Katharina Steindl - Concepedia

Author

Katharina Steindl

Also Known As

K Steindl, K. Steindl, Katharina Steindl, Katharina steindl, Katsanis, Nicholas, Myriam Srour, Pascal Joset, Sorina M. Papuc, Steindl, K

123

Publications

3.9K

Citations

H-Index

Concepts

All Affiliations

University of Zurich University Children's Hospital Zurich Friedrich-Alexander-Universität Erlangen-Nürnberg ETH Zurich Boston Children's Hospital

About

Katharina Steindl is an author at University of Zurich specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	24	2.1K
2	Social Sciences	5	5	271
3	Public Health	3	3	88
4	Natural Sciences	2	2	67
5	Health Sciences	1	1	53

Katharina Steindl

Publications

3.6K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian Rice, Paul R. Kasher, Gabriella Forte, Nature Genetics Autoimmune DiseaseGenetic DisorderGeneticsPathogenesisImmunology	2012	916
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Nature Genetics Rare DiseasesSmchd1 MutationsMendelian DisorderGenetic DisorderGenetics	2017	160
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, The American Journal of Human Genetics	2017	159
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Brain Biallelic Ufm1Brain DevelopmentGeneticsGenomic MechanismDisease Gene Identification	2018	112
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
The clinical significance of small copy number variants in neurodevelopmental disorders Reza Asadollahi, Beatrice Oneda, Pascal Joset, Journal of Medical Genetics	2014	94
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Genetics in Medicine	2019	82
<i>FOXP2</i> variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Miriam S. Reuter, Ute Moog, Tracy A. Briggs, Journal of Medical Genetics	2016	80
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, The American Journal of Human Genetics Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGenetics	2021	80
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, European Journal of Human Genetics	2018	71

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