2012 Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.
Am J Hum Genet. 2012 Jan 13;90(1):61-8.

2011

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature. 2011 Sep 21;478(7367):57-63.

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Am J Med Genet A. 2011 Sep 19. doi: 10.1002/ajmg.a.34230. [Epub ahead of print]

Stacher E*, Boldt V*, Leibl S, Halbwedl I, Popper HH, Ullmann R, Tavassoli FA, Moinfar F.
Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast.
Histopathology. 2011 Sep 10. doi: 10.1111/j.1365-2559.2011.03918.x. [Epub ahead of print]

Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N*, Ullmann R*, Møller RS.
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.
Hum Mutat. 2011 Aug 31. doi: 10.1002/humu.21585. [Epub ahead of print]
*shared corresponding authors
Evaluation of this article at: Faculty of 1000: 2012. F1000.com/13489101

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC Med Genet. 2011 Aug 9;12:106.

Steininger A*, Möbs M*, Ullmann R, Köchert K, Kreher S, Lamprecht B, Anagnostopoulos I, Hummel M, Richter J, Beyer M, Janz M, Klemke CD, Stein H, Dörken B, Sterry W, Schrock E, Mathas S, Assaf C.
Genomic loss of the putative tumor suppressor gene E2A in human lymphoma.
J Exp Med. 2011 Aug 1;208(8):1585-93.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Am J Hum Genet. 2011 Jul 15;89(1):176-82.

Mitter D, Ullmann R, Muradyan A, Klein-Hitpaß L, Kanber D, Ounap K, Kaulisch M, Lohmann D.
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
Eur J Hum Genet. 2011 Sep;19(9):947-958.

Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A.
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Hum Mol Genet. 2011 Jul 1;20(13):2585-90.

Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N.
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Eur J Med Genet. 2011 Jul-Aug;54(4):e383-8.

Muradyan A, Gilbertz K, Stabentheiner S, Klause S, Madle H, Meineke V, Ullmann R, Scherthan H.
Acute high-dose X-radiation-induced genomic changes in A549 cells.
Radiat Res. 2011 Jun;175(6):700-7.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Mol Psychiatry. 2011 May;16(5):491-503.

Jakobsen LP, Bugge M, Ullmann R, Schjerling CK, Borup R, Hansen L, Eiberg H, Tommerup N.
500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.
Am J Med Genet A. 2011 Mar;155A(3):652-5.

Fullston T, Gabb B, Callen D, Ullmann R, Woollatt E, Bain S, Ropers HH, Cooper M, Chandler D, Carter K, Jablensky A, Kalaydjieva L, Gecz J.
Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
Am J Med Genet B Neuropsychiatr Genet. 2011 Jan 13.

Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Hum Genet. 2011 Feb;129(2):141-8.

Tzschach A, Menzel C, Erdogan F, Istifli ES, Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Am J Med Genet A. 2010 Apr;152A(4):1008-12.

Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP.
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Am J Med Genet A. 2010 Mar;152A(3):638-45.

Boldt V, Stacher E, Halbwedl I, Popper H, Hultschig C, Moinfar F, Ullmann R*, Tavassoli FA*.
Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression.
Genes Chromosomes Cancer. 2010 May;49(5):463-70. *shared corresponding authors

Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH.
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Eur J Hum Genet. 2010 May;18(5):539-43. Epub 2009 Dec 2.

Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R.
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Eur J Hum Genet. 2010 Mar;18(3):291-5. Epub 2009 Oct 21.

Attarbaschi A, Pisecker M, Inthal A, Mann G, Janousek D, Dworzak M, Pötschger U, Ullmann R, Schrappe M, Gadner H, Haas OA, Panzer-Grümayer R, Strehl S; Austrian Berlin-Frankfurt-Münster (BFM) Study Group.
Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin-Frankfurt-Münster (BFM) protocols containing early and late re-intensification elements.
Br J Haematol. 2010 Jan;148(2):293-300. Epub 2009 Oct 11.

2009

Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O.
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
Am J Med Genet A. 2009 Oct;149A(10):2236-40.

Hilhorst-Hofstee Y, Tümer Z, Born P, Knijnenburg J, Hansson K, Yatawara V, Steensberg J, Ullmann R, Arkesteijn G, Tommerup N, Larsen LA.
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.
Am J Med Genet A. 2009 Aug;149A(8):1830-3.

Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH.
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
Am J Med Genet A. 2009 Jul;149A(7):1544-9.

Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Müller D, Riebel T, Horn D, Maringa M, Weber J, Ullmann R, Grüters A.
Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
J Clin Endocrinol Metab. 2009 Jul;94(7):2658-64. Epub 2009 May 5.

Zatkova A, Merk S, Wendehack M, Bilban M, Muzik EM, Muradyan A, Haferlach C, Haferlach T, Wimmer K, Fonatsch C, Ullmann R.
AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes.
Genes Chromosomes Cancer. 2009 Jun;48(6):510-20.

Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Eur J Hum Genet. 2009 Aug;17(8):1010-8. Epub 2009 Jan 28.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel HInterstitial Deletion 2p11.2-p12: Report of a Mentally Retarded Patient and Review ofthe LiteratureAm J Med Genet A. 2009 Jan 15;149A(2):242-5.

2008

Ullmann R.Strukturelle Genomvarianten – Ausmaß, Enstehung und phänotypische Konsequenzen.
Medizinische Genetik. 2008 Dec 20(4):401-406

Shoichet SA, Waibel S, Endruhn S, Sperfeld AD, Vorwerk B, Muller I, Erdogan F, Ludolph AC, Ropers HH, Ullmann R.Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization.Amyotroph Lateral Scler. 2008 Nov 4:1-8. PMID: 18985462

Raile K, Klopocki E, Wessel T, Deiss D, Horn D, Müller D, Ullmann R, Grüters A.
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects.
Diabetes Care. 2008 Nov;31(11):e83.

Tészás A, Møller RS, Kellermayer R, Czakó M, Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G.
A cryptic unbalanced translocation resulting in del 13q and dup 15q.
Am J Med Genet A. 2008 Oct 1;146A(19):2570-3.   

                                        

Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R.
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease.
J Med Genet. 2008 Aug 19.

Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nat Genet. 2008 Sep;40(9):1065-7.

Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z.
Investigation of 4q-deletion in two unrelated patients using array CGH.
Am J Med Genet A. 2008 Sep 15;146A(18):2431-4.

Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D.
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
Eur J Med Genet. 2008 Jul 12.

Steichen-Gersdorf E, Gaßner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S.
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Clin Genet. 2008 Jun 23. [Epub ahead of print]

Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ.
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Hum Mutat. 2008 Jul 9. [Epub ahead of print]

Muradyan A, Boldt V, Steininger A, Stabentheiner S, Tebel K, Kreutzberger J, Müller I, Madle H, Popper HH, Ullmann R.
An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors.
Arch Pathol Lab Med. 2008 Oct;132(10):1557-61.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CM, Smeets DF, Menzel C, Ullmann R, Musante L, Ropers HH.
Am J Med Genet A. 2008 Aug 15;146A(16):2053-9.

Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM.
Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly.
Am J Hum Genet. 2008 Apr 9

Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S.
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Ophthalmic Genet. 2008 Mar;29(1):37-40.

Reinhard Ullmann
Array Comparative Genomic Hybridization in Pathology
In: Molecular Pathology of Lung Diseases (Series Ed. Philip T. Cagle). 2008; pp97-107. ISBN 978-0-387-72429-4. Springer Verlag Heidelberg

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz M, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser BG, Vingron M, Ropers HH.
Mapping translocation breakpoints by next-generation sequencing.
Genome Res. 2008 Mar 7; [Epub ahead of print]

Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N.
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Eur J Hum Genet. 2008 Mar;16(3):312-9.

Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z.
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Epilepsia. 2008 Feb 18; [Epub ahead of print]

Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, Burrows L, Shaw M, Wei C, Ullmann R, Ropers HH, Szepetowski P, Haan E, Mazarib A, Afawi Z, Neufeld MY, Andrews PI, Wallace G, Kivity S, Lev D, Lerman-Sagie T, Derry CP, Korczyn AD, Gecz J, Mulley JC, Berkovic SF.
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain. 2008 Jan 29; [Epub ahead of print]

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.
Chromosome deletions in 13q33-34: Report of four patients and review of the literature.
Am J Med Genet A. 2008 Feb 1;146(3):337-42. 

Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K.
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
J Med Genet. 2008 Jan 4; [Epub ahead of print]

Joyce So, Ines Müller, Melanie Kunath, Susanne Herrmann, Reinhard Ullmann, Susann Schweiger
Diagnosis of a terminal deletion of 4p with Duplication of Xp22.31 in a Patient with Clinical Features of Opitz BBB/G Syndrome
Am J Med Genet A. 2008 Jan 1;146(1):103-9.

Andreas Tzschach, Wei Chen, Fikret Erdogan, Adelheid Hoeller, Hans-Hilger Ropers, Claudio Castellan, Reinhard Ullmann, and Albert Schinzel
Characterization of Interstitial Xp Duplications in Two Families by Tiling Path Array CGH
Am J Med Genet A. 2008 Jan 15;146(2):197-203.

2007

George Kirov, Dilihan Gumus, Wei Chen, Nadine Norton, Lyudmila Georgieva, Murat Sari, Michael C O’Donovan, Fikret Erdogan, Michael J Owen, Hans-Hilger Ropers and Reinhard Ullmann
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Hum Mol Genet. 2007 Nov 6; [Epub ahead of print]

Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH, Tommerup N, Ullmann R, Tümer Z, Larsen LA
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly
Eur J Med Genet. 2007 Oct 11; [Epub ahead of print]

Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E.
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Cytogenet Genome Res. 2007;119(1-2):158-64. Epub 2007 Dec 14.

Andreas Tzschach, Christian Ramel, Anja Kron, Barbara Seipel, Christian Wüster, Uwe Cordes, Thomas Liehr, Maria Hoeltzenbein, Corinna Menzel, Hans-Hilger Ropers, Reinhard Ullmann, Vera Kalscheuer, Jochen Decker, Daniela Steinberger
Hypergonadotropic hypogonadism in a patient with inv ins (2;4)
Int J Androl. 2007 Nov 26; [Epub ahead of print]

Jakobsen LP, Ullmann R, Kjaer KW, Knudsen MA, Tommerup N, Eiberg H.
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.
Am J Med Genet A. 2007 Nov 15;143(22):2716-21.

Moller R, Hansen C, Jackson G, Ullmann R, Ropers H, Tommerup N, Tumer Z.
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
Clin Genet. 2007 Oct 17; [Epub ahead of print]

Klopocki E, Graul-Neumann LM, Grieben U, Tonnies H, Ropers HH, Horn D, Mundlos S, Ullmann R.
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
Eur J Pediatr. 2007 Oct 12; [Epub ahead of print]

Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C.
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
Am J Hum Genet. 2007 Nov;81(5):1057-69. Epub 2007 Sep 26.

Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW.
A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation.
Am J Hum Genet. 2007 Oct;81(4):792-8

Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Molsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tumer Z.   
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
J Med Genet. 2007 Jun;44(6):381-6.

Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F.   
Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Muller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH.   
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Hum Mutat. 2007 Jul;28(7):674-82.

Meyer S, Fergusson WD, Whetton AD, Moreira-Leite F, Pepper SD, Miller C, Saunders EK, White DJ, Will AM, Eden T, Ikeda H, Ullmann R, Tuerkmen S, Gerlach A, Klopocki E, Tonnies H.   
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.
Genes Chromosomes Cancer. 2007 Apr;46(4):359-72.

Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R.   
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Hum Genet. 2007 May;121(3-4):501-9.

Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S.   
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Am J Hum Genet. 2007 Feb;80(2):232-40.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.   
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
Am J Med Genet A. 2007 Feb 15;143(4):333-7.

Gratias S, Rieder H, Ullmann R, Klein-Hitpass L, Schneider S, Boloni R, Kappler M, Lohmann DR.   
Allelic  loss in a minimal region on chromosome 16q24 is associated with  vitreous seeding of retinoblastoma
Cancer Res. 2007 Jan 1;67(1):408-16.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A.   
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
Am J Med Genet A. 2007 Jan 15;143(2):172-8.

2006

Fikret Erdogan , Wei Chen , Maria Kirchhoff , Vera M. Kalscheuer , Claus Hultschig , Ines Müller , Ralph Schulz , Corinna Menzel , Thue Bryndorf , Hans-Hilger Ropers , Reinhard Ullmann
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.
Cytogenet Genome Res 2006;115:247-253

Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E.
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006;115(1):84-9.

Muller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R.
A complex phenotype with cystic renal disease.
Kidney Int. 2006 Aug 16

Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R.
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Eur J Hum Genet. 2006 Aug 9

Klopocki E, Fiebig B, Robinson P, Tonnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R.
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Am J Med Genet A. 2006 Apr 15;140(8):873-7.

Baekvad-Hansen M, Tumer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. 
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.
Am J Med Genet A. 2006 Mar 1;140(5):427-33.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Ruschendorf F, Nurnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Hum Genet. 2006 Feb 26;1-8

2005

Wieser, R., Fritz, B., Ullmann, R., Müller, I., Galhuber, M., Storlazzi, C. T., Ramaswamy, A., Christiansen, H., Shimizu, N., and Rehder, H.
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome like phenotype and rhabdoid tumor of the kidney.
Hum Mutat. 2005 Aug;26(2):78-83

Halbwedl I, Ullmann R, Kremser ML, Man YG, Isadi-Moud N, Lax S, Denk H, Popper HH, Tavassoli FA, Moinfar F.
Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization.
Gynecol Oncol. 2005 May;97(2):582-7.

Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R.
CGHPRO--a comprehensive data analysis tool for array CGH.
BMC Bioinformatics. 2005 Apr 5;6(1):85.

2004

Ullmann R, Morbini P, Halbwedl I, Bongiovanni M, Gogg-Kammerer M, Papotti M, Gabor S, Renner H, Popper HH.         Protein expression profiles in adenocarcinomas and squamous cell carcinomas of the lung generated using tissue microarrays.
J Pathol. 2004 Jul;203(3):798-807.

Petzmann S, Ullmann R, Halbwedl I, Popper HH.      
Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study.
Virchows Arch. 2004 Jul 3

Stacher E, Ullmann R, Halbwedl I, Gogg-Kammerer M, Boccon-Gibod L, Nicholson AG, Sheppard MN, Carvalho L, Franca MT, Macsweeney F, Morresi-Hauf A, Popper HH.
Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis.
Hum Pathol. 2004 May; 35(5): 565-70

Zatkova A, Ullmann R, Rouillard JM, Lamb BJ, Kuick R, Hanash SM, Schnittger S, Schoch C, Fonatsch C, Wimmer K.     Distinct sequences on 11q13.5 and 11q23-24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients.
Genes Chromosomes Cancer. 2004 Apr;39(4):263-76.

2003

Ullmann R, Bongiovanni M, Halbwedl I, Fraire AE, Cagle PT, Mori M, Papotti M, Popper HH.
Is high grade adenomatous hyperplasia an early bronchioloalveolar adenocarcinoma?
J Pathol. 2003 Nov;201(3):371-376