Maximilian Muenke

Research.com Recognitions

• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians

Overview

Best Publications

• Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

  Erich Roessler;Elena Belloni;Karin Gaudenz;Philippe Jay

  1327
  Citations

• A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

  M Muenke;U Schell;A Hehr;N H Robin

  846
  Citations

• Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

  E. Belloni;M. Muenke;E. Roessler;G. Traverso

  803
  Citations

• Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

  Stephen A. Brown;Dorothy Warburton;Lucia Y. Brown;Chih-yu Yu

  652
  Citations

• Overexpression of an Osteogenic Morphogen in Fibrodysplasia Ossificans Progressiva

  Adam B. Shafritz;Eileen M. Shore;Francis H. Gannon;Michael A. Zasloff

  496
  Citations

• The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

  Luisa Nanni;Jeffrey E. Ming;Maureen Bocian;Kathryn Steinhaus

  479
  Citations

• Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

  Deeann E. Wallis;Erich Roessler;Erich Roessler;Ute Hehr;Luisa Nanni

  470
  Citations

• Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

  Erich Roessler;Yang-Zhu Du;Jose L. Mullor;Esther Casas

  466
  Citations

• Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

  Karen W. Gripp;David Wotton;Michael C. Edwards;Michael C. Edwards;Erich Roessler

  453
  Citations

• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

  M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  448
  Citations

• Fibroblast-growth-factor receptor mutations in human skeletal disorders

  Maximilian Muenke;Ute Schell

  420
  Citations

• Familial dementia caused by polymerization of mutant neuroserpin

  Richard L. Davis;Antony E. Shrimpton;Peter D. Holohan;Charles Bradshaw

  415
  Citations

• Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

  Nandita A. Quaderi;Susann Schweiger;Karin Gaudenz;Brunella Franco

  409
  Citations

• Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

  Jeffrey E. Ming;Maximilian Muenke

  409
  Citations

• Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

  Richard N. Bamford;Erich Roessler;Rebecca D. Burdine;Umay Şaplakoğlu

  371
  Citations

• Genetics of ventral forebrain development and holoprosencephaly.

  Maximilian Muenke;Maximilian Muenke;Philip A Beachy

  369
  Citations

• Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

  Gary A. Bellus;Karin Gaudenz;Elaine H. Zackai;Lome A. Clarke

  357
  Citations

• A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

  Arcos-Burgos M;Jain M;Acosta Mt;Shively S

  345
  Citations

• Genetics of population isolates

  M Arcos-Burgos;M Muenke

  340
  Citations

• Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

  Ute Schell;Andreas Hehr;George J. Feldman;Nathaniel H. Robin

  319
  Citations