Hans-Hilger Ropers

发表

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human molecular genetics.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Reinhard Ullmann, Stefan Mundlos, Lynn Greenhalgh, 2007, American journal of human genetics.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2008, American journal of human genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Steffen Lenzner, André Rosenthal, A. Rosenthal, 1998, Nature Genetics.

On the future of genetic risk assessment

H. Ropers, Hans-Hilger Ropers, 2012, Journal of Community Genetics.

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Reinhard Ullmann, Wei Chen, Hao Hu, 2010, European Journal of Human Genetics.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Reinhard Ullmann, Cheng Fang, Kirsten Harvey, 2009, Human mutation.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.

Reiner Siebert, Zeynep Tümer, Karen Brondum-Nielsen, 2006, American journal of human genetics.