehouwer,Rolph Pfundt,Birgit Krabichler,Cynthia J. Curry,Malcolm G. MacKenzie,Kym M. Boycott,Christian Gilissen,Andreas R. Janecke,Alexander Hoischen,Martin Zenker +36 more
TL;DR: These findings expand the understanding of NLS as a disorder of the L-serine biosynthesis pathway and suggest that NLS represents the severe end of serine-deficiency disorders, demonstrating that certain complex syndromes characterized by early lethality could indeed be the extreme end of the phenotypic spectrum of already known disorders.