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Haplotype Phasing of Biallelic WNT10B Variants Using Long‐Read Sequencing in Split‐Hand/Foot Malformation Syndrome
Jelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, Nathalie Kruse, Kristian Händler, Saranya Balachandran, Varun Sreenivasan, Martin A Mensah, Malte Spielmann
(2025)
Clinical Genetics
vol.
107
no.
5
pp.
582-584
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Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability …
Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, Azmatullah, 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
(2025)
Human Genetics
vol.
144
no.
1
pp.
55-65
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Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann
(2024)
Clinical Genetics
vol.
106
no.
1
pp.
47-55
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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
Jelena Pozojevic, Radhika Sivaprasad, Joshua Lass, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Haendler, Annemarie A Verrijn Stuart, Jacques C Giltay, Koen L van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C Hornig
(2024)
Scientific Reports
vol.
14
no.
1
pp.
16302
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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Karla P Figueroa, Caspar Gross, Elena Buena-Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Thomas Klopstock, Claudia Dufke, Daniel R Scoles, Arnulf Koeppen, Malte Spielmann, Olaf Riess, Stephan Ossowski, Tobias B Haack, Stefan M Pulst
(2024)
Nature Genetics
vol.
56
no.
6
pp.
1080-1089
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning
Saranya Balachandran, Cesar A Prada-Medina, Martin A Mensah, Juliane Glaser, Naseebullah Kakar, Inga Nagel, Jelena Pozojevic, Enrique Audain, Marc-Phillip Hitz, Martin Kircher, Varun KA Sreenivasan, Malte Spielmann
(2024)
The American Journal of Human Genetics
vol.
111
no.
2
pp.
338-349
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O1–1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism
Vincenzo Leuzzi
(2024)
European Journal of Paediatric Neurology
vol.
-
no.
-
pp.
-
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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
Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Zia Ur Rehman, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif
(2023)
Frontiers in Neurology
vol.
14
no.
-
pp.
1168307
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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif
(2023)
Human Genome Variation
vol.
10
no.
1
pp.
16
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GGC expansion in ZFHX3 causes SCA4 and impairs autophagy
Karla P Figueroa, Caspar Gross, Elena Buena Atienza, Sharan Paul, Mandi Gandelman, Tobias Haack, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Claudia Dufke, Jeannette Hübener-Schmid, Daniel R Scoles, Arnulf Koeppen, Stephan Ossowski, Malte Spielmann, Olaf Riess, Stefan M Pulst
(2023)
MedRxiv
vol.
-
no.
-
pp.
2023.10. 26.23297560
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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, Naveed Wasif, Regie Lyn P Santos-Cortez, Saadullah Khan, Abdul Aziz, Kwanghyuk Lee, Julien Couthouis, Denise Horn, Bjørt K Kragesteen, Malte Spielmann, Holger Thiele, Deborah A Nickerson, Michael J Bamshad, Aaron D Gitler, Jamil Ahmad, Muhammad Ansar, Guntram Borck, Wasim Ahmad, Suzanne M Leal
(2019)
Human genetics
vol.
138
no.
6
pp.
593-600
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Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Dulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Salem Alawbathani, Roswitha Plank, Katja Eckl, Birgit Krabichler, Janine Altmüller, Peter Nürnberg, Johannes Zschocke, Guntram Borck, Matthias Schmuth, Adnan S Alabdulkareem, Kholood Abdulaziz Alnutaifi, Hans Christian Hennies
(2019)
Molecular genetics & genomic medicine
vol.
7
no.
3
pp.
e539
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Oro-facio-digital syndrome caused by a novel mutation in DDX59
N Wasif, N Kakar, J Couthuis, AD Gitler, J Ahmad, G Borck
(2018)
EUROPEAN JOURNAL OF HUMAN GENETICS
vol.
26
no.
-
pp.
242-243
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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic …
Naseebullah Kakar, Denise Horn, Eva Decker, Nadine Sowada, Christian Kubisch, Jamil Ahmad, Guntram Borck, Carsten Bergmann
(2018)
American Journal of Medical Genetics Part A
vol.
176
no.
2
pp.
438-442
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Mutations of PTPN23 in developmental and epileptic encephalopathy
Nadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T Arold, Harald Bode, Fowzan S Alkuraya, Guntram Borck
(2017)
Human Genetics
vol.
136
no.
11
pp.
1455-1461
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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Shakeela Daud, Naseebullah Kakar, Ingrid Goebel, Abu Saeed Hashmi, Tahir Yaqub, Gudrun Nürnberg, Peter Nürnberg, Deborah J Morris-Rosendahl, Muhammad Wasim, Alexander E Volk, Christian Kubisch, Jamil Ahmad, Guntram Borck
(2016)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
vol.
17
no.
3-4
pp.
260-265
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Identification of Genes Responsible for Autosomal Recessive Monogenic Disorders in the Pakistani Population: From Candidate Gene Analysis to Next-generation Sequencing
Naseebullah Kakar
(2016)
-
vol.
-
no.
-
pp.
-
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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Malte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, Catherine Leettola, Gudrun Nürnberg, Nadine Sowada, Darío G Lupiáñez, Izabela Harabula, Ricarda Flöttmann, Denise Horn, Wing Lee Chan, Lars Wittler, Rüstem Yilmaz, Janine Altmüller, Holger Thiele, Hans van Bokhoven, Charles E Schwartz, Peter Nürnberg, James U Bowie, Jamil Ahmad, Christian Kubisch, Stefan Mundlos, Guntram Borck
(2016)
Genome research
vol.
26
no.
2
pp.
183-191
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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D Mueller, Birgit S Budde, Christopher T Gordon, Denise Horn, Petra Seemann, Guntram Borck
(2015)
Orphanet Journal of Rare Diseases
vol.
10
no.
1
pp.
84
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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Naseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, Janine Altmüller, Katrin Friedrich, Gotthold Barbi, Peter Nürnberg, Christian Kubisch, William B Dobyns, Guntram Borck
(2015)
Human Genetics
vol.
134
no.
1
pp.
45-51
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