Wissenschaftliche Publikationen

STAT6 as an asthma candidate gene: polymorphism-screening, association and haplotype analysis in a Caucasian sib-pair study

G. Duetsch
T. Illig
S. Loesgen
K. Rohde
N. Klopp
N. Herbon
H. Gohlke
J. Altmueller
M. Wjst

04. August 2016 / Am J Hum Genet

Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis

R. Adam
I. Spier
B. Zhao
M. Kloth
J. Marquez
I. Hinrichsen
J. Kirfel
A. Tafazzoli
S. Horpaopan
S. Uhlhaas
D. Stienen
N. Friedrichs
J. Altmüller
A. Laner
S. Holzapfel
S. Peters
K. Kayser
H. Thiele
E. Holinski-Feder
G. Marra
G. Kristiansen
M.M. Nöthen
R. Büttner
G. Möslein
R.C. Betz
A. Brieger
R.P. Lifton
S. Aretz

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

J. Altmüller
S. Motameny
C. Becker
H. Thiele
S. Chatterjee
B. Wollnik
P. Nürnberg

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

S. Ammann
A. Schulz
I. Krägeloh-Mann
N.M.G. Dieckmann
K. Niethammer
S. Fuchs
K.M. Eckl
R. Plank
R. Werner
J. Altmüller
H. Thiele
P. Nürnberg
J. Bank
A. Strauss
H. von Bernuth
U. Zur Stadt
S. Grieve
G.M. Griffiths
K. Lehmberg
H.C. Hennies
S. Ehl

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS

M.P. Bartram
S. Habbig
C. Pahmeyer
M. Höhne
L.T. Weber
H. Thiele
J. Altmüller
N. Kottoor
A. Wenzel
M. Krueger
B. Schermer
T. Benzing
M.M. Rinschen
B.B. Beck

Update on the ACTG1-associated Baraitser–Winter cerebrofrontofacial syndrome

N. Di Donato
A. Kuechler
S. Vergano
W. Heinritz
J. Bodurtha
S.R. Merchant
G. Breningstall
R. Ladda
S. Sell
J. Altmüller
N. Bögershausen
A.E. Timms
K. Hackmann
E. Schrock
S. Collins
C. Olds
A. Rump
W.B. Dobyns

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

N. Di Donato
T. Neuhann
A.K. Kahlert
B. Klink
K. Hackmann
I. Neuhann
B. Novotna
J. Schallner
C. Krause
I.A. Glass
S.E. Parnell
A. Benet-Pages
A.M. Nissen
W. Berger
J. Altmüller
H. Thiele
B.H.F. Weber
E. Schrock
W.B. Dobyns
A. Bier
A. Rump

Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18

C. Flegel
F. Vogel
A. Hofreuter
S. Wojcik
C. Schoeder
K. Kieć-Kononowicz
N.H. Brockmeyer
C.E. Müller
C. Becker
J. Altmüller
H. Hatt
G. Gisselmann

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

E. Gardella
F. Becker
R.S. Møller
J. Schubert
J.R. Lemke
L.H.G. Larsen
H. Eiberg
M. Nothnagel
H. Thiele
J. Altmüller
S. Syrbe
A. Merkenschlager
T. Bast
B. Steinhoff
P. Nürnberg
Y. Mang
L. Bakke Møller
P. Gellert
S.E. Heron
L.M. Dibbens
S. Weckhuysen
H.A. Dahl
S. Biskup
N. Tommerup
H. Hjalgrim
H. Lerche
S. Beniczky
Y.G. Weber

Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus

B. Harr
E. Karakoc
R. Neme
M. Teschke
C. Pfeifle
Ž. Pezer
H. Babiker
M. Linnenbrink
I. Montero
R. Scavetta
M.R. Abai
M.P. Molins
M. Schlegel
R.G. Ulrich
J. Altmüller
M. Franitza
A. Büntge
S. Künzel
D. Tautz