Author details

Full Name

Johanna Christina Czeschik

Affiliation

Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
33427397	Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.	Am J Med Genet A	2021
27901041	Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.	Eur J Hum Genet	2017
28690487	CantÃº Syndrome Associated with Ovarian Agenesis.	Mol Syndromol	2017
27406249	Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.	Eur J Hum Genet	2016
25138099	Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.	Eur J Hum Genet	2015
26264464	'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.	Hum Genet	2015
25724810	Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.	Hum Genet	2015
25326669	De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.	Hum Genet	2015
24561647	A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.	Clin Dysmorphol	2014
25434003	Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.	Am J Hum Genet	2014
25280750	Clinical interpretation of CNVs with cross-species phenotype data.	J Med Genet	2014
25078397	Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.	Bioinformatics	2014
23307537	Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.	Am J Med Genet A	2013
24053514	X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.	Orphanet J Rare Dis	2013
24120487	160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.	Eur J Med Genet	2013
23879989	Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.	Orphanet J Rare Dis	2013
23906836	A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.	Hum Mol Genet	2013
24028775	Malignant melanoma S3-guideline "diagnosis, therapy and follow-up of melanoma".	J Dtsch Dermatol Ges	2013
23721604	S3-guideline "diagnosis, therapy and follow-up of melanoma" -- short version.	J Dtsch Dermatol Ges	2013
23568615	Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.	Hum Genet	2013
21722310	Nodular scabies: hypersensitivity reaction or infection?	J Dtsch Dermatol Ges	2011
19818386	Sensitization of voltage activated calcium channel currents for capsaicin in nociceptive neurons by tumor-necrosis-factor-alpha.	Brain Res Bull	2010
18314270	TNF-alpha differentially modulates ion channels of nociceptive neurons.	Neurosci Lett	2008

1 - 23 of 23

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 7

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 5

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 3

Marzia Pollazzon

Azienda USL-IRCCS di Reggio Emilia

Career Start Year 2008

Number of shared co-authors 5

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 6

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 3

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 10

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 2

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 8

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 4

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 12

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 9

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 9

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 3

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 4

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 11

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 11

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 3

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 9

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 9

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 14

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 7

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Career Start Year 1990

Number of shared co-authors 6

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 3

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 9

Lihadh Al-Gazali

College of Medicine and Health Sciences, United Arab Emirates University

Career Start Year 1988

Number of shared co-authors 9

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 15

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 15

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 15

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 3

row(s) 1 - 30 of 30

Tim M Strom

Co-authored papers 6

Thomas Wieland

Co-authored papers 5

H??lya Kayserili

Istanbul University

Co-authored papers 3

Dirk Schadendorf

Co-authored papers 3

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Thomas Schwarzmayr

Co-authored papers 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 2

Bernhard Horsthemke

Co-authored papers 2

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Matthew Pastore

Nationwide Children's Hospital, The Ohio State University College of Medicine

Co-authored papers 1

Alessandra Renieri

University of Siena

Co-authored papers 1

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Co-authored papers 1

Melissa A Haendel

Co-authored papers 1

Avner Schlessinger

Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai

Co-authored papers 1

Dietmar R Lohmann

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen

Co-authored papers 1

Laura Mazzanti

Co-authored papers 1

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Co-authored papers 1

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 1

David J Burn

Population Health Sciences Institute, Newcastle University

Co-authored papers 1

Jayne Y Hehir-Kwa

Princess Maxima Center for Pediatric Oncology

Co-authored papers 1

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 1

Sofia Douzgou

Haukeland University Hospital

Co-authored papers 1

Raymond T O'Keefe

University of Manchester

Co-authored papers 1

Joanna S Amberger

Johns Hopkins University School of Medicine

Co-authored papers 1

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit