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Erich Roessler

Research Profile

Disorders

Holoprosencephaly

Chemicals & Drugs

Physiology

Concepts & Ideas

Genes & Molecular Sequences

Amino Acid Sequences

Procedures

DNA Mutational Analysis

Living Beings

Anatomy

Prosencephalon

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Publications

TOP 3
Kelly A Bear; Shobana Kubendran; Margaret O'Hara; Erich Roessler; Benjamin D Solomon; Daniel E Pineda Alvarez; Maximilian Muenke
Evidence for SHH as a candidate gene for encephalocele.
Kshitij Srivastava; Ping Hu; Jeffrey E Ming; Erich Roessler; Benjamin D Solomon; Maximilian Muenke
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
Erich Roessler; Raman Sood; Kshitij Srivastava; Blake Carrington; Laura Elnitski; Benjamin Feldman; Sung-Kook Hong; Ping Hu; Ward F Odenwald; Hanna Petrykowska; Lucilene A Ribeiro; Antonio Richieri-Costa; Maximilian Muenke
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.

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All Publications

2012: Kelly A Bear; Shobana Kubendran; Margaret O'Hara; Erich Roessler; Benjamin D Solomon; Daniel E Pineda Alvarez; Maximilian Muenke
Evidence for SHH as a candidate gene for encephalocele.
Clinical dysmorphology 2012;21(3):148-51.
2012: Kshitij Srivastava; Ping Hu; Jeffrey E Ming; Erich Roessler; Benjamin D Solomon; Maximilian Muenke
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
Molecular genetics and metabolism 2012;106(2):241-3.
2012: Erich Roessler; Raman Sood; Kshitij Srivastava; Blake Carrington; Laura Elnitski; Benjamin Feldman; Sung-Kook Hong; Ping Hu; Ward F Odenwald; Hanna Petrykowska; Lucilene A Ribeiro; Antonio Richieri-Costa; Maximilian Muenke
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
PloS one 2012;7(7):e39026.
2011: Daniel E Pineda-Alvarez; Erich Roessler; Benjamin D Solomon; Wadih M Zein; Joan Z Balog; Brian P Brooks; Donald W Hadley; Casey K Hadsall; Maximilian Muenke
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
American journal of medical genetics. Part A 2011;155A(11):2713-20.
2011: Nilrat Wannasilp; Benjamin D Solomon; Nicole Warren-Mora; Nancy J Clegg; Mauricio R Delgado; Felicitas Lacbawan; Ping Hu; Thomas L Winder; Erich Roessler; Maximilian Muenke
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
American journal of medical genetics. Part A 2011;155A(4):860-4.
2011: Emily F Kauvar; Ping Hu; Daniel E Pineda-Alvarez; Benjamin D Solomon; Amalia Dutra; Evgenia Pak; Brooke Blessing; Virginia Proud; Alan L Shanske; Cathy A Stevens; Jill A Rosenfeld; Lisa G Shaffer; Erich Roessler; Maximilian Muenke
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Molecular genetics and metabolism 2011;102(4):470-80.
2011: Sabina Domené; Horia Stanescu; Deeann Wallis; Bradford Tinloy; Daniel E Pineda; Robert Kleta; Mauricio Arcos-Burgos; Erich Roessler; Maximilian Muenke
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(1):11-8.
2010: Emily F Kauvar; Benjamin D Solomon; Cynthia J R Curry; Anthonie J van Essen; Nicole Janssen; Amalia Dutra; Erich Roessler; Maximilian Muenke
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):158-69.
2010: Benjamin D Solomon; Sandra Mercier; Jorge I Vélez; Daniel E Pineda-Alvarez; Adrian Wyllie; Nan Zhou; Christèle Dubourg; Veronique David; Sylvie Odent; Erich Roessler; Maximilian Muenke
Analysis of genotype-phenotype correlations in human holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):133-41.
2010: Daniel E Pineda-Alvarez; Christèle Dubourg; Véronique David; Erich Roessler; Maximilian Muenke
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):93-101.
2010: Erich Roessler; Maximilian Muenke
The molecular genetics of holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):52-61.
2009: Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia V Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Human mutation 2009;30(10):E921-35.
2009: Erich Roessler; Wuhong Pei; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge Ivan Veléz; Sharmilla Banerjee-Basu; Gretchen Gibney; Philip J Lupo; Laura E Mitchell; Jeffrey A Towbin; P Bowers; John W Belmont; Elizabeth Goldmuntz; Andreas D Baxevanis; Benjamin Feldman; Maximilian Muenke
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Molecular genetics and metabolism 2009;98(1-2):225-34.
2009: Benjamin D Solomon; Felicitas Lacbawan; Mahim Jain; Sabina Domené; Erich Roessler; Cynthia Moore; William B Dobyns; Maximilian Muenke
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
American journal of medical genetics. Part A 2009;149A(5):919-25.
2009: Erich Roessler; Yong Ma; Maia V Ouspenskaia; Felicitas Lacbawan; Claude Bendavid; Christèle Dubourg; Philip A Beachy; Maximilian Muenke
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Human genetics 2009;125(4):393-400.
2009: Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herbergs; Ute Hehr; Claude Bendavid; Nan Zhou; Maia V Ouspenskaia; Sherri Bale; Sylvie Odent; Vèronique David; Maximilian Muenke
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Human mutation 2009;30(4):E541-54.
2008: Sabina Domené; Erich Roessler; Kenia B El-Jaick; Mirit Snir; Jamie L Brown; Jorge I Vélez; Sherri Bale; Felicitas Lacbawan; Maximilian Muenke; Benjamin Feldman
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Human molecular genetics 2008;17(24):3919-28.
2008: Yongsu Jeong; Federico Coluccio Leskow; Kenia B El-Jaick; Erich Roessler; Maximilian Muenke; Anastasia Yocum; Christele Dubourg; Xue Li; Xin Geng; Guillermo Oliver; Douglas J Epstein
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Nature genetics 2008;40(11):1348-53.
2008: Erich Roessler; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge I Vélez; Amy Kantipong; Felicitas Lacbawan; P Bowers; John W Belmont; Jeffrey A Towbin; Elizabeth Goldmuntz; Benjamin Feldman; Maximilian Muenke
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
American journal of human genetics 2008;83(1):18-29.
2007: Jayaprakash D Karkera; J S Lee; Erich Roessler; Sharmila Banerjee-Basu; Maia V Ouspenskaia; J Mez; Elizabeth Goldmuntz; P Bowers; Jeffrey A Towbin; J W Belmont; Andreas D Baxevanis; Alexander F Schier; Maximilian Muenke
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
American journal of human genetics 2007;81(5):987-94.
2007: Kenia B El-Jaick; Shannon E Powers; Laurent Bartholin; Kenneth R Myers; Jin Hahn; Iêda M Orioli; Maia V Ouspenskaia; Felicitas Lacbawan; Erich Roessler; David Wotton; Maximilian Muenke
Functional analysis of mutations in TGIF associated with holoprosencephaly.
Molecular genetics and metabolism 2007;90(1):97-111.
2006: Yongsu Jeong; Kenia B El-Jaick; Erich Roessler; Maximilian Muenke; Douglas J Epstein
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.
Development (Cambridge, England) 2006;133(4):761-72.
2005: Erich Roessler; Alexandre N Ermilov; Dorothy Katherine Grange; Aiqin Wang; Marina Grachtchouk; Andrzej Dlugosz; Maximilian Muenke
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Human molecular genetics 2005;14(15):2181-8.
2003: Erich Roessler; Yang-Zhu Du; José L Mullor; Esther Casas; William P Allen; Gabriele Gillessen-Kaesbach; Elizabeth R Roeder; Jeffrey E Ming; Ariel Ruiz i Altaba; Maximilian Muenke
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(23):13424-9.
2003: Can Schell-Apacik; Mariel Rivero; Jessica L Knepper; Erich Roessler; Maximilian Muenke; Jeffrey E Ming
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
Human genetics 2003;113(2):170-7.
2003: Erich Roessler; Maximilian Muenke
How a Hedgehog might see holoprosencephaly.
Human molecular genetics 2003;12 Spec No 1():R15-25.
2003: Lisa A Schimmenti; June de la Cruz; Richard Alan Lewis; Jayaprakash D Karkera; Glenda S Manligas; Erich Roessler; Maximilian Muenke
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
American journal of medical genetics. Part A 2003;116A(3):215-21.
2002: June M de la Cruz; Richard N Bamford; Rebecca D Burdine; Erich Roessler; A James Barkovich; Dian Donnai; Alexander F Schier; Maximilian Muenke
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
Human genetics 2002;110(5):422-8.
2002: Jeffrey E Ming; Michelle E Kaupas; Erich Roessler; Han G Brunner; Mahin Golabi; Mustafa Tekin; Robert F Stratton; Eva Sujansky; Sherri J Bale; Maximilian Muenke
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Human genetics 2002;110(4):297-301.
2002: Elizabeth Goldmuntz; Richard N Bamford; Jayaprakash D Karkera; June dela Cruz; Erich Roessler; Maximilian Muenke
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
American journal of human genetics 2002;70(3):776-80.
2002: Jayaprakash D Karkera; Shai Izraeli; Erich Roessler; Amalia Dutra; I Kirsch; Maximilian Muenke
The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.
Cytogenetic and genome research 2002;97(1-2):62-7.
2001: R M Clark; PC Marker; Erich Roessler; Amalia Dutra; J C Schimenti; Maximilian Muenke; David M Kingsley
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
Genetics 2001;159(2):715-26.
2001: Erich Roessler; Maximilian Muenke
Midline and laterality defects: left and right meet in the middle.
BioEssays : news and reviews in molecular, cellular and developmental biology 2001;23(10):888-900.
2000: Richard N Bamford; Erich Roessler; Rebecca D Burdine; U Saplakoğlu; J dela Cruz; M Splitt; Judith A Goodship; Jeffrey A Towbin; P Bowers; GB Ferrero; B Marino; Alexander F Schier; Michael M Shen; Maximilian Muenke; Brett Casey
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Nature genetics 2000;26(3):365-9.
2000: K W Gripp; David Wotton; M C Edwards; Erich Roessler; L Ades; P Meinecke; A Richieri-Costa; Elaine H Zackai; J Massagué; Maximilian Muenke; S J Elledge
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Nature genetics 2000;25(2):205-8.
2000: Erich Roessler; Y Du; Andrei Glinka; Amalia Dutra; Christof Niehrs; Maximilian Muenke
The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
Cytogenetics and cell genetics 2000;89(3-4):220-4.
1999: L Nanni; Jeffrey E Ming; M Bocian; K Steinhaus; Diana Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; Erich Roessler; Maximilian Muenke
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Human molecular genetics 1999;8(13):2479-88.
1999: Erich Roessler; Maximilian Muenke
The molecular genetics of holoprosencephaly: a model of brain development for the next century.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1999;15(11-12):646-51.
1999: Erich Roessler; L Mittaz; Y Du; Hamish Scott; J Chang; Colette Rossier; Michel Guipponi; S P Matsuda; Maximilian Muenke; Stylianos E Antonarakis
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).
Human genetics 1999;105(5):489-95.
1999: D E Wallis; Erich Roessler; Ute Hehr; L Nanni; T Wiltshire; A Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; J Rommens; Maximilian Muenke
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Nature genetics 1999;22(2):196-8.
1999: L R Cornejo-Roldan; Erich Roessler; Maximilian Muenke
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Human genetics 1999;104(5):425-31.
1998: K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics 1998;63(3):703-10.
1998: Jeffrey E Ming; Erich Roessler; Maximilian Muenke
Human developmental disorders and the Sonic hedgehog pathway.
Molecular medicine today 1998;4(8):343-9.
1998: Erich Roessler; Maximilian Muenke
Holoprosencephaly: a paradigm for the complex genetics of brain development.
Journal of inherited metabolic disease 1998;21(5):481-97.
1998: K Gaudenz; Erich Roessler; S Vainikka; K Alitalo; Maximilian Muenke
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
Molecular genetics and metabolism 1998;64(1):76-9.
1998: F R Vargas; Erich Roessler; K Gaudenz; E Belloni; A S Whitehead; P N Kirke; J L Mills; G Hooper; R E Stevenson; I Cordeiro; P Correia; T Felix; R Gereige; Michael L Cunningham; S Canún; Stylianos Antonarakis; Tom Strachan; LC Tsui; SW Scherer; Maximilian Muenke
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Human genetics 1998;102(4):387-92.
1997: Erich Roessler; E Belloni; K Gaudenz; F Vargas; SW Scherer; LC Tsui; Maximilian Muenke
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Human molecular genetics 1997;6(11):1847-53.
1997: Erich Roessler; D E Ward; K Gaudenz; E Belloni; SW Scherer; Dian Donnai; J Siegel-Bartelt; LC Tsui; Maximilian Muenke
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
Human genetics 1997;100(2):172-81.
1996: R L Kelley; Erich Roessler; Raoul Hennekam; Gerald L Feldman; Kenjiro Kosaki; M C Jones; J C Palumbos; Maximilian Muenke
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
American journal of medical genetics 1996;66(4):478-84.
1996: Erich Roessler; E Belloni; K Gaudenz; Philippe Jay; Philippe Berta; Stephen W Scherer; Lap-Chee Tsui; Maximilian Muenke
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: E Belloni; Maximilian Muenke; Erich Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; Cynthia Helms; A V Hing; Hong-Qiang Heng; BF Koop; D Martindale; Johanna M Rommens; Lap-Chee Tsui; Stephen W Scherer
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics 1996;14(3):353-6.