Author details

Full Name

Ricarda Fl??ttmann

Affiliation

Max Planck Institute for Molecular Genetics

ORCID

Career Start Year

2013

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31320746	Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.	Eur J Hum Genet	2019
29236091	Noncoding copy-number variations are associated with congenital limb malformation.	Genet Med	2018
27604556	A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.	J Hum Genet	2017
29230162	A Novel de novo <i>FZD2</i> Mutation in a Patient with Autosomal Dominant Omodysplasia.	Mol Syndromol	2017
28559208	Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.	Eur J Med Genet	2017
26755636	Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.	Genome Res	2016
27351625	Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.	Am J Med Genet A	2016
26822876	Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.	Am J Med Genet A	2016
26733284	Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.	Eur J Hum Genet	2016
26032025	Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.	J Med Genet	2015
26096994	FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.	Eur J Med Genet	2015
24456159	Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.	Clin Genet	2014
25231166	Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.	Orphanet J Rare Dis	2014
25186178	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.	Sci Transl Med	2014
23564750	Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.	J Med Genet	2013

1 - 15 of 15

Irene Valenzuela

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

Career Start Year 2013

Number of shared co-authors 4

Jair Tenorio

Institute of Medical and Molecular Genetics, Hospital University La Paz

Career Start Year 2012

Number of shared co-authors 4

Morad Ansari

Western General Hospital

Career Start Year 2010

Number of shared co-authors 0

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 4

Anneke T Vulto-van Silfhout

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 7

Marzia Pollazzon

Azienda USL-IRCCS di Reggio Emilia

Career Start Year 2008

Number of shared co-authors 3

Johanna Christina Czeschik

Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen

Career Start Year 2008

Number of shared co-authors 6

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 1

Shalini N Jhangiani

Baylor College 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 3

Claire Beneteau

Hopital Universitaire de Nantes

Career Start Year 2005

Number of shared co-authors 3

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 11

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

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 5

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 13

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 2

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 4

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 4

Andreas Zankl

The University of Sydney

Career Start Year 1997

Number of shared co-authors 10

H??lya Kayserili

Istanbul University

Career Start Year 1996

Number of shared co-authors 11

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 5

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 2

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 7

Bert B A de Vries

Radboud University Medical Center

Career Start Year 1992

Number of shared co-authors 9

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 5

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 9

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 14

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 6

David R FitzPatrick

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

Career Start Year 1984

Number of shared co-authors 8

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Career Start Year 1982

Number of shared co-authors 10

row(s) 1 - 30 of 30

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 13

Malte Spielmann

Max Planck Institute for Molecular Genetics

Co-authored papers 11

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 8

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Co-authored papers 4

Sandra C Doelken

Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin

Co-authored papers 3

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Co-authored papers 3

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Co-authored papers 2

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Bj??rn Fischer-Zirnsak

Max Planck Institute for Molecular Genetics FG Development and Disease

Co-authored papers 2

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 1

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

G??tz Frommer

Max-Planck-Institut fur biophysikalische Chemie

Co-authored papers 1

Amin Ardeshirdavani

STADIUS Center for Dynamical Systems

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Marten J??ger

Charite Universitatsmedizin Berlin