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Orphanet Journal of Rare Diseases|June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaKatja Stange, Julie Désir, Naseebullah Kakar, et al.
Molecular Vision|August 19, 2011
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataractsAdeel Ahmad, Shakeela Daud, Naseebullah Kakar, et al.
Human Genetics|November 2, 2017
Mutations of PTPN23 in developmental and epileptic encephalopathyNadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, et al.
Human Genetics|September 15, 2014
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyNaseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, et al.
Human Genetics|July 16, 2011
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood groupGuntram Borck, Naseebullah Kakar, Jochen Hoch, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|October 27, 2012
Various aspects, patterns and risk factors in breast cancer patients of BalochistanAbdul Hameed Baloch, Jameela Shuja, Shakeela Daud, et al.
American Journal of Human Genetics|January 16, 2024
STIGMA: Single-cell tissue-specific gene prioritization using machine learningSaranya Balachandran, Cesar A Prada-Medina, Martin A Mensah, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
Clinical Genetics|February 20, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasiasNaseebullah Kakar, Fazal Ur Rehman, Ramandeep Kaur, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeLuitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, et al.
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