Publications by authors named "Katharina Steindl"

40Publications

Single coronary artery arising from an atretic pulmonary trunk.

Asian Cardiovasc Thorac Ann 2020 Oct 6:218492320963969. Epub 2020 Oct 6.

Department of Congenital Cardiovascular Surgery, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1177/0218492320963969DOI Listing
October 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals and Variants as Most Frequent Causes.

Transl Vis Sci Technol 2020 Jun 30;9(7):47. Epub 2020 Jun 30.

Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/tvst.9.7.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414719PMC
June 2020

Periorbital pigmented skin tags and milia.

Pediatr Dermatol 2020 07;37(4):740-741

Pediatric Skin Center, Department of Dermatology, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1111/pde.14223DOI Listing
July 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Eur J Med Genet 2017 Sep 21;60(9):451-464. Epub 2017 Jun 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.004DOI Listing
September 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

J Inherit Metab Dis 2016 Jan 15;39(1):131-7. Epub 2015 Jul 15.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-015-9876-yDOI Listing
January 2016

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.

Muscle Nerve 2015 Oct 1;52(4):668-73. Epub 2015 Jun 1.

Department of Paediatric Neurology, University Children's Hospital, Steinwiesstrasse 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1002/mus.24687DOI Listing
October 2015

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Hum Mol Genet 2015 Jul 3;24(13):3708-17. Epub 2015 Apr 3.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and.

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http://dx.doi.org/10.1093/hmg/ddv115DOI Listing
July 2015

[Marfan syndrome and related connective tissue disorders].

Praxis (Bern 1994) 2013 Nov;102(24):1483-8

Institut für Medizinische Genetik, Universität Zürich, Schlieren.

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http://dx.doi.org/10.1024/1661-8157/a001496DOI Listing
November 2013

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.

Hum Genet 2006 Feb 2;118(6):760-6. Epub 2005 Dec 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Largo F. Vito 1, 00168, Rome, Italy.

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http://link.springer.com/10.1007/s00439-005-0085-x
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http://dx.doi.org/10.1007/s00439-005-0085-xDOI Listing
February 2006