Scientific Publications

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome

I.I. Gönenc
N.H. Elcioglu
C. Martinez Grijalva
S. Aras
N. Großmann
I. Praulich
J. Altmüller
S. Kaulfuß
Y. Li
P. Nürnberg
P. Burfeind
G. Yigit
B. Wollnik

Noncanonical function of AGO2 augments T-cell receptor signaling in T-cell prolymphocytic leukemia

T. Braun
J. Stachelscheid
N. Bley
S. Oberbeck
M. Otte
T.A. Müller
L. Wahnschaffe
M. Glaß
K. Ommer
M. Franitza
B. Gathof
J. Altmüller
M. Hallek
D. Auguin
S. Hüttelmaier
A. Schrader
M. Herling

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

M.S. Reuter
M. Zech
M. Hempel
J. Altmüller
T. Heung
L. Pölsler
R. Santer
H. Thiele
B. Trost
C. Kubisch
S.W. Scherer
S. Rudnik-Schöneborn
A.S. Bassett
D. Lessel

Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay

D. Wallmeroth
J.W. Lackmann
S. Kueckelmann
J. Altmüller
C. Dieterich
V. Boehm
N.H. Gehring

None fits all: unraveling structural rearrangements of the CFH gene cluster in aHUS patients using molecular combing and long fragment targeted sequencing

N. Tschernoster
F. Erger
P.R. Walsh
B. McNicholas
M. Fistrek
S. Habbig
L. Schumacher
K. Folz-Donahue
C. Kukat
M.R. Toliat
C. Becker
H. Thiele
D. Kavanagh
P. Nürnberg
B. Beck
J. Altmüller

Claudin-10a deficiency shifts proximal tubular Cl(-) permeability to cation selectivity via claudin-2 redistribution

T. Breiderhoff
N. Himmerkus
L. Meoli
A. Fromm
S. Sewerin
N. Kriuchkova
O. Nagel
Y. Ladilov
S. Krug
C. Quintanova
M. Stumpp
D. Garbe-Schönberg
U. Westernströer
C. Merkel
M. Brinkhus
J. Altmüller
M. Schweiger
D. Mueller
K. Mutig
M. Morawski
J. Halbritter
S. Milatz
M. Bleich
D. Günzel

A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family

M. Asif
I.D. Mocanu
U. Abdullah
W. Höhne
J. Altmüller
E.U.H. Makhdoom
H. Thiele
S.M. Baig
P. Nürnberg
L. Graul-Neumann
M.S. Hussain

July 14, 2022 in HGG Advances

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

M. Asif
E. Kaygusuz
M. Shinawi
A. Nickelsen
T.C. Hsieh
P. Wagle
B. Budde
J. Hochscherf
U. Abdullah
S. Höning
C. Nienberg
D. Lindenblatt
A.A. Noegel
J. Altmüller
H. Thiele
S. Motameny
N. Fleischer
I. Segal
L. Pais
S. Tinschert
N.G. Samra
J.M. Savatt
N.L. Rudy
C. De Luca
P. Fortugno
S.M. White
P. Krawitz
A.C.E. Hurst
K. Niefind
J. Jose
F. Brancati
P. Nürnberg
M.S. Hussain

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

J. Hauke
P. Harter
C. Ernst
A. Burges
S. Schmidt
A. Reuss
J. Borde
N. De Gregorio
D. Dietrich
A. El-Balat
M. Kayali
H. Gevensleben
F. Hilpert
J. Altmüller
A. Heimbach
W. Meier
B. Schoemig-Markiefka
H. Thiele
R. Kimmig
P. Nürnberg
K. Kast
L. Richters
J. Sehouli
R.K. Schmutzler
E. Hahnen

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

H.L. Marko
N.C. Hornig
R.C. Betz
P.M. Holterhus
J. Altmüller
H. Thiele
M. Fabiano
H.U. Schweikert
D. Braun
U. Schweizer