| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
| Quality control and quality assurance in genotypic data for genome‐wide association studies CC Laurie, KF Doheny, DB Mirel, EW Pugh, LJ Bierut, T Bhangale, ... Genetic epidemiology 34 (6), 591-602, 2010 | 550 | 2010 |
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 179 | 2011 |
| Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder F Malfait, A Kariminejad, T Van Damme, C Gauche, D Syx, F Merhi-Soussi, ... The American Journal of Human Genetics 92 (6), 935-945, 2013 | 140 | 2013 |
| Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations V Guergueltcheva, JS Müller, M Dusl, J Senderek, A Oldfors, C Lindbergh, ... Journal of neurology 259, 838-850, 2012 | 91 | 2012 |
| Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption AR Paciorkowski, K Keppler‐Noreuil, L Robinson, C Sullivan, S Sajan, ... American journal of medical genetics Part A 161 (7), 1523-1530, 2013 | 82 | 2013 |
| Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum M Sukalo, A Fiedler, C Guzmán, S Spranger, MC Addor, JN Mcheik, ... Human mutation 35 (5), 521-531, 2014 | 48 | 2014 |
| Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis … Y Okada, D Diogo, JD Greenberg, F Mouassess, WAL Achkar, RS Fulton, ... PLoS One 9 (2), e87645, 2014 | 44 | 2014 |
| Discriminative features in three autosomal recessive cutis laxa syndromes: cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica A Kariminejad, F Afroozan, B Bozorgmehr, A Ghanadan, S Akbaroghli, ... International journal of molecular sciences 18 (3), 635, 2017 | 32 | 2017 |
| Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities R Kretz, B Bozorgmehr, MH Kariminejad, M Rohrbach, I Hausser, ... Journal of inherited metabolic disease 34, 731-739, 2011 | 32 | 2011 |
| Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy M Elting, A Kariminejad, ML de Sonnaville, J Ottenkamp, S Bauhuber, ... American Journal of Medical Genetics Part A 146 (23), 3058-3061, 2008 | 26 | 2008 |
| Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum–Like Skin Manifestations Associated with GGCX Mutations A Kariminejad, B Bozorgmehr, A Najafi, A Khoshaeen, M Ghalandari, ... Journal of Investigative Dermatology 134 (9), 2331-2338, 2014 | 24 | 2014 |
| Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease L Bonafé, A Kariminejad, J Li, B Royer‐Bertrand, V Garcia, S Mahdavi, ... Arthritis & Rheumatology 68 (9), 2323-2327, 2016 | 23 | 2016 |
| Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts A Kariminejad, A Rajaee, MR Ashrafi, H Alizadeh, SH Tonekaboni, ... European journal of medical genetics 58 (2), 71-74, 2015 | 23 | 2015 |
| Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails A Kariminejad, NF Ajeawung, B Bozorgmehr, A Dionne-Laporte, ... Journal of human genetics 62 (4), 465-471, 2017 | 22 | 2017 |
| Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation A Kariminejad, B Bozorgmehr, H Alizadeh, S Ghaderi‐Sohi, G Toksoy, ... American journal of medical genetics Part A 164 (5), 1322-1327, 2014 | 19 | 2014 |
| Hepatitis viruses B and D and human immunodeficiency virus infections in hemodialysis patients in the south of Iran: prevalence and genotypes F Bahri, AK Kheirabad, I Ghasemzadeh, S Shoja, H Gouklani Hepatitis monthly 16 (1), 2016 | 18 | 2016 |
| Determination of aluminum and zinc in infusion tea cultivated in north of Iran M Ghoochani, S Shekoohiyan, M Yunesian, S Nazmara, AH Mahvi Journal of Environmental Health Science and Engineering 13, 1-6, 2015 | 18 | 2015 |
| Ullrich congenital muscular dystrophy (UCMD): clinical and genetic correlations B Bozorgmehr, A Kariminejad, S Nafissi, B Jebelli, U Andoni, C GARTIOU, ... Iranian Journal of Child Neurology 7 (3), 15, 2013 | 14 | 2013 |
| Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness–a diagnostic challenge? A Kariminejad, B Bozorgmehr, A Khatami, MH Kariminejad, C Giunta, ... Iranian journal of pediatrics 20 (3), 358, 2010 | 11 | 2010 |
