Stefan Höning

Institute of Biochemistry I and Center for Molecular Medicine Cologne University of Cologne

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论文共 48 篇作者统计合作学者相似作者

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A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021)

Emrah Kaygusuz,Arwa Ishaq A. Khayyat,Uzma Abdullah,Birgit Susanne Budde,Maria Asif,Ilyas Ahmed,Ehtisham Ul Haq Makhdoom,Ilknur Sur-Erdem,Jamshaid Mahmood Baig,Muhammad Mohsin Ali Khan,Mohammad Reza Toliat,Christian Becker,Haseeb Anwar,Maria Iqbal,Sarah Fischer,Muhammad Jameel,Muhammad Sher,Muhammad Tariq,Naveed Altaf Malik,Angelika A. Noegel,Muhammad Jawad Hassan,Holger Thiele,Sigrid Tinschert,Ludwig Eichinger,Stefan Honing,Shahid Mahmood Baig,Peter Nurnberg,Muhammad Sajid Hussain

CLINICAL GENETICS（2022）

引用0浏览0引用

De Novo Variants of CSNK2B Cause a New Intellectual Disability-Craniodigital Syndrome by Disrupting the Canonical Wnt Signaling Pathway

Maria Asif,Emrah Kaygusuz,Marwan Shinawi,Anna Nickelsen,Tzung-Chien Hsieh,Prerana Wagle,Birgit S. Budde,Jennifer Hochscherf,Uzma Abdullah,Stefan Honing,Christian Nienberg,Dirk Lindenblatt,Angelika A. Noegel,Janine Altmuller,Holger Thiele,Susanne Motameny,Nicole Fleischer, Idan Segal,Lynn Pais,Sigrid Tinschert,Nadra Nasser Samra,Juliann M. Savatt,Natasha L. Rudy,Chiara De Luca,Paola Fortugno,Susan M. White,Peter Krawitz,Anna C. E. Hurst,Karsten Niefind,Joachim Jose,Francesco Brancati,Peter Nurnberg,Muhammad Sajid Hussain

Human Genetics and Genomics Advances（2022）

引用14浏览0WOS引用

FCHO Controls AP2’s Critical Endocytic Roles Through a PtdIns4,5P2 Membrane-Dependent Switch

Nathan R. Zaccai,Zuzana Kadlecova,Veronica Kane Dickson,Kseniya Korobchevskaya,Jan Kamenicky,Oleksiy Kovtun,Perunthottathu K. Umasankar,Antoni G. Wrobel,Jonathan G.G. Kaufman,Sally Gray,Kun Qu,Philip R. Evans,Marco Fritzsche,Filip Sroubek,Stefan Höning,John A.G. Briggs,Bernard T. Kelly,David J. Owen,Linton M. Traub

openalex（2022）

引用0浏览0引用

FCHO Controls AP2's Initiating Role in Endocytosis Through a PtdIns(4,5)P2-dependent Switch

Nathan R. Zaccai,Zuzana Kadlecova,Veronica Kane Dickson,Kseniya Korobchevskaya,Jan Kamenicky,Oleksiy Kovtun,Perunthottathu K. Umasankar,Antoni G. Wrobel,Jonathan G. G. Kaufman,Sally R. Gray,Kun Qu,Philip R. Evans,Marco Fritzsche,Filip Sroubek,Stefan Hoening,John A. G. Briggs,Bernard T. Kelly,David J. Owen,Linton M. Traub

Science Advances（2022）

引用15浏览0WOSSCIENCE引用

A 24‐generation‐old Founder Mutation Impairs Splicing of RBBP8 in Pakistani Families Affected with Jawad Syndrome

Emrah Kaygusuz,Arwa Ishaq A. Khayyat,Uzma Abdullah,Birgit Susanne Budde,Maria Asif,Ilyas Ahmed,Ehtisham Ul Haq Makhdoom,Ilknur Sur‐Erdem,Jamshaid Mahmood Baig,Muhammad Mohsin Ali Khan,Mohammad Reza Toliat,Christian Becker,Haseeb Anwar,Maria Iqbal,Sarah Fischer,Muhammad Jameel,Muhammad Sher,Muhammad Tariq,Naveed Altaf Malik,Angelika A. Noegel,Muhammad Jawad Hassan,Holger Thiele,Sigrid Tinschert,Ludwig Eichinger,Stefan Höning,Shahid Mahmood Baig,Peter Nürnberg,Muhammad Sajid Hussain

Clinical Geneticsno. 4 (2021): 486-488

引用0浏览0引用

A 24-Generation-Old Founder Mutation Impairs Splicing Of Rbbp8 In Pakistani Families Affected With Jawad Syndrome

Emrah Kaygusuz,Arwa Ishaq A. Khayyat,Uzma Abdullah,Birgit Susanne Budde,Maria Asif,Ilyas Ahmed,Ehtisham Ul Haq Makhdoom,Ilknur Sur-Erdem,Jamshaid Mahmood Baig,Muhammad Mohsin Ali Khan,Mohammad Reza Toliat,Christian Becker,Haseeb Anwar,Maria Iqbal,Sarah Fischer,Muhammad Jameel,Muhammad Sher,Muhammad Tariq,Naveed Altaf Malik,Angelika A. Noegel,Muhammad Jawad Hassan,Holger Thiele,Sigrid Tinschert,Ludwig Eichinger,Stefan Hoening,Shahid Mahmood Baig,Peter Nuernberg,Muhammad Sajid Hussain

CLINICAL GENETICSno. 4 (2021): 486-488

引用4浏览0WOS引用

Inhibition of Clathrin‐mediated Endocytosis by Knockdown of AP‐2 Leads to Alterations in the Plasma Membrane Proteome

David Tobys, Lisa Maria Kowalski,Eva Cziudaj,Stefan Mueller,Peter Zentis,Elke Pach,Paola Zigrino, Tobias Blaeske,Stefan Hoening

TRAFFIC（2021）

引用20浏览0WOS引用

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

Ehtisham Ul Haq Makhdoom,Syeda Seema Waseem,Maria Iqbal,Uzma Abdullah,Ghulam Hussain,Maria Asif,Birgit Budde,Wolfgang Hoehne,Sigrid Tinschert,Saadia Maryam Saadi,Hammad Yousaf,Zafar Ali,Ambrin Fatima,Emrah Kaygusuz,Ayaz Khan,Muhammad Jameel,Sheraz Khan,Muhammad Tariq,Iram Anjum,Janine Altmueller,Holger Thiele,Stefan Hoening,Shahid Mahmood Baig,Peter Nuernberg,Muhammad Sajid Hussain

Genes（2021）

引用10浏览0WOS引用

Microtubule-dependent and Independent Roles of Spastin in Lipid Droplet Dispersion and Biogenesis

Nimesha Tadepalle,Lennart Robers,Matteo Veronese,Peter Zentis,Felix Babatz,Susanne Brodesser,Anja Gruszczyk,Astrid Schauss,Stefan Hoening,Elena Rugarli

LIFE SCIENCE ALLIANCE（2020）

引用8浏览0WOS引用

An Update of Pathogenic Variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 Underlying Autosomal Recessive Primary Microcephaly in 32 Consanguineous Families from Pakistan

Sajida Rasool,Jamshaid Mahmood Baig,Abubakar Moawia,Ilyas Ahmad,Maria Iqbal,Syeda Seema Waseem,Maria Asif,Uzma Abdullah,Ehtisham Ul Haq Makhdoom,Emrah Kaygusuz,Muhammad Zakaria,Shafaq Ramzan,Saif ul Haque,Asif Mir,Iram Anjum, Mehak Fiaz,Zafar Ali,Muhammad Tariq,Neelam Saba,Wajid Hussain,Birgit Budde,Saba Irshad,Angelika Anna Noegel,Stefan Hoening,Shahid Mahmood Baig,Peter Nuernberg,Muhammad Sajid Hussain

Molecular genetics & genomic medicine（2020）

引用24浏览0WOS引用

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作者统计

#Papers: 48

#Citation: 2537

H-Index: 23

G-Index: 30

Sociability: 6

Diversity: 3

Activity: 11

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