Author details

Full Name

Petra St??be

Affiliation

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34740919	Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex.	J Med Genet	2023
37438890	Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.	Ear Hear	2023
34505148	De novo missense variants in FBXO11 alter its protein expression and subcellular localization.	Hum Mol Genet	2022
35574990	A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.	Prenat Diagn	2022
34288564	Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.	Mol Genet Genomic Med	2021
34901436	Transcript-Specific Loss-of-Function Variants in <i>VPS16</i> Are Enriched in Patients With Dystonia.	Neurol Genet	2021
30612693	De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.	Am J Hum Genet	2019
28892560	Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.	Ann Neurol	2017
27640355	Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.	J Pediatr	2016
23754958	A genome-wide, fine-scale map of natural pigmentation variation in Drosophila melanogaster.	PLoS Genet	2013
14727741	Biotransformation of atrazine in transgenic tobacco cell culture expressing human P450.	Pest Manag Sci	2004

1 - 11 of 11

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 2

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 3

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 3

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 0

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 3

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 4

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 2

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 2

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 1

Bryn D Webb

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

Career Start Year 2006

Number of shared co-authors 3

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 3

Malte Spielmann

Max Planck Institute for Molecular Genetics

Career Start Year 2005

Number of shared co-authors 4

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 5

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 1

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Career Start Year 2001

Number of shared co-authors 2

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 8

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 7

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 6

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 7

Fuki M Hisama

University of Washington

Career Start Year 1996

Number of shared co-authors 1

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 4

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 5

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 2

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 5

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 5

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 8

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 8

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 7

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 6

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 3

row(s) 1 - 30 of 30

Stephan Ossowski

Institute of Medical Genetics and Applied Genomics, University of Tubingen

Co-authored papers 3

Andreas Dufke

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

Co-authored papers 2

Saskia Biskup

Center for Genomics and Transcriptomics (CeGaT)

Co-authored papers 2

Saeed Mohammad

Vanderbilt Unversity Medical Center

Co-authored papers 1

Sally Ann Lynch

University College Dublin

Co-authored papers 1

Stacey L Edwards

QIMR Berghofer Medical Research Institute

Co-authored papers 1

Reiner Siebert

Co-authored papers 1

Lynne A Wolfe

National Institutes of Health Undiagnosed Diseases Program

Co-authored papers 1

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 1

Susanne Motameny

University of Cologne

Co-authored papers 1

Thorsten Marquardt

University Children's Hospital Munster

Co-authored papers 1

Megan T Cho

Co-authored papers 1

M Wainwright

Seattle Children's Hospital, University of Washington

Co-authored papers 1

Peter F Whitington

Ann and Robert H Lurie Children's Hospital of Chicago

Co-authored papers 1

Tabib Dabir

Belfast City Hospital

Co-authored papers 1

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 1

John A Bernat

University of Iowa Hospitals and Clinics

Co-authored papers 1

Raymond Tobler

University of Adelaide, The Australian National University

Co-authored papers 1

Maximilian Muenke

National Human Genome Research Institute, The National Institutes of Health

Co-authored papers 1

Hector Melin-Aldana

Ann & Robert H. Lurie Children's Hospital of Chicago

Co-authored papers 1

Padmini Malladi

Ann & Robert H. Lurie Children's Hospital of Chicago

Co-authored papers 1

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 1

1 - 22

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