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April 01, 2019 / J Med Genet

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S. Pauli
J. Altmüller
S. Schröder
A. Ohlenbusch
S. Dreha-Kulaczewski
C. Bergmann
P. Nürnberg
H. Thiele
Y. Li
B. Wollnik
K. Brockmann

March 01, 2019 / Mol Ecol

Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish

S. Dennenmoser
F.J. Sedlazeck
M.C Schatz
J. Altmüller
M. Zytnicki
A.W. Nolte

February 28, 2019 / Blood

The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

R. Wagener
J. Seufert
F. Raimondi
S. Bens
K. Kleinheinz
I. Nagel
J. Altmüller
H. Thiele
D. Hübschmann
C.W. Kohler
P. Nürnberg
R. Au-Yeung
B. Burkhardt
H. Horn
L. Leoncini
E.S. Jaffe
G. Ott
G. Rymkiewicz
M. Schlesner
R.B. Russell
W. Klapper
R. Siebert

March 01, 2019 / J Mol Diagn

Combined targeted resequencing of cytosine DNA methylation and mutations of DNA repair genes with potential use for poly(ADP-ribose) polymerase 1 inhibitor sensitivity testing

C. Grimm
A. Fischer
A.M. Farrelly
R. Kalachand
R. Castiglione
E. Wasserburger
M. Hussong
Anne M Schultheis
J. Altmüller
H. Thiele
H.C. Reinhardt
K. Hauschulz
B.T. Hennessy
R. Herwig
M. Lienhard
R. Buettner
M.R. Schweiger

March 01, 2019 / Mol Genet Genomic Med

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

D. Lima Cunha
O.M. Alakloby
R. Gruber
N. Kakar
J. Ahmad
S. Alawbathani
R. Plank
K. Eckl
B. Krabichler
J. Altmüller
P. Nürnberg
J. Zschocke
G. Borck
M. Schmuth
A.S. Alabdulkareem
K. Abdulaziz Alnutaifi
H.C. Hennies

August 01, 2019 / Genet Med

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

June 01, 2019 / J Pathol

Multiregion human bladder cancer sequencing reveals tumour evolution, bladder cancer phenotypes and implications for targeted therapy

T. Heide
A. Maurer
M. Eipel
K. Knoll
M. Geelvink
J. Veeck
R. Knuechel
J. van Essen
R. Stoehr
A. Hartmann
J. Altmueller
T.A. Graham
N.T. Gaisa

March 12, 2019 / Nat Commun

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

June 01, 2019 / Birth Defects Res

HSPA6: s new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum

F. Kause
R. Zhang
M. Ludwig
E. Schmiedeke
A. Rissmann
H. Thiele
J. Altmueller
S. Herms
A.C. Hilger
F. Hildebrandt
H. Reutter

April 04, 2019 / Am J Hum Genet

The discovery of a LEMD2-associated nuclear envelopathy with early progeroid appearance suggests advanced applications for AI-driven facial phenotyping

F. Marbach
C.F. Rustad
A. Riess
D. Đukić
T.C. Hsieh
I. Jobani
T. Prescott
A. Bevot
F. Erger
G. Houge
M. Redfors
J. Altmueller
T. Stokowy
C. Gilissen
C. Kubisch
E. Scarano
L. Mazzanti
T. Fiskerstrand
P.M. Krawitz
D. Lessel
C. Netzer