| Genome-wide gene-by-sex interaction studies identify novel nonsyndromic orofacial clefts risk locus W Awotoye, C Comnick, C Pendleton, E Zeng, A Alade, PA Mossey, ... Journal of dental research 101 (4), 465-472, 2022 | 10 | 2022 |
| ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines D Albokhari, BG Ng, A Guberinic, EJP Daniel, NM Engelhardt, R Barone, ... Journal of inherited metabolic disease 45 (5), 969-980, 2022 | 8 | 2022 |
| TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature D Albokhari, AB Pritchard, A Beil, C Muss, C Bupp, DK Grange, ... American Journal of Medical Genetics Part A 191 (5), 1261-1272, 2023 | 5 | 2023 |
| Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate W Awotoye, PA Mossey, JB Hetmanski, LJJ Gowans, MA Eshete, ... The Cleft Palate Craniofacial Journal 61 (4), 697-705, 2024 | 3 | 2024 |
| Milder presentation of autosomal dominant fatty acyl CoA reductase 1‐related syndrome: Report of the first Middle Eastern patient and review of the literature M Almuqbil, A AbuMelha, D Albokhari Clinical Case Reports 10 (10), e6307, 2022 | 2 | 2022 |
| The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature D Albokhari, O Alharbi, A Blesson, M Jain Molecular Case Studies 9 (4), a006319, 2023 | 1 | 2023 |
| The use of a diabetes electronic medical record template leads to consistent improvement of screening for complications of type 1 diabetes mellitus D Choudhary, B Brown, D Albokhari, S Elfadil, N Khawar, P Narula, ... Pediatrics 142 (1_MeetingAbstract), 616-616, 2018 | 1 | 2018 |
| P334: Ciliary analysis defines pathogenicity of novel WDR19 bi-allelic variants in patient with cranioectodermal dysplasia and mosaic chromosome 9p deletion D Albokhari, M Gunay-Aygun, J Hoover-Fong, MC Malicdan Genetics in Medicine Open 2, 2024 | | 2024 |
| Craniofacial Cases: Hearing Loss and Renal Agenesis D Albokhari, J Ogawa, J Bodurtha Genomics in the Clinic, 221-223, 2024 | | 2024 |
| Craniofacial Cases: Hearing Loss and Night Blindness in a Teenager J Ogawa, D Albokhari, J Bodurtha Genomics in the Clinic, 225-227, 2024 | | 2024 |
| Newborn Screening Cases: Abnormal Newborn Hearing Screening J Ogawa, D Albokhari, J Bodurtha Genomics in the Clinic, 179-181, 2024 | | 2024 |
| Craniofacial Cases: Congenital Hearing Loss D Albokhari, J Ogawa, J Bodurtha Genomics in the Clinic, 217-219, 2024 | | 2024 |
| Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands D Albokhari, CR Bailey, F Hwang, CR Weiss, J Forsberg, N Sobreira American Journal of Medical Genetics Part A 191 (6), 1570-1575, 2023 | | 2023 |
| A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic X Hong, H Alharbi, D Albokhari, AC Edmondson, M He Clinical Chemistry 68 (7), 987-989, 2022 | | 2022 |
| Milder presentation of autosomal dominant FAR1-related syndrome: report of the first middle eastern patient and review of the literature M Almuqbil, A AbuMelha, D Albokhari Authorea Preprints, 2022 | | 2022 |
| Genome-wide GxSex Interaction Studies Identify Novel nsOFCs Risk Locus W Awotoye, C Comnick, C Pendleton, E Zeng, A Alade, PA Mossey, ... Sage Publishing, 2021 | | 2021 |
| ALG8-CDG: new insights into an ultra-rare CDG D Albokhari, B Ng, E Daniel, N Engelhardt, R Barone, K Raymond, ... Molecular Genetics and Metabolism 132, S31-S32, 2021 | | 2021 |
