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Kakar, Naseebullah
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1

LINE1-mediated epigenetic repression of androgen receptor t..:

Pozojevic, Jelena ; Sivaprasad, Radhika ; Laß, Joshua...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

STIGMA: Single-cell tissue-specific gene prioritization usi..:

Balachandran, Saranya ; Prada-Medina, Cesar A. ; Mensah, Martin A....
The American Journal of Human Genetics.  111 (2024)  3 - p. 618 , 2024
Link: https://doi.org/10.1016/..
 
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3

STIGMA: Single-cell tissue-specific gene prioritization usi..:

Balachandran, Saranya ; Prada-Medina, Cesar A. ; Mensah, Martin A....
The American Journal of Human Genetics.  111 (2024)  2 - p. 338-349 , 2024
Link: https://doi.org/10.1016/..
 
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4

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes..:

Figueroa, Karla P. ; Gross, Caspar ; Buena-Atienza, Elena...
Nature Genetics.  56 (2024)  6 - p. 1080-1089 , 2024
Link: https://doi.org/10.1038/..
 
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5

Multi‐gene panel sequencing in highly consanguineous famili..:

Kakar, Naseebullah ; Rehman, Fazal ur ; Kaur, Ramandeep...
Clinical Genetics.  106 (2024)  1 - p. 47-55 , 2024
Link: https://doi.org/10.1111/..
 
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6

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN..:

Muhammad, Nazif ; Hussain, Syeda Iqra ; Rehman, Zia Ur...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

A novel frameshift variant in UBA2 causing split-hand/foot ..:

Parveen, Asia ; Tariq, Muhammad ; Khan, Sher Alam...
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Variants in KIAA0825 underlie autosomal recessive postaxial..:

Ullah, Irfan ; Kakar, Naseebullah ; Schrauwen, Isabelle...
Human Genetics.  138 (2019)  6 - p. 593-600 , 2019
Link: https://doi.org/10.1007/..
 
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9

Unknown mutations and genotype/phenotype correlations of au..:

Lima Cunha, Dulce ; Alakloby, Omar Mohammed ; Gruber, Robert...
Molecular Genetics & Genomic Medicine.  7 (2019)  3 - p. , 2019
Link: https://doi.org/10.1002/..
 
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10

Expanding the phenotype associated with biallelic WDR60 mut..:

Kakar, Naseebullah ; Horn, Denise ; Decker, Eva...
American Journal of Medical Genetics Part A.  176 (2017)  2 - p. 438-442 , 2017
Link: https://doi.org/10.1002/..
 
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11

Mutations of PTPN23 in developmental and epileptic encephal..:

Sowada, Nadine ; Hashem, Mais Omar ; Yilmaz, Rüstem...
Human Genetics.  136 (2017)  11-12 - p. 1455-1461 , 2017
Link: https://doi.org/10.1007/..
 
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12

Exome sequencing and CRISPR/Cas genome editing identify mut..:

Spielmann, Malte ; Kakar, Naseebullah ; Tayebi, Naeimeh...
Genome Research.  26 (2016)  2 - p. 183-191 , 2016
Link: https://doi.org/10.1101/..
 
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13

A hypomorphic BMPR1B mutation causes du Pan acromesomelic d..:

Stange, Katja ; Désir, Julie ; Kakar, Naseebullah...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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14

STIL mutation causes autosomal recessive microcephalic loba..:

Kakar, Naseebullah ; Ahmad, Jamil ; Morris-Rosendahl, Deborah J....
Human Genetics.  134 (2014)  1 - p. 45-51 , 2014
Link: https://doi.org/10.1007/..
 
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15

Dopamine transporter deficiency syndrome: phenotypic spectr..:

Ng, Joanne ; Zhen, Juan ; Meyer, Esther...
Brain.  137 (2014)  4 - p. 1107-1119 , 2014
Link: https://doi.org/10.1093/..
 
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