R. Ullmann

发表

Mapping translocation breakpoints by next-generation sequencing.

Martin Vingron, Marcel H. Schulz, Fikret Erdogan, 2008, Genome research.

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

V. Kalscheuer, A. Tzschach, R. Ullmann, 2013, Human Genetics.

Chromosomal aberrations in a series of large-cell neuroendocrine carcinomas: unexpected divergence from small-cell carcinoma of the lung.

H. Popper, P. Cagle, R. Ullmann, 2001, Human pathology.

Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7

P. Arndt, R. Ullmann, A. Lind-Thomsen, 2014, BMC Genomics.

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

N. Tommerup, H. Ropers, E. Niebuhr, 2007, Human Genetics.

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

D. Horn, S. Mundlos, H. Ropers, 2007, European Journal of Pediatrics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

A. Rump, D. Mitter, A. Tzschach, 2012, European Journal of Human Genetics.

Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line

R. Ullmann, C. Schmidt, G. Przybylski, 2018, Front. Oncol..

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Analysis of Gene Expression Changes in PHA-M Stimulated Lymphocytes – Unraveling PHA Activity as Prerequisite for Dicentric Chromosome Analysis

C. Beinke, R. Ullmann, M. Port, 2018, Radiation Research.

Gene Expression Analysis in Human Peripheral Blood Cells after 900 MHz RF-EMF Short-Term Exposure

M. Dudzinski, L. Fichte, M. Stiemer, 2018, Radiation Research.

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

D. Mitter, L. Klein-Hitpass, K. Õunap, 2011, European Journal of Human Genetics.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Z. Tümer, N. Tommerup, H. Ropers, 2011, Human mutation.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

Yiping Shen, Hyung-Goo Kim, P. McDonough, 2014, Molecular and Cellular Endocrinology.

Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia

C. Eckert, G. Henze, K. Seeger, 2014, Haematologica.

Gene expression changes in human iPSC-derived cardiomyocytes after X-ray irradiation

R. Ullmann, M. Port, M. Abend, 2018, International journal of radiation biology.

Loss of heterozygosity on chromosome arm 11q in lung carcinoids.

H. Popper, R. Ullmann, S. Petzmann, 2001, Human pathology.

Bronchiolar columnar cell dysplasia—genetic analysis of a novel preneoplastic lesion of peripheral lung

M. Papotti, H. Popper, A. Sapino, 2003, Virchows Archiv.

Protein expression profiles in adenocarcinomas and squamous cell carcinomas of the lung generated using tissue microarrays

M. Papotti, H. Popper, R. Ullmann, 2004, The Journal of pathology.

Inactivation of RUNX3/p46 Promotes Cutaneous T-Cell Lymphoma.

D. Lenze, M. Hummel, R. Ullmann, 2016, The Journal of investigative dermatology.

Christianson syndrome in a patient with an interstitial Xq26.3 deletion

W. Reith, A. Tzschach, R. Ullmann, 2011, American journal of medical genetics. Part A.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

J. Rosenfeld, B. V. van Bon, K. Friend, 2015, Human molecular genetics.

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

H. Ropers, V. Kalscheuer, A. Tzschach, 2010, European Journal of Human Genetics.

X-ray irradiation induces subtle changes in the genome-wide distribution of DNA hydroxymethylation with opposing trends in genic and intergenic regions

R. Ullmann, M. Port, B. Becker, 2019, RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren.

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Z. Tümer, N. Tommerup, R. Møller, 2008, Epilepsia.

Epilepsy and mental retardation limited to females: an under-recognized disorder.

K. Friend, I. Scheffer, M. Shaw, 2008, Brain : a journal of neurology.

Characterization of interstitial Xp duplications in two families by tiling path array CGH

Wei Chen, H. Ropers, A. Tzschach, 2008, American journal of medical genetics. Part A.

Mowat–Wilson syndrome: an underdiagnosed syndrome?

Z. Tümer, N. Tommerup, R. Møller, 2008, Clinical genetics.

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

H. Ropers, V. Kalscheuer, A. Tzschach, 2007, American journal of medical genetics. Part A.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement

H. Ropers, V. Kalscheuer, A. Tzschach, 2010, American journal of medical genetics. Part A.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Title Expanded clinical spectrum in HNF1B-MODY

D. Horn, A. Grüters, E. Klopocki, 2009 .

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

J. Almeida, G. Oliveira, A. Sequeira, 2012, Front. Genet..

Initial experience on abdominal photon-counting computed tomography in clinical routine: general image quality and dose exposure

R. Ullmann, M. Port, S. Waldeck, 2022, European Radiology.

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

S. Mundlos, C. Ott, E. Klopocki, 2008, Journal of Medical Genetics.

Is high‐grade adenomatous hyperplasia an early bronchioloalveolar adenocarcinoma?

M. Papotti, H. Popper, P. Cagle, 2003, The Journal of pathology.

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation

V. Kalscheuer, C. Menzel, R. Ullmann, 2006, Cytogenetic and Genome Research.

MEF2C-dysregulated pediatric T-cell acute lymphoblastic leukemia is associated with CDKN1B deletions and a poor response to glucocorticoid therapy

M. König, O. Haas, M. Kauer, 2017, Leukemia & lymphoma.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Cheol‐Hee Kim, M. Tekin, T. Nagase, 2010, American journal of human genetics.

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

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

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

N. Tommerup, H. Eiberg, R. Ullmann, 2011, American Journal of Medical Genetics. Part A.

Dysfunction of the heteromeric K V 7 . 3 / K V 7 . 5 potassium channel is associated with autism spectrum disorders

J. Almeida, G. Oliveira, A. Sequeira, 2013 .

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American journal of human genetics.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

SLC2A3 single‐nucleotide polymorphism and duplication influence cognitive processing and population‐specific risk for attention‐deficit/hyperactivity disorder

B. Franke, K. Lesch, J. Buitelaar, 2017, Journal of child psychology and psychiatry, and allied disciplines.

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.

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Wei Chen, Z. Tümer, N. Tommerup, 2008, Journal of Medical Genetics.

Genomic Adaption and Mutational Patterns in a HaCaT Subline Resistant to Alkylating Agents and Ionizing Radiation

H. Scherthan, R. Ullmann, A. Schmidt, 2021, International journal of molecular sciences.

Impact of Ionizing Radiation on Electrophysiological Behavior of Human-induced Ipsc-derived Cardiomyocytes on Multielectrode Arrays

Markus H. Antwerpen, T. Beiert, R. Ullmann, 2018, Health physics.

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

O. Haas, M. Schrappe, A. Attarbaschi, 2010, British journal of haematology.

O. Haas, M. Schrappe, A. Attarbaschi, 2010, British Journal of Haematology.

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

R. Ullmann, C. Windpassinger, E. Petek, 2006, Cytogenetic and Genome Research.

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

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

Genomic loss of the putative tumor suppressor gene E2A in human lymphoma

C. Klemke, H. Stein, B. Dörken, 2011, The Journal of experimental medicine.

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

H. Ropers, A. Kariminejad, A. Tzschach, 2009, American journal of medical genetics. Part A.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome‐like phenotype and rhabdoid tumor of the kidney

R. Wieser, H. Rehder, R. Ullmann, 2005, Human mutation.

Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.

Stephanie Schneider, L. Klein-Hitpass, R. Ullmann, 2007, Cancer research.

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

E. Derivery, A. Gautreau, K. Sperling, 2011, Human molecular genetics.

A cryptic unbalanced translocation resulting in del 13q and dup 15q

N. Tommerup, R. Ullmann, B. Melegh, 2008, American journal of medical genetics. Part A.

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure.

Domenico Trombetta, Reinhard Ullmann, Peter F Ambros, 2010, Genome research.

Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

R. Ullmann, P. Wieacker, M. Volleth, 2010, Sexual Development.

Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome

J. So, R. Ullmann, S. Schweiger, 2008, American journal of medical genetics. Part A.

Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis.

A. Nicholson, M. Sheppard, H. Popper, 2004, Human pathology.

The position of pulmonary carcinoids within the spectrum of neuroendocrine tumors of the lung and other tissues

Reinhard Ullmann, Helmut H Popper, P. Hasleton, 2002, Genes, chromosomes & cancer.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Z. Tümer, N. Tommerup, Y. Mang, 2011, European journal of medical genetics.

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

V. Kalscheuer, A. Tzschach, R. Ullmann, 2013, Human 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.

A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.

M. Nöthen, J. Ott, Wei Chen, 2020, Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie.

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

A. Latos-Bieleńska, H. Ropers, M. Wiśniewska, 2008, American journal of medical genetics. Part A.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome

H. Ropers, C. V. van Ravenswaaij-Arts, D. Smeets, 2008, American journal of medical genetics. Part A.

Chromosomal aberrations as detected by array comparative genomic hybridization in early low‐grade intraepithelial neoplasias of the breast

H. Popper, R. Ullmann, F. Moinfar, 2011, Histopathology.

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

R. Ullmann, M. Kirchhoff, F. Skovby, 2007, European journal of medical genetics.

Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

S. Mundlos, H. Ropers, E. Klopocki, 2006, European Journal of Human Genetics.

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.

Z. Tümer, N. Tommerup, H. Ropers, 2008, European journal of medical genetics.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Reinhard Ullmann, Juliane Hoyer, Arif B Ekici, 2011, BMC Medical Genetics.

Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2010, American journal of medical genetics. Part A.

Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV‐3

R. Siebert, O. Janssen, R. Ullmann, 2013, Genes, chromosomes & cancer.

Unbalanced chromosomal aberrations in neuroendocrine lung tumors as detected by comparative genomic hybridization.

I. Petersen, H. Popper, R. Ullmann, 1998, Human pathology.

Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.

H. Biebermann, H. Krude, R. Ullmann, 2010, The Journal of clinical endocrinology and metabolism.

Distinct sequences on 11q13.5 and 11q23–24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients

R. Kuick, J. Rouillard, S. Schnittger, 2004, Genes, chromosomes & cancer.

Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization.

H. Denk, H. Popper, R. Ullmann, 2005, Gynecologic oncology.

A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

P. Robinson, S. Mundlos, H. Ropers, 2006, American journal of medical genetics. Part A.

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

N. Papadopoulos, Z. Tümer, N. Tommerup, 2009, European Journal of Human 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.

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Z. Tümer, N. Tommerup, L. Larsen, 2007, Journal of Medical Genetics.

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

T. Haaf, E. Seemanová, R. Ullmann, 2007, Cytogenetic and Genome Research.

GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants

R. Ullmann, M. Port, Vivien Boldt, 2017, BMC Bioinformatics.

Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization

H. Ropers, A. Ludolph, R. Ullmann, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Acute High-Dose X-Radiation-Induced Genomic Changes in A549 Cells

H. Scherthan, R. Ullmann, V. Meineke, 2011, Radiation research.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

D. Horn, A. Grüters, E. Klopocki, 2009, The Journal of clinical endocrinology and metabolism.

HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents

D. Horn, A. Grüters, E. Klopocki, 2008, Diabetes Care.

Array Comparative Genomic Hybridization in Pathology

R. Ullmann, 2008 .

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

Wei Chen, H. Ropers, C. Spaich, 2007, American Journal of Medical Genetics. Part A.

Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome

R. Ullmann, O. Mutchinick, C. N. Semerci, 2010, American journal of medical genetics. Part A.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

K. R. Jun, Hyung-Goo Kim, R. Ullmann, 2014, Molecular Cytogenetics.

Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature

A. Tzschach, R. Ullmann, L. Graul-Neumann, 2009, American journal of medical genetics. Part A.

Case report supporting that the Barber–Say and ablepharon macrostomia syndromes could represent one disorder

T. Haaf, R. Ullmann, M. Zenker, 2009, American journal of medical genetics. Part A.

CGHPRO – A comprehensive data analysis tool for array CGH

Wei Chen, Fikret Erdogan, H.-Hilger Ropers, 2005, BMC Bioinformatics.

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.

D. Horn, S. Mundlos, E. Klopocki, 2008, European journal of medical genetics.

Subtelomeric 6 p Monosomy and 12 q Trisomy in a Patient With a 46

R. Ullmann, C. N. Semerci, E. Tepeli, 2010 .

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

Fassnacht, A Dempfle, K. Lesch, 2011, Molecular Psychiatry.

Hypergonadotropic hypogonadism in a patient with inv ins (2;4).

V. Kalscheuer, A. Tzschach, C. Menzel, 2009, International journal of andrology.

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

H. Ropers, V. Kalscheuer, A. Tzschach, 2008, Ophthalmic genetics.

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Benjamin R. Rost, H. Ropers, D. Schmitz, 2007, American journal of human genetics.

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia

J. Gécz, A. Jablensky, L. Kalaydjieva, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia‐derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

Reinhard Ullmann, Crispin Miller, Crispin J. Miller, 2007, Genes, chromosomes & cancer.

Pre-Exposure Gene Expression in Baboons with and without Pancytopenia after Radiation Exposure

R. Ullmann, M. Port, M. Abend, 2017, International journal of molecular sciences.

CT Irradiation-induced Changes of Gene Expression within Peripheral Blood Cells

R. Ullmann, M. Port, M. Abend, 2020, Health physics.

Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study

H. Popper, R. Ullmann, S. Petzmann, 2004, Virchows Archiv.

Gene expression for biodosimetry and effect prediction purposes: promises, pitfalls and future directions – key session ConRad 2021

S. Amundson, R. Terbrueggen, F. Zenhausern, 2021, International journal of radiation biology.

MicroRNA Expression for Early Prediction of Late Occurring Hematologic Acute Radiation Syndrome in Baboons

R. Ullmann, M. Port, M. Abend, 2016, PloS one.

An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors.

H. Popper, R. Ullmann, A. Muradyan, 2008, Archives of pathology & laboratory medicine.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

S. Haas, P. Huppke, S. Kaler, 2012, American journal of human genetics.

Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24

Z. Tümer, N. Tommerup, L. Larsen, 2009, American journal of medical genetics. Part A.

A complex phenotype with cystic renal disease.

S. Mundlos, M. Taupitz, E. Klopocki, 2006, Kidney international.

11q14.1‐11q22.1 deletion in a 1‐year‐old male with minor dysmorphic features

H. Ropers, A. Kariminejad, A. Tzschach, 2010, American journal of medical genetics. Part A.

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe

Z. Tümer, N. Tommerup, R. Ullmann, 2007, Clinical genetics.

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

S. Christian, D. Horn, J. Golden, 2008 .

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Wei Chen, A. Tzschach, R. Ullmann, 2011, European Journal of Human Genetics.

Impact of medical imaging on the epigenome – low-dose exposure in the course of computed tomography does not induce detectable changes of DNA-methylation profiles in peripheral blood cells

R. Ullmann, M. Port, S. Waldeck, 2021, International journal of radiation biology.

AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes

T. Haferlach, C. Haferlach, K. Wimmer, 2009, Genes, chromosomes & cancer.

Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3.

K. Lesch, T. Haaf, R. Ullmann, 2018, Stem cell research.

A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

Carsten Elbro, Reinhard Ullmann, Asli Silahtaroglu, 2010, Behavior genetics.

Gene expression changes and DNA damage after ex vivo exposure of peripheral blood cells to various CT photon spectra

H. Scherthan, R. Ullmann, M. Port, 2021, Scientific Reports.

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family

N. Tommerup, H. Eiberg, R. Ullmann, 2007, American journal of medical genetics. Part A.

Exploring the Link between Radiation Exposure and Multifocal Basal Cell Carcinomas in a Former Chernobyl Clean-up Worker by Combining Different Molecular Biological Techniques

C. Beinke, R. Ullmann, M. Port, 2017, Radiation Research.

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

S. Mundlos, E. Klopocki, R. Ullmann, 2008, Clinical genetics.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.

Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression

H. Popper, R. Ullmann, C. Hultschig, 2010, Genes, chromosomes & cancer.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

L. Shaffer, Cheol‐Hee Kim, M. MacDonald, 2012, American Journal of Human Genetics.

Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Z. Tümer, N. Tommerup, R. Møller, 2010, American journal of medical genetics. Part A.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

H. Ropers, H. Christen, A. Grüters, 2014, Journal of Medical Genetics.

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

G. Oliveira, A. Vicente, R. Cotterill, 2008, European Journal of Human Genetics.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

P. Huppke, S. Kaler, J. Christodoulou, 2012, American journal of human genetics.

GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants

Reinhard Ullmann, Katrin Tebel, Vivien Boldt, 2017, BMC Bioinformatics.