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ArticlesPeer ReviewedFull Text
Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects
Author / Creator:Berger, Hanna ; Gerstner, Sarah ; Horstmann, Marc-Frederik ; Pauli, Silke ; Borchers, Annette
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2024-06, Vol.17 (6)
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ArticlesPeer ReviewedFull Text
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
Author / Creator:Ufartes, Roser ; Berger, Hanna ; Till, Katharina ; Salinas, Gabriela ; Sturm, Marc ; Altmüller, Janine ; Nürnberg, Peter ; Thiele, Holger ; Funke, Rudolf ; Apeshiotis, Neophytos ; Langen, Hendrik ; Wollnik, Bernd ; Borchers, Annette ; Pauli, Silke
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-11, Vol.139 (11), p.1363-1379
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ArticlesPeer ReviewedFull Text
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literatur...
Author / Creator:Bukvic, Nenad ; De Rinaldis, Marta ; Chetta, Massimiliano ; Trabacca, Antonio ; Bassi, Maria Teresa ; Marsano, René Massimiliano ; Holoubkova, Lenka ; Rivieccio, Maria ; Oro, Maria ; Resta, Nicoletta ; Kerkhof, Jennifer ; Sadikovic, Bekim ; Viggiano, Luigi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-07, Vol.15 (7), p.826
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ArticlesPeer ReviewedFull Text
Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio
Author / Creator:Kondrychyn, Igor ; Robra, Lena ; Thirumalai, Vatsala
Publisher:Oxford: Oxford University Press
Journal title:G3 : genes - genomes - genetics, 2017-08, Vol.7 (8), p.2577-2593
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Newsletter articlesFull Text
Reports Outline Cell and Developmental Biology Study Results from Gottingen University Medical Center (Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2021, p.4050
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ArticlesPeer ReviewedFull Text
Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank
Author / Creator:Fawcett, Katherine A. ; Demidov, German ; Shrine, Nick ; Paynton, Megan L. ; Ossowski, Stephan ; Sayers, Ian ; Wain, Louise V. ; Hollox, Edward J.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-05, Vol.15 (1), p.119-11, Article 119
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ArticlesPeer ReviewedFull Text
First person – Hanna Berger and Sarah Gerstner
Publisher:The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2024-06, Vol.17 (6)
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ArticlesPeer ReviewedFull Text
Ancestry of the AUTS2 family–A novel group of polycomb-complex proteins involved in human neurological disease
Author / Creator:Sellers, Robert A. ; Robertson, David L. ; Tassabehji, May
Publisher:United States: Public Library of Science
Journal title:PloS one, 2020-12, Vol.15 (12), p.e0232101
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ArticlesFull Text
Examining Fetal Sex-Specific Placental DNA Methylation Intensities and Variability Post In Vitro Fertilization
Author / Creator:Lemaire, Melanie ; Smith, Keaton Warrick ; Wilson, Samantha L
Publisher:Cold Spring Harbor Laboratory
Journal title:bioRxiv, 2024-08
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ArticlesFull Text
Genome-Wide Association Study Meta-Analysis for Parkinson’s Disease Motor Subtypes
Author / Creator:Alfradique-Dunham, Isabel ; Al-Ouran, Rami ; von Coelln, Rainer ; Blauwendraat, Cornelis ; Hill, Emily ; Luo, Lan ; Stillwell, Amanda ; Young, Emily ; Tan, Manuela ; Liao, Calwing ; Hernandez, Dena G. ; Pihlstrom, Lasse ; Grosset, Donald ; Shulman, Lisa M. ; Liu, Zhandong ; Rouleau, Guy A. ; Nalls, Mike A. ; Singleton, Andrew B. ; Morris, Huw ; Jankovic, Joseph ; Shulman, Joshua M.
Publisher:Cold Spring Harbor Laboratory
Journal title:bioRxiv, 2020-06
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ArticlesFull Text
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
Author / Creator:Alfradique-Dunham, Isabel ; Al-Ouran, Rami ; Rainer Von Coelln ; Blauwendraat, Cornelis ; Hill, Emily ; Luo, Lan ; Stillwell, Amanda ; Young, Emily ; Tan, Manuela ; Liao, Calwing ; Hernandez, Dena ; Pihlstrom, Lasse ; Grosset, Donald ; Shulman, Lisa M ; Liu, Zhandong ; Rouleau, Guy ; International Parkinson's Disease Genomics Consortium ; Nalls, Mike A ; Singleton, Andrew ; Morris, Huw ; Jankovic, Joseph ; Shulman, Joshua M
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-06
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ArticlesPeer ReviewedFull Text
AUTS2 Syndrome: Molecular Mechanisms and Model Systems
Author / Creator:Biel, Alecia ; Castanza, Anthony S. ; Rutherford, Ryan ; Fair, Summer R. ; Chifamba, Lincoln ; Wester, Jason C. ; Hester, Mark E. ; Hevner, Robert F.
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-03, Vol.15, p.858582
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ArticlesPeer ReviewedFull Text
Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common
Author / Creator:Zapata, Isain ; Moraes, Luis E. ; Fiala, Elise M. ; Zaldivar-Lopez, Sara ; Couto, C. Guillermo ; Rowell, Jennie L. ; Alvarez, Carlos E.
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2019-03, Vol.20 (1), p.226-14, Article 226
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Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects

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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

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De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literatur...

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Transcriptional Complexity and Distinct Expression Patterns of auts2 Paralogs in Danio rerio

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Reports Outline Cell and Developmental Biology Study Results from Gottingen University Medical Center (Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome...

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Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

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First person – Hanna Berger and Sarah Gerstner

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Ancestry of the AUTS2 family–A novel group of polycomb-complex proteins involved in human neurological disease

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Examining Fetal Sex-Specific Placental DNA Methylation Intensities and Variability Post In Vitro Fertilization

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Genome-Wide Association Study Meta-Analysis for Parkinson’s Disease Motor Subtypes

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Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes

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AUTS2 Syndrome: Molecular Mechanisms and Model Systems

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Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common

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