New Perspectives for the Elucidation of Genetic Disorders

per Ropers, Hans-Hilger 
Publicat 2007

Single gene disorders come into focus - again

per Ropers, Hans-Hilger
Publicat 2010

On the future of genetic risk assessment

per Ropers, Hans-Hilger
Publicat 2012

Reply to Mandel

per Salomons, Gajja S., Ropers, Hans-Hilger
Publicat 2004

Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays

per Erdogan, Fikret, Kirchner, Roland, Mann, Wolfgang, Ropers, Hans-Hilger, Nuber, Ulrike A.
Publicat 2001

UniGene cDNA array-based monitoring of transcriptome changes during mouse placental development

per Hemberger, Myriam, Cross, James C., Ropers, Hans-Hilger, Lehrach, Hans, Fundele, Reinald, Himmelbauer, Heinz
Publicat 2001

Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes

per Grützner, Frank, Crollius, Hugues Roest, Lütjens, Götz, Jaillon, Olivier, Weissenbach, Jean, Ropers, Hans-Hilger, Haaf, Thomas
Publicat 2002

Genomic Structure and Comparative Analysis of Nine Fugu Genes: Conservation of Synteny with Human Chromosome Xp22.2–p22.1

per Brunner, Bodo, Todt, Tilman, Lenzner, Steffen, Stout, Karen, Schulz, Ute, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Publicat 1999

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

per Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Publicat 2007

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

per Kahrizi, Kimia, Najmabadi, Hossein, Kariminejad, Roxana, Jamali, Payman, Malekpour, Mahdi, Garshasbi, Masoud, Ropers, Hans Hilger, Kuss, Andreas Walter, Tzschach, Andreas
Publicat 2009

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

per Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus
Publicat a Eur J Hum Genet (2017)

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

per Hu, Hao, Suckow, Vanessa, Musante, Luciana, Roggenkamp, Viola, Kraemer, Nadine, Ropers, Hans-Hilger, Hübner, Christoph, Wienker, Thomas F, Kaindl, Angela M
Publicat 2014

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

per Garshasbi, Masoud, Hadavi, Valeh, Habibi, Haleh, Kahrizi, Kimia, Kariminejad, Roxana, Behjati, Farkhondeh, Tzschach, Andreas, Najmabadi, Hossein, Ropers, Hans Hilger, Kuss, Andreas Walter
Publicat 2008

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

per Møller, Rikke S., Kübart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M.
Publicat 2008

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

per Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Publicat 2009

The Opitz syndrome gene product, MID1, associates with microtubules

per Schweiger, Susann, Foerster, John, Lehmann, Tanja, Suckow, Vanessa, Muller, Yves A., Walter, Gerald, Davies, Theresa, Porter, Helen, van Bokhoven, Hans, Lunt, Peter W., Traub, Peter, Ropers, Hans-Hilger
Publicat 1999

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

per Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Publicat 2004

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

per Gilling, Mette, Dullinger, Jörn S., Gesk, Stefan, Metzke-Heidemann, Simone, Siebert, Reiner, Meyer, Thomas, Brondum-Nielsen, Karen, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M., Thomas, N. Simon
Publicat 2006

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

per Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger, Kalscheuer, Vera M, Ullmann, Reinhard
Publicat 2010

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

per Mehvari, Sepideh, Larti, Farzaneh, Hu, Hao, Fattahi, Zohreh, Beheshtian, Maryam, Abedini, Seyedeh Sedigheh, Arzhangi, Sanaz, Ropers, Hans‐Hilger, Kalscheuer, Vera M., Auld, Daniel, Kahrizi, Kimia, Riazalhosseini, Yasser, Najmabadi, Hossein
Publicat a Mol Genet Genomic Med (2020)