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Scientific Publications

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/ BMC Pulm Med

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

  • J. Altmüller
  • C. Seidel
  • Y.A. Lee
  • S. Loesgen
  • D. Bulle
  • F. Friedrichs
  • H. Jellouschek
  • J. Kelber
  • A. Keller
  • A. Schuster
  • M. Silbermann
  • W. Wahlen
  • P. Wolff
  • F. Rueschendorf
  • G. Schlenvoigt
  • P. Nuernberg
  • M. Wjst
/ Allergy

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3

  • T. Kurz
  • J. Altmueller
  • K. Strauch
  • F. Rueschendorf
  • A. Heinzmann
  • M.F. Moffatt
  • W.O.C.M. Cookson
  • F. Inacio
  • P. Nuernberg
  • H.H. Stassen
  • K.A. Deichmann
/ Acta Neuropathol

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

  • E. Volmering
  • P. Niehusmann
  • V. Peeva
  • A. Grote
  • G. Zsurka
  • J. Altmüller
  • P. Nürnberg
  • A.J. Becker
  • S. Schoch
  • C.E. Elger
  • W.S. Kunz
/ J Med Genet

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
/ N Engl J Med

Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations

  • K. Laghmani
  • B.B. Beck
  • S.S. Yang
  • E. Seaayfan
  • A. Wenzel
  • B. Reusch
  • H. Vitzthum
  • D. Priem
  • S. Demaretz
  • K. Bergmann
  • L.K. Duin
  • H. Göbel
  • C. Mache
  • H. Thiele
  • M.P. Bartram
  • C. Dombret
  • J. Altmüller
  • P. Nürnberg
  • T. Benzing
  • E. Levtchenko
  • H.W. Seyberth
  • G. Klaus
  • G. Yigit
  • S.H. Lin
  • A. Timmer
  • T.J. de Koning
  • S.A. Scherjon
  • K.P. Schlingmann
  • M.J.M. Bertrand
  • M.M. Rinschen
  • O. de Backer
  • M. Konrad
  • M. Kömhoff
/ Sci Rep

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
/ eLife

Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit

  • J. Hatzold
  • F. Beleggia
  • H. Herzig
  • J. Altmüller
  • P. Nürnberg
  • W. Bloch
  • B. Wollnik
  • M. Hammerschmidt
/ PLoS Pathog

The WOPR protein Ros1 is a master regulator of sporogenesis and late effector gene expression in the maize pathogen Ustilago maydis

  • M. Tollot
  • D. Assmann
  • C. Becker
  • J. Altmüller
  • J.Y. Dutheil
  • C.E. Wegner
  • R. Kahmann
/ Biol Chem

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
/ Am J Med Genet A

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