M Zenker

Affiliations

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Publications (63)

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

American journal of medical genetics. Part A

Avec: Ozlem Akgun-Dogan , Pelin O Simsek-Kiper , Ekim Taskiran , Christina Lissewski , Julia Brinkmann , Denny Schanze , Rahşan Göçmen , Deniz Cagdas , Yelda Bilginer , Gülen E Utine , Martin Zenker , Seza Ozen , İlhan Tezcan , Mehmet Alikasifoglu , Koray Boduroğlu

Identifying facial phenotypes of genetic disorders using deep learning.

Nature medicine

Avec: Yaron Gurovich , Yair Hanani , Omri Bar , Guy Nadav , Nicole Fleischer , Dekel Gelbman , Lina Basel-Salmon , Peter M Krawitz , Susanne B Kamphausen , Martin Zenker , Lynne M Bird , Karen W Gripp

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

American journal of medical genetics. Part A

Avec: Karen W Gripp , Lisa Schill , Lisa Schoyer , Beth Stronach , Anton M Bennett , Susan Blaser , Amanda Brown , Rebecca Burdine , Emma Burkitt-Wright , Pau Castel , Sandra Darilek , Alwyn Dias , Tuesdi Dyer , Michelle Ellis , Gregg Erickson , Bruce D Gelb , Tamar Green , Andrea Gross , Alan Ho , James Lloyd Holder , Shin-Ichi Inoue , Angie C Jelin , Annie Kennedy , Richard Klein , Maria I Kontaridis , Pilar Magoulas , Darryl B McConnell , Frank McCormick , Benjamin G Neel , Carlos E Prada , Katherine A Rauen , Amy Roberts , Pablo Rodriguez-Viciana , Neal Rosen , Gavin Rumbaugh , Anna Sablina , Maja Solman , Marco Tartaglia , Angelica Thomas , William C Timmer , Kartik Venkatachalam , Karin S Walsh , Pamela L Wolters , Jae-Sung Yi , Martin Zenker , Nancy Ratner

Relationship Between Skin Shame, Psychological Distress and Quality of Life in Patients with Psoriasis: a Pilot Study.

Acta dermato-venereologica

Avec: Donja Homayoon , Michaela Hiebler-Ragger , Moritz Zenker , Wolfgang Weger , Human Unterrainer , Elisabeth Aberer

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

Orphanet journal of rare diseases

Avec: Thomas Eggermann , Miriam Elbracht , Ingo Kurth , Anders Juul , Trine Holm Johannsen , Irène Netchine , George Mastorakos , Gudmundur Johannsson , Thomas J Musholt , Martin Zenker , Dirk Prawitt , Alberto M Pereira , Olaf Hiort , Auteur inconnu

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.

American journal of medical genetics. Part A

Avec: Vanessa Franziska Schmidt , Ilse Wieland , Walter A Wohlgemuth , Jens Ricke , Moritz Wildgruber , Martin Zenker

Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.

Gene expression patterns : GEP

Avec: Ernestine Treimer , Kathrin Niedermayer , Sven Schumann , Martin Zenker , Michael J Schmeisser , Susanne J Kühl

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.

Frontiers in endocrinology

Avec: Lea Maria Merz , Florian Buerger , Niels Ziegelasch , Martin Zenker , Ilse Wieland , Tobias Lipek , Tillmann Wallborn , Nicolas Terliesner , Freerk Prenzel , Manuela Siekmeyer , Katalin Dittrich

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.

Angiogenesis

Avec: Friedrich G Kapp , Farhad Bazgir , Nagi Mahammadzade , Mehrnaz Mehrabipour , Erik Vassella , Sarah M Bernhard , Yvonne Döring , Annegret Holm , Axel Karow , Caroline Seebauer , Natascha Platz Batista da Silva , Walter A Wohlgemuth , Aviv Oppenheimer , Pia Kröning , Charlotte M Niemeyer , Denny Schanze , Martin Zenker , Whitney Eng , Mohammad R Ahmadian , Iris Baumgartner , Jochen Rössler

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.

European journal of medical genetics

Avec: Luz Consuelo Zepeda-Romero , Martin Zenker , Denny Schanze , Ina Schanze , Christian Peña-Padilla , Claudia Angélica Quezada-Salazar , Paulina Araceli Pacheco-Torres , María Luisa Rivera-Montellano , Rafael Luis Aguirre-Guillén , Lucina Bobadilla-Morales , Alfredo Corona-Rivera , Jorge Román Corona-Rivera

Clinical overview on RASopathies.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Martin Zenker

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.

Frontiers in endocrinology

Avec: Ilse Wieland , Ina Schanze , Ina Marianti Felgendreher , Winfried Barthlen , Silke Vogelgesang , Klaus Mohnike , Martin Zenker

Improvement of synaptic plasticity and cognitive function in RASopathies-a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS).

Trials

Avec: Nikolai H Jung , Silvia Egert-Schwender , Beate Schossow , Victoria Kehl , Ute Wahlländer , Louisa Brich , Viktoria Janke , Christiane Blankenstein , Martin Zenker , Volker Mall

Bifidobacteria shape antimicrobial T-helper cell responses during infancy and adulthood.

Nature communications

Avec: Katrin Vogel , Aditya Arra , Holger Lingel , Dirk Bretschneider , Florian Prätsch , Denny Schanze , Martin Zenker , Silke Balk , Dunja Bruder , Robert Geffers , Thomas Hachenberg , Christoph Arens , Monika C Brunner-Weinzierl

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

British journal of haematology

Avec: Senthilkumar Ramamoorthy , Dirk Lebrecht , Denny Schanze , Ina Schanze , Ilse Wieland , Geoffroy Andrieux , Patrick Metzger , Maria Hess , Michael H Albert , Arndt Borkhardt , Dorine Bresters , Jochen Buechner , Albert Catala , Valerie De Haas , Michael Dworzak , Miriam Erlacher , Henrik Hasle , Kirsi Jahnukainen , Franco Locatelli , Riccardo Masetti , Jan Stary , Dominik Turkiewicz , Luca Vinci , Marcin W Wlodarski , Ayami Yoshimi , Melanie Boerries , Charlotte M Niemeyer , Martin Zenker , Christian Flotho

Transactivation of Met signaling by oncogenic Gnaq drives the evolution of melanoma in Hgf-Cdk4 mice.

Cancer gene therapy

Avec: Miriam Mengoni , Andreas Dominik Braun , Sahithi Seedarala , Susanne Bonifatius , Evi Kostenis , Denny Schanze , Martin Zenker , Thomas Tüting , Evelyn Gaffal

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.

Anticancer research

Avec: Reinhard E Friedrich , Christian Hagel , Felix K Kohlrusch , Ina Schanze , Ilse Wieland , Martin Zenker

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

American journal of medical genetics. Part A

Avec: Alina T Midro , Beata Stasiewicz-Jarocka , Jan Borys , Ewa Hubert , Bożena Skotnicka , Elżbieta Hassmann-Poznańska , Teresa Sierpińska , Barbara Panasiuk , Denny Schanze , Martin Zenker

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Human molecular genetics

Avec: Marialetizia Motta , Lena Sagi-Dain , Oliver H F Krumbach , Andreas Hahn , Amir Peleg , Alina German , Christina Lissewski , Simona Coppola , Francesca Pantaleoni , Luisa Kocherscheid , Franziska Altmüller , Denny Schanze , Thushiha Logeswaran , Soheyla Chahrokh-Zadeh , Anna Munzig , Saeideh Nakhaei-Rad , Hélène Cavé , Mohammad R Ahmadian , Marco Tartaglia , Martin Zenker

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

European journal of medical genetics

Avec: Abdullah Sezer , Gulsum Kayhan , Martin Zenker , Emriye Ferda Percin

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik Niks , Floor Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Human molecular genetics

Avec: Marialetizia Motta , Miray Fidan , Emanuele Bellacchio , Francesca Pantaleoni , Konstantin Schneider-Heieck , Simona Coppola , Guntram Borck , Leonardo Salviati , Martin Zenker , Ion C Cirstea , Marco Tartaglia

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.

European journal of medical genetics

Avec: Cordula M Wolf , Martin Zenker , Emma Burkitt-Wright , Thomas Edouard , Sixto García-Miñaúr , Jan Lebl , Guftar Shaikh , Marco Tartaglia , Alain Verloes , Ingegerd Östman-Smith

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

European journal of human genetics : EJHG

Avec: Julia Brinkmann , Christina Lissewski , Valentina Pinna , Yoann Vial , Francesca Pantaleoni , Francesca Lepri , Paola Daniele , Birute Burnyte , Goran Cuturilo , Christine Fauth , Alper Gezdirici , Dieter Kotzot , Elif Yılmaz Güleç , Violeta Iotova , Denny Schanze , Francis Ramond , Markéta Havlovicová , Gulen Eda Utine , Pelin Ozlem Simsek-Kiper , Milena Stoyanova , Alain Verloes , Alessandro De Luca , Marco Tartaglia , Hélène Cavé , Martin Zenker

Mutations in

Journal of the American Society of Nephrology : JASN

Avec: Nina Mann , Slim Mzoughi , Ronen Schneider , Susanne J Kühl , Denny Schanze , Verena Klämbt , Svjetlana Lovric , Youying Mao , Shasha Shi , Weizhen Tan , Michael Kühl , Ana C Onuchic-Whitford , Ernestine Treimer , Thomas M Kitzler , Franziska Kause , Sven Schumann , Makiko Nakayama , Florian Buerger , Shirlee Shril , Amelie T van der Ven , Amar J Majmundar , Kristina Marie Holton , Amy Kolb , Daniela A Braun , Jia Rao , Tilman Jobst-Schwan , Eva Mildenberger , Thomas Lennert , Alma Kuechler , Dagmar Wieczorek , Oliver Gross , Beate Ermisch-Omran , Anja Werberger , Martin Skalej , Andreas R Janecke , Neveen A Soliman , Shrikant M Mane , Richard P Lifton , Jan Kadlec , Ernesto Guccione , Michael J Schmeisser , Martin Zenker , Friedhelm Hildebrandt

Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using Biomarkers.

Alcoholism, clinical and experimental research

Avec: Jakob Adler , Anke Rissmann , Siegfried Kropf , Klaus Mohnicke , Elina Taneva , Thomas Ansorge , Martin Zenker , Thomas Wex

KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice.

JCI insight

Avec: Jasmine C Wong , Pedro A Perez-Mancera , Tannie Q Huang , Jangkyung Kim , Joaquim Grego-Bessa , Maria Del Pilar Alzamora , Scott C Kogan , Amnon Sharir , Susan H Keefe , Carolina E Morales , Denny Schanze , Pau Castel , Kentaro Hirose , Guo N Huang , Martin Zenker , Dean Sheppard , Ophir D Klein , David A Tuveson , Benjamin S Braun , Kevin Shannon

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elizabeth I Pierpont , Daniel L Kenney-Jung , Ryan Shanley , Abigail L Zatkalik , Ashley E Whitmarsh , Samuel J Kroening , Amy E Roberts , Martin Zenker

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Human molecular genetics

Avec: Marialetizia Motta , Maja Solman , Adeline A Bonnard , Alma Kuechler , Francesca Pantaleoni , Manuela Priolo , Balasubramanian Chandramouli , Simona Coppola , Simone Pizzi , Erika Zara , Marco Ferilli , Hülya Kayserili , Roberta Onesimo , Chiara Leoni , Julia Brinkmann , Yoann Vial , Susanne B Kamphausen , Cécile Thomas-Teinturier , Anne Guimier , Viviana Cordeddu , Laura Mazzanti , Giuseppe Zampino , Giovanni Chillemi , Martin Zenker , Hélène Cavé , Jeroen den Hertog , Marco Tartaglia

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

American journal of medical genetics. Part A

Avec: Dilek Uludağ Alkaya , Christina Lissewski , Gözde Yeşil , Martin Zenker , Beyhan Tüysüz

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Human molecular genetics

Avec: Lorenz M Bell , Annegret Holm , Uta Matysiak , Wolfgang Driever , Jochen Rößler , Denny Schanze , Ilse Wieland , Charlotte M Niemeyer , Martin Zenker , Friedrich G Kapp

Profiling of the Bacterial Microbiota along the Murine Alimentary Tract.

International journal of molecular sciences

Avec: Ramiro Vilchez-Vargas , Franz Salm , Eva B Znalesniak , Katharina Haupenthal , Denny Schanze , Martin Zenker , Alexander Link , Werner Hoffmann

T cell-specific constitutive active SHP2 enhances T cell memory formation and reduces T cell activation.

Frontiers in immunology

Avec: Clemens Cammann , Nicole Israel , Sarah Frentzel , Andreas Jeron , Eylin Topfstedt , Thomas Schüler , Luca Simeoni , Martin Zenker , Hans Joerg Fehling , Burkhart Schraven , Dunja Bruder , Ulrike Seifert

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

Human mutation

Avec: Nina Bögershausen , Hannah E Krawczyk , Rami A Jamra , Sheng-Jia Lin , Gökhan Yigit , Irina Hüning , Anna M Polo , Barbara Vona , Kevin Huang , Julia Schmidt , Janine Altmüller , Johannes Luppe , Konrad Platzer , Beate B Dörgeloh , Andreas Busche , Saskia Biskup , Marisa I Mendes , Desiree E C Smith , Gajja S Salomons , Arne Zibat , Eva Bültmann , Peter Nürnberg , Malte Spielmann , Johannes R Lemke , Yun Li , Martin Zenker , Gaurav K Varshney , Hauke S Hillen , Christian P Kratz , Bernd Wollnik

Polymer Hybrid Nanocomposites Based on Homo and Copolymer Xlpe Containing Mineral Nanofillers with Improved Functional Properties Intended for Insulation of Submarine Cables.

Polymers

Avec: Leszek Resner , Pawel Lesiak , Iman Taraghi , Agnieszka Kochmanska , Pawel Figiel , Elzbieta Piesowicz , Marek Zenker , Sandra Paszkiewicz

Unusual Findings in a Patient With Carney Complex due to a Novel

Anticancer research

Avec: Reinhard E Friedrich , Martin Zenker

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Daniel L Kenney-Jung , Dante J Rogers , Samuel J Kroening , Abigail L Zatkalik , Ashley E Whitmarsh , Amy E Roberts , Martin Zenker , Maria Luigia Gambardella , Ilaria Contaldo , Chiara Leoni , Roberta Onesimo , Giuseppe Zampino , Marco Tartaglia , Domenica I Battaglia , Elizabeth I Pierpont

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Orphanet journal of rare diseases

Avec: Nicole Revencu , Astrid Eijkelenboom , Claire Bracquemart , Pia Alhopuro , Judith Armstrong , Eulalia Baselga , Claudia Cesario , Maria Lisa Dentici , Melanie Eyries , Sofia Frisk , Helena Gásdal Karstensen , Nagore Gene-Olaciregui , Sirpa Kivirikko , Cinzia Lavarino , Inger-Lise Mero , Rodolphe Michiels , Elisa Pisaneschi , Bitten Schönewolf-Greulich , Ilse Wieland , Martin Zenker , Miikka Vikkula

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

European journal of human genetics : EJHG

Avec: Maria Lisa Dentici , Marcello Niceta , Francesca Romana Lepri , Cecilia Mancini , Manuela Priolo , Adeline Alice Bonnard , Camilla Cappelletti , Chiara Leoni , Andrea Ciolfi , Simone Pizzi , Viviana Cordeddu , Cesare Rossi , Marco Ferilli , Mafalda Mucciolo , Vito Luigi Colona , Christine Fauth , Melissa Bellini , Giacomo Biasucci , Lorenzo Sinibaldi , Silvana Briuglia , Andrea Gazzin , Diana Carli , Luigi Memo , Eva Trevisson , Concetta Schiavariello , Maria Luca , Antonio Novelli , Caroline Michot , Anne Sweertvaegher , David Germanaud , Emanuela Scarano , Alessandro De Luca , Giuseppe Zampino , Martin Zenker , Alessandro Mussa , Bruno Dallapiccola , Helene Cavé , Maria Cristina Digilio , Marco Tartaglia

Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.

Journal of the American Heart Association

Avec: Vanessa F Schmidt , Friedrich G Kapp , Constantin Goldann , Linda Huthmann , Beatrix Cucuruz , Richard Brill , Veronika Vielsmeier , Caroline T Seebauer , Armin-Johannes Michel , Max Seidensticker , Wibke Uller , Jakob B W Weiß , Alena Sint , Beate Häberle , Julia Haehl , Alexandra Wagner , Johanna Cordes , Annegret Holm , Denny Schanze , Jens Ricke , Melanie A Kimm , Walter A Wohlgemuth , Martin Zenker , Moritz Wildgruber , Auteur inconnu

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

European journal of human genetics : EJHG

Avec: Nadine N Hauer , Bernt Popp , Leila Taher , Carina Vogl , Perundurai S Dhandapany , Christian Büttner , Steffen Uebe , Heinrich Sticht , Fulvia Ferrazzi , Arif B Ekici , Alessandro De Luca , Patrizia Klinger , Cornelia Kraus , Christiane Zweier , Antje Wiesener , Rami Abou Jamra , Erdmute Kunstmann , Anita Rauch , Dagmar Wieczorek , Anna-Marie Jung , Tilman R Rohrer , Martin Zenker , Helmuth-Guenther Doerr , André Reis , Christian T Thiel

Correction: The landscape of epilepsy-related GATOR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Sara Baldassari , Fabienne Picard , Nienke E Verbeek , Marjan van Kempen , Eva H Brilstra , Gaetan Lesca , Valerio Conti , Renzo Guerrini , Francesca Bisulli , Laura Licchetta , Tommaso Pippucci , Paolo Tinuper , Edouard Hirsch , Anne de Saint Martin , Jamel Chelly , Gabrielle Rudolf , Mathilde Chipaux , Sarah Ferrand-Sorbets , Georg Dorfmüller , Sanjay Sisodiya , Simona Balestrini , Natasha Schoeler , Laura Hernandez-Hernandez , S Krithika , Renske Oegema , Eveline Hagebeuk , Boudewijn Gunning , Charles Deckers , Bianca Berghuis , Ilse Wegner , Erik H Niks , Floor E Jansen , Kees Braun , Daniëlle de Jong , Guido Rubboli , Inga Talvik , Valentin Sander , Peter Uldall , Marie-Line Jacquemont , Caroline Nava , Eric Leguern , Sophie Julia , Antonio Gambardella , Giuseppe d'Orsi , Giovanni Crichiutti , Laurence Faivre , Veronique Darmency , Barbora Benova , Pavel Krsek , Arnaud Biraben , Anne-Sophie Lebre , Mélanie Jennesson , Shifteh Sattar , Cécile Marchal , Douglas R NordliJr , Kristin Lindstrom , Pasquale Striano , Lysa Boissé Lomax , Courtney Kiss , Fabrice Bartolomei , Anne Fabienne Lepine , An-Sofie Schoonjans , Katrien Stouffs , Anna Jansen , Eleni Panagiotakaki , Brigitte Ricard-Mousnier , Julien Thevenon , Julitta de Bellescize , Hélène Catenoix , Thomas Dorn , Martin Zenker , Karen Müller-Schlüter , Christian Brandt , Ilona Krey , Tilman Polster , Markus Wolff , Meral Balci , Kevin Rostasy , Guillaume Achaz , Pia Zacher , Thomas Becher , Thomas Cloppenborg , Christopher J Yuskaitis , Sarah Weckhuysen , Annapurna Poduri , Johannes R Lemke , Rikke S Møller , Stéphanie Baulac

Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients.

Nephron

Avec: Christian Albert , Johanna Kube , Annemarie Albert , Denny Schanze , Martin Zenker , Peter R Mertens

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Human mutation

Avec: Fatima Abdelfattah , Ariana Kariminejad , Anne-Karin Kahlert , Patrick J Morrison , Evren Gumus , Katherine D Mathews , Benjamin W Darbro , David J Amor , Maie Walsh , Yves Sznajer , Luisa Weiß , Sabine Weidensee , David Chitayat , Patrick Shannon , Eva Bermejo-Sánchez , Isolina Riaño-Galán , Ian Hayes , Gemma Poke , Caroline Rooryck , Perrine Pennamen , Suonavy Khung-Savatovsky , Annick Toutain , Marie-Laure Vuillaume , Siavash Ghaderi-Sohi , Mohamad H Kariminejad , Sönke Weinert , Heinrich Sticht , Martin Zenker , Denny Schanze

Food-Derived Xeno-microRNAs: Influence of Diet and Detectability in Gastrointestinal Tract-Proof-of-Principle Study.

Molecular nutrition & food research

Avec: Jastin Link , Cosima Thon , Denny Schanze , Ruta Steponaitiene , Juozas Kupcinskas , Martin Zenker , Ali Canbay , Peter Malfertheiner , Alexander Link

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

European journal of medical genetics

Avec: Sixto García-Miñaúr , Emma Burkitt-Wright , Alain Verloes , Guftar Shaikh , Jan Lebl , Ingegerd Östman-Smith , Cordula M Wolf , Eduardo Ortega Castelló , Marco Tartaglia , Martin Zenker , Thomas Edouard

Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.

European journal of medical genetics

Avec: Thomas Edouard , Martin Zenker , Ingegerd Östman-Smith , Eduardo Ortega Castelló , Cordula M Wolf , Emma Burkitt-Wright , Alain Verloes , Sixto García-Miñaúr , Marco Tartaglia , Guftar Shaikh , Jan Lebl

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.

Cancers

Avec: Madlen Reschke , Eva Biewald , Leo Bronstein , Ines B Brecht , Sabine Dittner-Moormann , Frank Driever , Martin Ebinger , Gudrun Fleischhack , Desiree Grabow , Dirk Geismar , Sophia Göricke , Maja Guberina , Claudia H D Le Guin , Tobias Kiefer , Christian P Kratz , Klaus Metz , Bert Müller , Tatsiana Ryl , Marc Schlamann , Sabrina Schlüter , Stefan Schönberger , Johannes H Schulte , Selma Sirin , Daniela Süsskind , Beate Timmermann , Saskia Ting , Werner Wackernagel , Regina Wieland , Martin Zenker , Michael Zeschnigk , Dirk Reinhardt , Angelika Eggert , Petra Ritter-Sovinz , Dietmar R Lohmann , Norbert Bornfeld , Nikolaos Bechrakis , Petra Ketteler

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

In vivo (Athens, Greece)

Avec: Reinhard E Friedrich , Jozef Zustin , Andreas M Luebke , Thorsten Rosenbaum , Martin Gosau , Christian Hagel , Felix K Kohlrusch , Ilse Wieland , Martin Zenker

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Clinical dysmorphology

Avec: Angelika J Dawson , Karine Hovanes , Jing Liu , Sandra Marles , Cheryl Greenberg , Aziz Mhanni , Albert Chudley , Patrick Frosk , Trilochan Sahoo , Denny Schanze , Martin Zenker

Aplasia cutis congenita in a CDC42-related developmental phenotype.

American journal of medical genetics. Part A

Avec: Franziska Schnabel , Susanne B Kamphausen , Rudolf Funke , Silke Kaulfuß , Bernd Wollnik , Martin Zenker

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR

Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.

Clinical genetics

Avec: Melanie Föhrenbach , Rami Abou Jamra , Arndt Borkhardt , Triantafyllia Brozou , Petra Muschke , Bernt Popp , Linda K Rey , Jörg Schaper , Harald Surowy , Martin Zenker , Christiane Zweier , Dagmar Wieczorek , Silke Redler

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

European journal of medical genetics

Avec: Claudia Schuart , Andrea Bassi , Friedrich Kapp , Ilse Wieland , Angelica Pagliazzi , Heike Losch , Carlo Mazzatenta , Giacomo M Bacci , Teresa Oranges , Denny Schanze , Klaus Mohnike , Arti Nanda , Judith Fischer , Martin Zenker , Rudolf Happle

Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the

Anticancer research

Avec: Reinhard E Friedrich , Andreas M Luebke , Ulrich Schüller , Christian Hagel , Felix K Kohlrusch , Ilse Wieland , Martin Zenker

[Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

Avec: Tanja Sappok , Christoph Kowalski , Martin Zenker , Florian Weißinger , Andreas W Berger

Quantifying osteosynthesis plate prominence - mathematical definitions and case study on a clavicle plate.

Computer methods in biomechanics and biomedical engineering

Avec: Martin Zenker , Evangelos Theodorou , Daniel Andermatt , Ralf Winkler , Harry A Hoyen , Martin Jaeger , Chunyan Jiang , Simon Lambert , Stefaan Nijs , Arabella D Fontana

Efficacy of Applied Relaxation as indicated preventive intervention in individuals at increased risk for mental disorders: A randomized controlled trial.

Behaviour research and therapy

Avec: Katja Beesdo-Baum , Monique Zenker , Frank Rückert , Hanna Kische , Lars Pieper , Eva Asselmann

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

Clinical immunology (Orlando, Fla.)

Avec: Friedrich G Kapp , Stefanie Kretschmer , Cora C A Beckmann , Lena Wäsch , Anne Molitor , Raphaël Carapito , Mario Schubert , Nadja Lucas , Solène Conrad , Sylvaine Poignant , Bertrand Isidor , Meino Rohlfs , Ayşenur Paç Kisaarslan , Denny Schanze , Martin Zenker , Annette Schmitt-Graeff , Brigitte Strahm , Anke Peters , Ayami Yoshimi , Wolfgang Driever , Thomas Zillinger , Claudia Günther , Shovamayee Maharana , Kaomei Guan , Christoph Klein , Stephan Ehl , Charlotte M Niemeyer , Ekrem Unal , Seiamak Bahram , Fabian Hauck , Min Ae Lee-Kirsch , Carsten Speckmann

Prediction of anastomotic insufficiency based on the mucosal microbiome prior to colorectal surgery: a proof-of-principle study.

Scientific reports

Avec: Konrad Lehr , Undine Gabriele Lange , Noam Mathias Hipler , Ramiro Vilchez-Vargas , Albrecht Hoffmeister , Jürgen Feisthammel , Dorina Buchloh , Denny Schanze , Martin Zenker , Ines Gockel , Alexander Link , Boris Jansen-Winkeln

Differential methylation of OPRK1 in borderline personality disorder is associated with childhood trauma.

Molecular psychiatry

Avec: Dorothee Maria Gescher , Denny Schanze , Peter Vavra , Philip Wolff , Geraldine Zimmer-Bensch , Martin Zenker , Thomas Frodl , Christian Schmahl

Developmental effect of RASopathy mutations on neuronal network activity on a chip.

Frontiers in cellular neuroscience

Avec: Eva-Maria Weiss , Debarpan Guhathakurta , Aneta Petrušková , Verena Hundrup , Martin Zenker , Anna Fejtová

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

American journal of medical genetics. Part A

Avec: Felix Kunz , Hülya Kayserili , Alina Midro , Deepthi de Silva , Sriyani Basnayake , Yeliz Güven , Jan Borys , Denny Schanze , Angelika Stellzig-Eisenhauer , Agnes Bloch-Zupan , Martin Zenker

Réseau de co-auteurs

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Christoph Klein 1 collaboration

Stephan Ehl 1 collaboration

Ekrem Unal 1 collaboration

Seiamak Bahram 1 collaboration

Fabian Hauck 1 collaboration

Min Ae Lee-Kirsch 1 collaboration

Carsten Speckmann 1 collaboration

Konrad Lehr 1 collaboration

Undine Gabriele Lange 1 collaboration

Noam Mathias Hipler 1 collaboration

Albrecht Hoffmeister 1 collaboration

Jürgen Feisthammel 1 collaboration

Dorina Buchloh 1 collaboration

Ines Gockel 1 collaboration

Boris Jansen-Winkeln 1 collaboration

Dorothee Maria Gescher 1 collaboration

Peter Vavra 1 collaboration

Philip Wolff 1 collaboration

Geraldine Zimmer-Bensch 1 collaboration

Thomas Frodl 1 collaboration

Christian Schmahl 1 collaboration

Eva-Maria Weiss 1 collaboration

Debarpan Guhathakurta 1 collaboration

Aneta Petrušková 1 collaboration

Verena Hundrup 1 collaboration

Anna Fejtová 1 collaboration

Felix Kunz 1 collaboration

Alina Midro 1 collaboration

Deepthi de Silva 1 collaboration

Sriyani Basnayake 1 collaboration

Yeliz Güven 1 collaboration

Angelika Stellzig-Eisenhauer 1 collaboration

Agnes Bloch-Zupan 1 collaboration