| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood J Ng, J Zhen, E Meyer, K Erreger, Y Li, N Kakar, J Ahmad, H Thiele, ... Brain 137 (4), 1107-1119, 2014 | 173 | 2014 |
| Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 G Borck, AU Rehman, K Lee, HM Pogoda, N Kakar, S Von Ameln, ... The American Journal of Human Genetics 88 (2), 127-137, 2011 | 130 | 2011 |
| Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum L Basel-Vanagaite, T Hershkovitz, E Heyman, M Raspall-Chaure, N Kakar, ... The American Journal of Human Genetics 93 (3), 524-529, 2013 | 91 | 2013 |
| Prevalence of hepatitis C virus (HCV) genotypes in Balochistan S Afridi, M Naeem, A Hussain, N Kakar, ME Babar, J Ahmad Molecular biology reports 36, 1511-1514, 2009 | 72 | 2009 |
| Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice M Spielmann, N Kakar, N Tayebi, C Leettola, G Nürnberg, N Sowada, ... Genome research 26 (2), 183-191, 2016 | 66 | 2016 |
| A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly N Kakar, I Goebel, S Daud, G Nürnberg, N Agha, A Ahmad, P Nürnberg, ... European journal of medical genetics 55 (12), 727-731, 2012 | 58 | 2012 |
| De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome K Szakszon, C Salpietro, N Kakar, AC Knegt, É Oláh, B Dallapiccola, ... American journal of medical genetics Part A 161 (4), 884-888, 2013 | 48 | 2013 |
| A novel HSF4gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan N Sajjad, I Goebel, N Kakar, AM Cheema, C Kubisch, J Ahmad BMC Medical Genetics 9, 1-6, 2008 | 43 | 2008 |
| STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly N Kakar, J Ahmad, DJ Morris-Rosendahl, J Altmüller, K Friedrich, G Barbi, ... Human Genetics 134, 45-51, 2015 | 40 | 2015 |
| Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe LM Graul-Neumann, A Deichsel, U Wille, N Kakar, R Koll, C Bassir, ... European Journal of Human Genetics 22 (6), 726-733, 2014 | 31 | 2014 |
| Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan S Malik, N Kakar, S Hasnain, J Ahmad, ER Wilcox, S Naz Clinical genetics 78 (3), 247-256, 2010 | 30 | 2010 |
| An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group G Borck, N Kakar, J Hoch, K Friedrich, J Freudenberg, G Nürnberg, ... Human genetics 131, 209-216, 2012 | 26 | 2012 |
| Various aspects, patterns and risk factors in breast cancer patients of Balochistan AH Baloch, J Shuja, S Daud, M Ahmed, A Ahmad, M Tareen, F Khan, ... Asian Pacific Journal of Cancer Prevention 13 (8), 4013-4016, 2012 | 26 | 2012 |
| Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly I Ullah, N Kakar, I Schrauwen, S Hussain, I Chakchouk, K Liaqat, ... Human genetics 138, 593-600, 2019 | 24 | 2019 |
| A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia K Stange, J Désir, N Kakar, TD Mueller, BS Budde, CT Gordon, D Horn, ... Orphanet journal of rare diseases 10, 1-6, 2015 | 21 | 2015 |
| Missense mutations (p. H371Y, p. D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin AH Baloch, S Daud, N Raheem, M Luqman, A Ahmad, A Rehman, ... Molecular biology reports 41, 1103-1107, 2014 | 20 | 2014 |
| Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts A Ahmad, S Daud, N Kakar, G Nürnberg, P Nürnberg, ME Babar, ... Molecular vision 17, 1940, 2011 | 20 | 2011 |
| A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy KP Figueroa, C Gross, E Buena-Atienza, S Paul, M Gandelman, N Kakar, ... Nature Genetics 56 (6), 1080-1089, 2024 | 19 | 2024 |
| Mutations of PTPN23 in developmental and epileptic encephalopathy N Sowada, MO Hashem, R Yilmaz, M Hamad, N Kakar, H Thiele, ST Arold, ... Human Genetics 136, 1455-1461, 2017 | 18 | 2017 |
| Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation N Kakar, J Ahmad, C Kubisch, G Borck American Journal of Medical Genetics Part A 161 (10), 2672-2674, 2013 | 17 | 2013 |