Publications



2017

Cui H.; Bansal V.; Grunert M.; Malecova B.; Dall Agnese A.; Latella L.; Gatto S.; Ryan T.; Schulz K.; Chen W.; Dorn C.; Puri P.L.; Sperling S.R.
Muscle-relevant genes marked by stable H3K4me2/3 profiles and enriched MyoD binding during myogenic differentiation
PLoS ONE 12 (6): e0179464 (2017-06-13)



2016

Grunert M.; Dorn C.; Cui H.; Dunkel I.; Schulz K.; Schoenhals S.; Sun W.; Berger F.; Chen W.; Sperling S.R.
Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases
Cardiovascular Research 112 (1): 464-477 (2016-10-01)



Claes G.R.F.; van Tienen F.H.J.; Lindsey P.; Krapels I.P.C.; Helderman-van den Enden A.T.J.M.; Hoos M.B.; Barrois Y.E.G.; Janssen J.W.H.; Paulussen A.D.C.; Sels J.W.E.M.; Kuijpers S.H.H.; van Tintelen J.P.; van den Berg M.P.; Heesen W.F.; Garcia-Pavia P.; Perrot A.; Christiaans I.; Salemink S.; Marcelis C.L.M.; Smeets H.J.M.; Brunner H.G.; Volders P.G.A.; van den Wijngaard A.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
European Heart Journal 37 (23): 1815-1822 (2016-06-14)



Cui H.; Schlesinger J.; Schoenhals S.; Toenjes M.; Dunkel I.; Meierhofer D.; Cano E.; Schulz K.; Berger M.F.; Haack T.; Abdelilah-Seyfried S.; Bulyk M.L.; Sauer S.; Sperling S.R.
Phosphorylation of the chromatin remodeling factor DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA
Nucleic Acids Research 44 (6): 2538-2553 (2016-04-07)



Perrot A.; Tomasov P.; Villard E.; Faludi R.; Melacini P.; Lossie J.; Lohmann N.; Richard P.; De Bortoli M.; Angelini A.; Varga-Szemes A.; Sperling S.R.; Simor T.; Veselka J.; Oezcelik C.; Charron P.
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies
Archives of Medical Science 12 (2): 263-278 (2016-04)



Perez-Pomares J.M.; de la Pompa J.L.; Franco D.; Henderson D.; Ho S.Y.; Houyel L.; Kelly R.G.; Sedmera D.; Sheppard M.; Sperling S.; Thiene G.; van den Hoff M.; Basso C.
Congenital coronary artery anomalies: a bridge from embryology to anatomy and pathophysiology-a position statement of the development, anatomy, and pathology ESC Working Group
Cardiovascular Research 109 (2): 204-216 (2016-02-01)



Bellmann K.; Perrot A.; Rickert-Sperling S.
Human genetics of ventricular septal defect
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : 307-328 (2016)



Dorn C.; Perrot A.; Rickert-Sperling S.
Human genetics of tetralogy of fallot and double outlet right ventricle
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : 403-416 (2016)



Perrot A.; Rickert-Sperling S.
Human genetics of defects of situs
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : 463-472 (2016)



Dorn C.; Grunert M.; Dopazo A.; Sanchez-Cabo F.; Gatto A.; Vazquez J.; Rickert-Sperling S.; Lara-Pezzi E.
Technologies to study genetics and molecular pathways
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : 251-269 (2016)



Rickert-Sperling S.; Kelly R.G.; Driscoll D.J.
Preface
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : ix-x (2016)



Rickert-Sperling S.; Kelly R.G.; Driscoll D.J.
Congenital heart diseases: the broken heart : clinical features, human genetics and molecular pathways
: (2016)



Grunert M.; Dorn C.; Rickert-Sperling S.
Cardiac transcription factors and regulatory networks
Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways : 139-152 (2016)



2015

Buyandelger B.; Mansfield C.; Kostin S.; Choi O.; Roberts A.M.; Ware J.S.; Mazzarotto F.; Pesce F.; Buchan R.; Isaacson R.L.; Vouffo J.; Gunkel S.; Knoell G.; McSweeney S.J.; Wei H.; Perrot A.; Pfeiffer C.; Toliat M.R.; Ilieva K.; Krysztofinska E.; Lopez-Olaneta M.M.; Gomez-Salinero J.M.; Schmidt A.; Ng K.E.; Teucher N.; Chen J.; Teichmann M.; Eilers M.; Haverkamp W.; Regitz-Zagrosek V.; Hasenfuss G.; Braun T.; Pennell D.J.; Gould I.; Barton P.J.R.; Lara-Pezzi E.; Schafer S.; Huebner N.; Felkin L.E.; O'Regan D.P.; Petretto E.; Brand T.; Milting H.; Nuernberg P.; Schneider M.D.; Prasad S.; Knoell R.
ZBTB17 (MIZ1) is important for the cardiac stress response and a novel candidate gene for cardiomyopathy and heart failure
Circulation Cardiovascular Genetics 8 (5): 643-652 (2015-10)



Cano E.; Carmona R.; Velecela V.; Martinez-Estrada O.; Munoz-Chapuli R.
The proepicardium keeps a potential for glomerular marker expression which supports its evolutionary origin from the pronephros
Evolution & Development 17 (4): 224-230 (2015-07)



Perrot A.; Schmitt K.R.; Roth E.M.; Stiller B.; Posch M.G.; Browne E.N.L.; Timmann C.; Horstmann R.D.; Berger F.; Ozcelik C.
CCN1 mutation is associated with atrial septal defect
Pediatric Cardiology 36 (2): 295-299 (2015-02)



Posch M.G.; Schmidt G.; Steinhoff L.; Perrot A.; Drews T.; Dandel M.; Krabatsch T.; Hetzer R.; Potapov E.V.
A promoter polymorphism -945C>G in the connective tissue growth factor in heart failure patients with mechanical circulatory support: a new marker for bridge to recovery?
European Journal of Cardio-Thoracic Surgery 47 (1): e29-e33 (2015)



2014

Grunert M.; Dorn C.; Schueler M.; Dunkel I.; Schlesinger J.; Mebus S.; Alexi-Meskishvili V.; Perrot A.; Wassilew K.; Timmermann B.; Hetzer R.; Berger F.; Sperling S.R.
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot
Human Molecular Genetics 23 (12): 3115-3128 (2014-06-15)



Bansal V.; Dorn C.; Grunert M.; Klaassen S.; Hetzer R.; Berger F.; Sperling S.R.
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot
PLoS ONE 9 (1): e85375 (2014-01-06)



Dorn C.; Grunert M.; Sperling S.R.
Application of high-throughput sequencing for studying genomic variations in congenital heart disease
Briefings in Functional Genomics 13 (1): 51-65 (2014-01)



2013

Wutzler A.; Kestler C.; Perrot A.; Loehr L.; Huemer M.; Parwani A.S.; Attanasio P.; Ozcelik C.; Schunck W.H.; Gollasch M.; Haverkamp W.; Boldt L.H.
Variations in the human soluble epoxide hydrolase gene and recurrence of atrial fibrillation after catheter ablation
International Journal of Cardiology 168 (4): 3647-3651 (2013-10-09)



Roncarati R.; Viviani Anselmi C.; Krawitz P.; Lattanzi G.; von Kodolitsch Y.; Perrot A.; di Pasquale E.; Papa L.; Portararo P.; Columbaro M.; Forni A.; Faggian G.; Condorelli G.; Robinson P.N.
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
European Journal of Human Genetics 21 (10): 1105-1111 (2013-10)



van Rijsingen I.A.W.; Nannenberg E.A.; Arbustini E.; Elliott P.M.; Mogensen J.; Hermans-van Ast J.F.; van der Kooi A.J.; van Tintelen J.P.; van den Berg M.P.; Grasso M.; Serio A.; Jenkins S.; Rowland C.; Richard P.; Wilde A.A.M.; Perrot A.; Pankuweit S.; Zwinderman A.H.; Charron P.; Christiaans I.; Pinto Y.M.
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
European Journal of Heart Failure 15 (4): 376-384 (2013-04)



van Engelen K.; Postma A.V.; van de Meerakker J.B.A.; Roos-Hesselink J.W.; Helderman-van den Enden A.T.J.M.; Vliegen H.W.; Rahman T.; Baars M.J.H.; Sels J.W.; Bauer U.; Pickardt T.; Sperling S.R.; Moorman A.F.M.; Keavney B.; Goodship J.; Klaassen S.; Mulder B.J.
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7
Netherlands Heart Journal 21 (3): 113-117 (2013-03)



Meyer T.; Ruppert V.; Ackermann S.; Richter A.; Perrot A.; Sperling S.R.; Posch M.G.; Maisch B.; Pankuweit S.
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy
European Journal of Human Genetics 21 (3): 294-300 (2013-03)



2012

Schueler M.; Zhang Q.; Schlesinger J.; Toenjes M.; Sperling S.R.
Dynamics of Srf, p300 and histone modifications during cardiac maturation in mouse
Molecular BioSystems 8 (2): 495-503 (2012-02)



van Rijsingen I.A.W.; Arbustini E.; Elliott P.M.; Mogensen J.; Hermans-van Ast J.F.; van der Kooi A.J.; van Tintelen J.P.; van den Berg M.P.; Pilotto A.; Pasotti M.; Jenkins S.; Rowland C.; Aslam U.; Wilde A.A.M.; Perrot A.; Pankuweit S.; Zwinderman A.H.; Charron P.; Pinto Y.M.
Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers a European cohort study
Journal of the American College of Cardiology 59 (5): 493-500 (2012-01-31)



2011

Posch M.G.; Waldmuller S.; Mueller M.; Scheffold T.; Fournier D.; Andrade-Navarro M.A.; De Geeter B.; Guillaumont S.; Dauphin C.; Yousseff D.; Schmitt K.R.; Perrot A.; Berger F.; Hetzer R.; Bouvagnet P.; Ozcelik C.
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects
PLoS ONE 6 (12): e28872 (2011-12-14)



Tripathi S.; Schultz I.; Becker E.; Montag J.; Borchert B.; Francino A.; Navarro-Lopez F.; Perrot A.; Oezcelik C.; Osterziel K.J.; McKenna W.J.; Brenner B.; Kraft T.
Unequal allelic expression of wild-type and mutated beta-myosin in familial hypertrophic cardiomyopathy
Basic Research in Cardiology 106 (6): 1041-1055 (2011-11)



Sperling S.R.
Systems biology approaches to heart development and congenital heart disease
Cardiovascular Research 91 (2): 269-278 (2011-07-15)



Postma A.V.; van Engelen K.; van de Meerakker J.; Rahman T.; Probst S.; Baars M.J.; Bauer U.; Pickardt T.; Sperling S.R.; Berger F.; Moorman A.F.; Mulder B.J.; Thierfelder L.; Keavney B.; Goodship J.; Klaassen S.
Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly
Circulation Cardiovascular Genetics 4 (1): 43-50 (2011-02)



Schlesinger J.; Schueler M.; Grunert M.; Fischer J.J.; Zhang Q.; Krueger T.; Lange M.; Toenjes M.; Dunkel I.; Sperling S.R.
The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs
PLoS Genetics 7 (2): e1001313 (2011-02)



2010

Chung H.R.; Dunkel I.; Heise F.; Linke C.; Krobitsch S.; Ehrenhofer-Murray A.E.; Sperling S.R.; Vingron M.
The effect of micrococcal nuclease digestion on nucleosome positioning data
PLoS ONE 5 (12): e15754 (2010-12-29)



Juerchott K.; Kuban R.J.; Krech T.; Bluethgen N.; Stein U.; Walther W.; Friese C.; Kielbasa S.M.; Ungethuem U.; Lund P.; Knoesel T.; Kemmner W.; Morkel M.; Fritzmann J.; Schlag P.M.; Birchmeier W.; Krueger T.; Sperling S.; Sers C.; Royer H.D.; Herzel H.; Schaefer R.
Identification of Y-box binding protein 1 as a core regulator of MEK/ERK pathway-dependent gene signatures in colorectal cancer cells
PLoS Genetics 6 (12): e1001231 (2010-12-02)



Schlesinger J.; Toenjes M.; Schueler M.; Zhang Q.; Dunkel I.; Sperling S.R.
Evaluation of the LightCycler 1536 Instrument for high-throughput quantitative real-time PCR
Methods 50 (4): S19-S22 (2010-04)



Emde A.K.; Grunert M.; Weese D.; Reinert K.; Sperling S.R.
MicroRazerS: rapid alignment of small RNA reads
Bioinformatics 26 (1): 123-124 (2010-01-01)



2008

Lange M.; Kaynak B.; Foerster U.B.; Toenjes M.; Fischer J.J.; Grimm C.; Schlesinger J.; Just S.; Dunkel I.; Krueger T.; Mebus S.; Lehrach H.; Lurz R.; Gobom J.; Rottbauer W.; Abdelilah-Seyfried S.; Sperling S.
Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex
Genes & Development 22 (17): 2370-2384 (2008-09-01)



Toenjes M.; Schueler M.; Hammer S.; Pape U.J.; Fischer J.J.; Berger F.; Vingron M.; Sperling S.
Prediction of cardiac transcription networks based on molecular data and complex clinical phenotypes
Molecular BioSystems 4 (6): 589-598 (2008-06)



Yang D.; Zhang J.; Chen C.; Xie M.; Sperling S.; Fang F.; Chen B.; Li X.; Zhang H.
BMPR IA downstream genes related to VSD
Pediatric Research 63 (6): 602-606 (2008-06)



Hammer S.; Toenjes M.; Lange M.; Fischer J.J.; Dunkel I.; Mebus S.; Grimm C.H.; Hetzer R.; Berger F.; Sperling S.
Characterization of TBX20 in human hearts and its regulation by TFAP2
Journal of Cellular Biochemistry 104 (3): 1022-1033 (2008-06-01)



Fischer J.J.; Toedling J.; Krueger T.; Schueler M.; Huber W.; Sperling S.
Combinatorial effects of four histone modifications in transcription and differentiation
Genomics 91 (1): 41-51 (2008-01)



2007

Sperling S.
Transcriptional regulation at a glance
BMC Bioinformatics 8 (Suppl 6): S2 (2007-09-27)



Toedling J.; Skylar O.; Krueger T.; Fischer J.J.; Sperling S.; Huber W.
Ringo--an R/Bioconductor package for analyzing ChIP-chip readouts
BMC Bioinformatics 8: 221 (2007-06-26)



Purmann A.; Toedling J.; Schueler M.; Carninci P.; Lehrach H.; Hayashizaki Y.; Huber W.; Sperling S.
Genomic organization of transcriptomes in mammals: Coregulation and cofunctionality
Genomics 89 (5): 580-587 (2007-05)



2006

Sperling S.
Array analysis applied to malformed hearts: Molecular dissection of tetralogy of Fallot
Methods in Molecular Medicine 1 (126): 233-246 (2006)



Pape U.J.; Grossmann S.; Hammer S.; Sperling S.; Vingron M.
A new statistical model to select target sequences bound by transcription factors
Genome Informatics 17 (1): 134-140 (2006)



2005

Sperling S.; Grimm C.H.; Dunkel I.; Mebus S.; Sperling H.P.; Ebner A.; Galli R.; Lehrach H.; Fusch C.; Berger F.; Hammer S.
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects
Human Mutation 26 (6): 575-582 (2005-12)



Westhoff T.H.; Scheid S.; Toelle M.; Kaynak B.; Schmidt S.; Zidek W.; Sperling S.; van der Giet M.
A physiogenomic approach to study the regulation of blood pressure
Physiological Genomics 23 (1): 46-53 (2005-09-21)



Vogel J.H.; von Heydebreck A.; Purmann A.; Sperling S.
Chromosomal clustering of a human transcriptome reveals regulatory background
BMC Bioinformatics 6: 230 (2005-09-19)



Carninci P.; Kasukawa T.; Katayama S.; Gough J.; Frith M.C.; Maeda N.; Oyama R.; Ravasi T.; Lenhard B.; Wells C.; Kodzius R.; Shimokawa K.; Bajic V.B.; Brenner S.E.; Batalov S.; Forrest A.R.R.; Zavolan M.; Davis M.J.; Wilming L.G.; Aidinis V.; Allen J.E.; Ambesi-Impiombato A.; Apweiler R.; Aturaliya R.N.; Bailey T.L.; Bansal M.; Baxter L.; Beisel K.W.; Bersano T.; Bono H.; Chalk A.M.; Chiu K.P.; Choudhary V.; Christoffels A.; Clutterbuck D.R.; Crowe M.L.; Dalla E.; Dalrymple B.P.; de Bono B.; Della Gatta G.; di Bernardo D.; Down T.; Engstrom P.; Fagiolini M.; Faulkner G.; Fletcher C.F.; Fukushima T.; Furuno M.; Futaki S.; Gariboldi M.; Georgii-Hemming P.; Gingeras G.R.; Gojobori T.; Green R.E.; Gustincich S.; Harbers M.; Hayashi Y.; Hensch T.K.; Hirokawa N.; Hill D.; Huminiecki L.; Iacono I.; Ikeo K.; Iwama A.; Ishikawa T.; Jakt M.; Kanapin A.; Katoh M.; Kawasawa Y.; Kelso J.; Kitamura H.; Kitano H.; Kollias G.; Krishnan S.P.T.; Kruger A.; Kummerfeld S.K.; Kurochkin I.V.; Lareau L.F.; Lazarevic D.; Lipovich L.; Liu J.; Liuni S.; McWilliam S.; Madan Babu M.; Madera M.; Marchionni L.; Matsuda H.; Matsuzawa S.; Miki H.; Mignone F.; Miyake S.; Morris K.; Mottagui-Tabar S.; Mulder N.; Nakano N.; Nakauchi H.; Ng P.; Nilsson R.; Nishiguchi S.; Nishikawa S.; Nori F.; Ohara O.; Okazaki Y.; Orlando V.; Pang K.C.; Pavan W.J.; Pavesi G.; Pesole G.; Petrovsky N.; Piazza S.; Reed J.; Reid J.F.; Ring B.Z.; Ringwald M.; Rost B.; Ruan Y.; Salzberg S.L.; Sandelin A.; Schneider C.; Schönbach C.; Sekiguchi S.; Semple C.A.M.; Seno S.; Sessa L.; Sheng Y.; Shibata Y.; Shimada H.; Shimada K.; Silva D.; Sinclair B.; Sperling S.; Stupka E.; Sugiura S.; Sultana R.; Takenaka Y.; Taki K.; Tammoja K.; Tan S.L.; Tang S.; Taylor M.S.; Tegner J.; Teichmann S.A.; Ueda H.R.; van Nimwegen E.; Verardo R.; Wei C.L.; Yagi K.; Yamanishi H.; Zabarovsky E.; Zhu S.; Zimmer A.; Hide W.; Bult C.; Grimmond S.M.; Teasdale R.D.; Liu E.T.; Brusic V.; Quackenbush J.; Wahlestedt C.; Mattick J.S.; Hume D.A.; Kai C.; Sasaki D.; Tomaru Y.; Fukuda S.; Kanamori-Katayama M.; Suzuki M.; Aoki J.; Arakawa T.; Iida J.; Imamura K.; Itoh M.; Kato T.; Kawaji H.; Kawagashira N.; Kawashima T.; Kojima M.; Kondo S.; Konno H.; Nakano K.; Ninomiya N.; Nishio T.; Okada M.; Plessy C.; Shibata K.; Shiraki T.; Suzuki S.; Tagami M.; Waki K.; Watahiki A.; Okamura-Oho Y.; Suzuki H.; Kawai J.; Hayashizaki Y.
The transcriptional landscape of the mammalian genome
Science 309 (5740): 1559-1563 (2005-09-02)



Sperling S.
From single cells to whole organisms
Genome Biology 6 (13): 365 (2005)



2004

Seelow D.; Galli R.; Mebus S.; Sperling H.P.; Lehrach H.; Sperling S.
d-matrix - database exploration, visualization and analysis
BMC Bioinformatics 5: 168 (2004-10-28)



Rickert A.M.; Lehrach H.; Sperling S.
Multiplexed real-time PCR using universal reporters
Clinical Chemistry 50 (9): 1680-1683 (2004-09)



Rickert A.M.; Borodina T.A.; Kuhn E.J.; Lehrach H.; Sperling S.
Refinement of single-nucleotide polymorphism genotyping methods on human genomic DNA: amplifluor allele-specific polymerase chain reaction versus ligation detection reaction-TaqMan
Analytical Biochemistry 330 (2): 288-297 (2004-07-15)



2003

Kaynak B.; von Heydebreck A.; Mebus S.; Seelow D.; Hennig S.; Vogel J.; Sperling H.P.; Pregla R.; Alexi-Meskishvili V.; Hetzer R.; Lange P.E.; Vingron M.; Lehrach H.; Sperling S.
Genome-wide array analysis of normal and malformed human hearts
Circulation 107 (19): 2467-2474 (2003-05-20)



2001

Handschug K.; Sperling S.; Yoon S.J.; Hennig S.; Clark A.J.; Huebner A.
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
Human Molecular Genetics 10 (3): 283-290 (2001-02-01)