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Profil
| Derzeitige Stellung | Professor W-1 und Äquivalente |
|---|---|
| Fachgebiet | Humangenetik |
| Keywords | CRISPR/ Cas9, Intellectual Disability, 3D Genome, sc-RNA-seq, Structural Variant |
| Auszeichnungen | 2021: Alexander von Humboldt fellowship for the postdoc, 2022-23, Germany 2019: PIFI CAS visiting Scientist award, CAS, 2019, China (not availed due to COVID-19). 2018: Outstanding research award for the Year 2015/2016 by HEC, Pakistan. 2014: Selected paper presentation at Annual GFH conference, 2014, Graz, Austria. 2009: Best teacher award for the Year 2009/2010 by HEC, Pakistan. |
Aktuelle Kontaktadresse
| Land | Pakistan |
|---|---|
| Ort | Quetta |
| Universität/Institution | Balochistan University of Information Technology, Engineering and Management Sciences |
| Institut/Abteilung | Department of Biotechnology and Informatics |
Gastgeber*innen während der Förderung
| Prof. Dr. med. Malte Spielmann | Institut für Humangenetik, Universität zu Lübeck, Lübeck |
|---|---|
| Prof. Dr. med. Malte Spielmann | Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Universität zu Lübeck, Lübeck |
| Beginn der ersten Förderung | 01.11.2021 |
Programm(e)
| 2021 | Georg Forster-Forschungsstipendien-Programm für Postdocs |
|---|
Publikationen (Auswahl)
| 2024 | Figueroa, Karla P and Gross, Caspar and Buena-Atienza, Elena and Paul, Sharan and Gandelman, Mandi and Kakar, Naseebullah and Sturm, Marc and Casadei, Nicolas and Admard, Jakob and Park, Joohyun and others: A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. In: Nature Genetics, 2024, 1--10 |
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| 2024 | Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, Syed M Ijlal Haider, Vaishnavi Ashok Badiger, Mobina Shadman Ghofrani, Nathalie Kruse, Sohana Nadeem Hashmi, Jelena Pozojevic, Saranya Balachandran, Mathias Toft, Sajid Malik, Kristian Händler, Ambrin Fatima, Zafar Iqbal, Anju Shukla, Malte Spielmann, Periyasamy Radhakrishnan: Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. In: Human Genetics, 144, 2024, 55-65 |
| 2024 | Pozojevic, Jelena and Sivaprasad, Radhika and La{\ss}, Joshua and Haarich, Franziska and Trinh, Joanne and Kakar, Naseebullah and Schulz, Kristin and Händler, Kristian and Verrijn Stuart, Annemarie A and Giltay, Jacques C and others: LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome. In: Scientific Reports, 14, 2024, 16302 |
| 2024 | Kakar, Naseebullah and Rehman, Fazal ur and Kaur, Ramandeep and Bhavani, Gandham SriLakshmi and Goyal, Manisha and Shah, Hitesh and Kaur, Karandeep and Sodhi, Kushaljit Singh and Kubisch, Christian and Borck, Guntram and others: Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias. In: Clinical Genetics, 2024, |
| 2024 | Balachandran, Saranya and Prada-Medina, Cesar A and Mensah, Martin A and Glaser, Juliane and Kakar, Naseebullah and Nagel, Inga and Pozojevic, Jelena and Audain, Enrique and Hitz, Marc-Phillip and Kircher, Martin and others: STIGMA: Single-cell tissue-specific gene prioritization using machine learning. In: The American Journal of Human Genetics, 111, 2024, 338--349 |
| 2023 | Parveen, Asia and Tariq, Muhammad and Khan, Sher Alam and Kakar, Naseebullah and Arif, Amina and Wasif, Naveed: A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family. In: Human Genome Variation, 10, 2023, 16 |
| 2023 | Muhammad, Nazif and Hussain, Syeda Iqra and Rehman, Zia Ur and Khan, Sher Alam and Jan, Samin and Khan, Niamatullah and Muzammal, Muhammad and Abbasi, Sumra Wajid and Kakar, Naseebullah and Rehman, Zia Ur and others: Autosomal recessive variants c. 953A> C and c. 97-1G> C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms. In: Frontiers in Neurology, 14, 2023, 1168307 |
| 2023 | Figueroa, Karla P and Gross, Caspar and Atienza, Elena Buena and Paul, Sharan and Gandelman, Mandi and Haack, Tobias B and Kakar, Naseebullah and Sturm, Marc and Casadei, Nicolas and Admard, Jakob and others: GGC expansion in ZFHX3 causes SCA4 and impairs autophagy. In: MedRxiv, 2023, 2023--10 |