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1

Identifying facial phenotypes of genetic disorders using deep learning

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

Journal:

Nature Medicine

Year:

2019

Language:

english

File:

PDF, 1.34 MB

english, 2019

2

Measuring success in place marketing and branding

Zenker, Sebastian, Martin, Nicole

Journal:

Place Branding and Public Diplomacy

Year:

2011

Language:

english

File:

PDF, 141 KB

english, 2011

3

Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

Beaufils, Camille, Farlay, Delphine, Machuca-Gayet, Irma, Fassier, Alice, Zenker, Martin, Freychet, Caroline, Bonnelye, Edith, Bertholet-Thomas, Aurélia, Ranchin, Bruno, Bacchetta, Justine

Journal:

Year:

2017

Language:

english

File:

PDF, 963 KB

english, 2017

4

Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children

Smith, Adam J., Lavoie, Geneviève, Walsh, Kyle M., Aujla, Sumeet, Evans, Erica, Hansen, Helen M., Smirnov, Ivan, Kang, Alice Y., Zenker, Martin, Ceremsak, John J., Stieglitz, Elliot, Muskens, Ivo S.,

Journal:

Genes, Chromosomes and Cancer

Year:

2019

Language:

english

File:

PDF, 1.26 MB

english, 2019

5

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

Martin Zenker, Michel Pierson, Philippe Jonveaux, André Reis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

6

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome

Karlheinz Mark, André Reis, Martin Zenker

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 140 KB

english, 2006

7

Variable phenotype of Pierson syndrome

Hyun Jin Choi, Beom Hee Lee, Ju Hyung Kang, Hyoen Joo Jeong, Kyung Chul Moon, Il Soo Ha, Young Suk Yu, Verena Matejas, Martin Zenker, Yong Choi, Hae Il Cheong

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 239 KB

english, 2008

8

Effectiveness of a web-based, individually tailored decision aid for depression or acute low back pain: A randomized controlled trial

Daniela Simon, Levente Kriston, Alessa von Wolff, Angela Buchholz, Christine Vietor, Torsten Hecke, Andreas Loh, Matthias Zenker, Mario Weiss, Martin Härter

Journal:

Patient Education and Counseling

Year:

2012

Language:

english

File:

PDF, 420 KB

english, 2012

9

Genotype-phenotype correlations in Noonan syndrome

Martin Zenker, Gernot Buheitel, Ralf Rauch, Rainer Koenig, Kirstin Bosse, Wolfram Kress, Hans-Ulrich Tietze, Helmuth-Guenther Doerr, Michael Hofbeck, Helmut Singer, André Reis, Anita Rauch

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 391 KB

english, 2004

10

Health and Quality of Life in Adults with Noonan Syndrome

Gerhard Binder, Sabrina Grathwol, Karoline von Loeper, Gunnar Blumenstock, Renate Kaulitz, Clemens Freiberg, Martin Webel, Christina Lissewski, Martin Zenker, Thomas Paul

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 229 KB

english, 2012

11

The use of lysimeter data for the test of two soil-water balance models: A case study

Wegehenkel, Martin, Zhang, Yongqian, Zenker, Thomas, Diestel, Heiko

Journal:

Journal of Plant Nutrition and Soil Science

Year:

2008

Language:

english

File:

PDF, 1022 KB

english, 2008

12

Impaired motor cortex plasticity in patients with Noonan syndrome

Mainberger, Florian, Zenker, Martin, Jung, Nikolai H., Delvendahl, Igor, Brandt, Antonia, Freudenberg, Leonie, Heinen, Florian, Mall, Volker

Journal:

Clinical Neurophysiology

Year:

2013

Language:

english

File:

PDF, 312 KB

english, 2013

13

[IEEE 2008 19th Australian Conference on Software Engineering ASWEC - Perth, Australia (2008.03.26-2008.03.28)] 19th Australian Conference on Software Engineering (aswec 2008) - Software Metrics for Agile Software Development

Kunz, Martin, Dumke, Reiner R., Zenker, Niko

Year:

2008

Language:

english

File:

PDF, 796 KB

english, 2008

14

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranch

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.21 MB

english, 2018

15

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

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

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.88 MB

english, 2018

16

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Lin, Pei-Yi, Tseng, Min-Hua, Zenker, Martin, Rao, Jia, Hildebrandt, Friedhelm, Lin, Shih-Hua, Lin, Chun-Chen, Chang, Jui-Hsing, Hsu, Chyong-Hsin, Lee, Ming-Dar, Lin, Shuan-Pei, Tsai, Jeng-Daw

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 4.06 MB

english, 2018

17

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

Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, IrÃ¨ne, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J., Zenker, Martin, Prawitt, Dirk, P

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 741 KB

2020

18

Cyst-like cerebral lesions in tuberous sclerosis

Hans-Dieter Rott, Beate Lemcke, Martin Zenker, Walter Huk, Jürgen Horst, Karin Mayer

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 315 KB

english, 2002

19

Diagnosis of FS should not be made until PKS is ruled out

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 36 KB

english, 2001

20

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome

Martin Zenker, Tim Tralau, Thomas Lennert, Susanne Pitz, Karlheinz Mark, Henry Madlon, Jörg Dötsch, André Reis, Horst Müntefering, Luitgard M. Neumann

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 378 KB

english, 2004

21

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)

Martin Zenker, Bendicht Wermuth, Udo Trautmann, Ina Knerr, Cornelia Kraus, Anita Rauch, André Reis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

22

Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia

Martin Zenker, Lutz Nährlich, Heinrich Sticht, André Reis, Denise Horn

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 271 KB

english, 2006

23

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian Thiel, Franz Rüschendorf, Peter Nürnberg, André Reis, Udo Traut

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 305 KB

english, 2006

24

Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1

Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, Marcos Fernando Mello, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 314 KB

english, 2007

25

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

Volker O. Melichar, Sabine Guth, Heide Hellebrand, Alfons Meindl, Katharina von der Hardt, Cornelia Kraus, Udo Trautmann, Wolfgang Rascher, Anita Rauch, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

26

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene

Ulrike Hüffmeier, Martin Zenker, Juliane Hoyer, Raimund Fahsold, Anita Rauch

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 204 KB

english, 2006

27

Fraser syndrome due to homozygosity for a splice site mutation of FREM2

Yousef Shafeghati, Andrea Kniepert, Ghazal Vakili, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

28

Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement

Mohammed S. Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, Julia Mayerle, Martin Zenker, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

29

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel, Ilkka Kaitila

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 59 KB

english, 2008

30

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

Mariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, Jaap Ottenkamp, Susanne Bauhuber, Bita Bozorgmehr, Martin Zenker, Jan M. Cobben

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

31

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

Katie M.G. Snape, Deborah Ruddy, Martin Zenker, Wim Wuyts, Margo Whiteford, Diana Johnson, Wayne Lam, Richard C. Trembath

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 227 KB

english, 2009

32

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome

Christian Thiel, Martin Wilken, Martin Zenker, Heinrich Sticht, Raimund Fahsold, Gabriele-Charlotte Gusek-Schneider, Anita Rauch

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 143 KB

english, 2009

33

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

John M. Graham Jr, Nancy Kramer, Bassem A. Bejjani, Christian T. Thiel, Claudio Carta, Giovanni Neri, Marco Tartaglia, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

34

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

Jennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, Annerose Keilmann, Martin Zenker, Reinhard Ullmann, Thomas Haaf, Oliver Bartsch

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

35

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

Verena Matejas, Jutta Muscheites, Marianne Wigger, Hans-Jürgen Kreutzer, Horst Nizze, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 496 KB

english, 2011

36

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Judith E. Allanson, Göran Annerén, Yoki Aoki, Christine M. Armour, Marie-Louise Bondeson, Helene Cave, Karen W. Gripp, Bronwyn Kerr, Anna-Maja Nystrom, Katia Sol-Church, Alain Verloes, Martin Zenker

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2011

Language:

english

File:

PDF, 104 KB

english, 2011

37

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan E. Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana S. Johnson, Lisa Rob

Journal:

Year:

2010

Language:

english

File:

PDF, 612 KB

english, 2010

38

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, Ion C. Cirstea, Christian Peter Kratz, Martin Zenker, Alfred Wittinghofer, Mohammad Reza Ahmadian

Journal:

Year:

2011

Language:

english

File:

PDF, 600 KB

english, 2011

39

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A

Christiane Mühle, Martin Zenker, Nadia Chuzhanova, Holm Schneider

Journal:

Year:

2007

Language:

english

File:

PDF, 369 KB

english, 2007

40

Preparation, 99mTc-labeling and biodistribution studies of a PNA oligomer containing a new ligand derivative of 2,2′-dipicolylamine

Gilles Gasser, Katrin Jäger, Martin Zenker, Ralf Bergmann, Jörg Steinbach, Holger Stephan, Nils Metzler-Nolte

Journal:

Journal of Inorganic Biochemistry

Year:

2010

Language:

english

File:

PDF, 507 KB

english, 2010

41

An unexpected new role of mutant Ras: perturbation of human embryonic development

Christian P. Kratz, Charlotte M. Niemeyer, Martin Zenker

Journal:

Journal of Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 349 KB

english, 2007

42

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

Martin Zenker, Eduardo Machuca, Corinne Antignac

Journal:

Journal of Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

43

NovelUBR1gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome

Gholam Hossein Fallahi, Mozhgan Sabbaghian, Manijeh Khalili, Nima Parvaneh, Martin Zenker, Nima Rezaei

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 159 KB

english, 2011

44

Eponym

Nima Rezaei, Mozhgan Sabbaghian, Zhifeng Liu, Martin Zenker

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 157 KB

english, 2011

45

A milder variant of Pierson syndrome

Mikhail Kagan, Arthur H. Cohen, Verena Matejas, Christopher Vlangos, Martin Zenker

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 262 KB

english, 2008

46

Studies on pre-hump and main fractions of cellulose-2,5-acetate in acetone

Bodo Saake, Martin Zenker, Armin Stein, Jürgen Puls

Journal:

Year:

2006

Language:

english

File:

PDF, 340 KB

english, 2006

47

Arrest of the true culprit and acquittal of the innocent? Genetic revelations charge APOL1 variants with kidney disease susceptibility

Martin Zenker, Peter R. Mertens

Journal:

International Urology and Nephrology

Year:

2010

Language:

english

File:

PDF, 197 KB

english, 2010

48

Treatment of Cardiovascular Implantable Electronic Device Infection with Daptomycin

AHMAD F. JEBRAN, ARON F. POPOV, DIETER ZENKER, CHRISTIAN BIRETA, DIRENDRA RAJARUTHNAM, MARTIN FRIEDRICH, FRIEDRICH A. SCHOENDUBE

Journal:

Pacing and Clinical Electrophysiology

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

49

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Zenker, Martin, Mayerle, Julia, Lerch, Markus M, Tagariello, Andreas, Zerres, Klaus, Durie, Peter R, Beier, Matthias, Hülskamp, Georg, Guzman, Celina, Rehder, Helga

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 47 KB

english, 2006

50

Corrigendum: Germline KRAS mutations cause Noonan syndrome

Schubbert, Suzanne, Zenker, Martin, Rowe, Sara L, Böll, Silke, Klein, Cornelia, Bollag, Gideon, van der Burgt, Ineke, Musante, Luciana, Kalscheuer, Vera, Wehner, Lars-Erik

Journal:

Nature Genetics

Year:

2006

File:

PDF, 45 KB

2006