Stephan Zuchner
University of Miami
H-index: 86
North America-United States
Top articles of Stephan Zuchner
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Testing SIPA1L2 as a modifier of CMT1A using mouse models | Journal of Neuropathology & Experimental Neurology | George C Murray Timothy J Hines Abigail LD Tadenev Isaac Xu Stephan Züchner | 2024/5/1 |
O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) | Genetics in Medicine Open | Stephanie Bivona Carson Smith Guney Bademci LéShon Peart Joanna Gonzalez | 2024/1/1 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature | Limin Li Manoj P Menezes Melanie Smith Robin Forbes Stephan Züchner | 2024/3/12 | |
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study | EBioMedicine | Riwei Ouyang Linlin Wan David Pellerin Zhe Long Jian Hu | 2024/4/1 |
GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013) | David Pellerin Felix Heindl Carlo Wilke Matt Danzi Andreas Traschutz | 2024/4/14 | |
Characterization and visualization of tandem repeats at genome scale | Nature Biotechnology | Egor Dolzhenko Adam English Harriet Dashnow Guilherme De Sena Brandine Tom Mokveld | 2024/1/2 |
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases | Brain communications | Danique Beijer Sheila Marte Jiaxin C Li Willem De Ridder Jessie Z Chen | 2024 |
EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder | American Journal of Medical Genetics Part A | Irman Forghani Steven H Lang Matthew J Rodier Stephanie A Bivona Undiagnosed Diseases Network | 2024/2/13 |
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis | Journal of Neurology, Neurosurgery & Psychiatry | Maike F Dohrn Danique Beijer Museer A Lone Elif Bayraktar Piraye Oflazer | 2024/3/1 |
Standards of NGS data sharing and analysis in ataxias: recommendations by the NGS working group of the ataxia global initiative | The Cerebellum | Danique Beijer Brent L Fogel Sergi Beltran Matt C Danzi Andrea H Németh | 2024/4 |
Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001) | Rotem Orbach Safoora Syeda Payam Mohassel Maike Dohrn Museer A Lone | 2024/4/14 | |
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population | Human genomics | Nejat Mahdieh Morteza Heidari Zahra Rezaei Ali Reza Tavasoli Sareh Hosseinpour | 2024/12 |
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia | David Pellerin Matt C Danzi Mathilde Renaud Henry Houlden Matthis Synofzik | 2024/1 | |
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease | medRxiv | Tanner D Jensen Bohan Ni Chloe Reuter John E Gorzynski Sarah Fazal | 2024 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation | Nature Communications | Marwan Nashabat Nasrinsadat Nabavizadeh Hilal Pırıl Saraçoğlu Burak Sarıbaş Şahin Avcı | 2024/2/27 |
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights | Brain | Adriana P Rebelo Clemer Abad Maike F Dohrn Jian J Li Ethan K Tieu | 2024/3/27 |
Mechanisms of Neurodegeneration and Mini-gene Therapeutic Approach for Charcot-Marie-Tooth Disease Type 4B3 (S37. 007) | Elizabeth Jacobs Matt Danzi Adriana Rebelo Stephan Zuchner Mario Saporta | 2024/4/14 |
