| Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ... The American Journal of Human Genetics 105 (4), 689-705, 2019 | 54 | 2019 |
| Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations K Grand, C Gonzalez‐Gandolfi, AM Ackermann, D Aljeaid, E Bedoukian, ... American Journal of Medical Genetics Part A 179 (4), 542-551, 2019 | 25 | 2019 |
| Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy D Aljeaid, AI Sanchez, E Wakefield, SE Chadwell, N Moore, CE Prada, ... American Journal of Medical Genetics Part A 179 (4), 608-614, 2019 | 15 | 2019 |
| A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia D Aljeaid, RC Lombardo, DP Witte, RJ Hopkin American Journal of Medical Genetics Part A 179 (6), 1010-1014, 2019 | 14 | 2019 |
| Molecular profiling of melanocortin 4 receptor variants and agouti-related peptide interactions in morbid obese phenotype: A novel paradigm from molecular docking and dynamics … AIH Bima, AZ Elsamanoudy, KS Alghamdi, T Shinawi, A Mujalli, PR Kaipa, ... Biologia 77 (5), 1481-1496, 2022 | 5 | 2022 |
| Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency NA Shaik, NB Saud Al-Saud, T Abdulhamid Aljuhani, K Jamil, H Alnuman, ... Frontiers in Molecular Biosciences 9, 1051511, 2022 | 4 | 2022 |
| Comparison of evolution of aortic root dilation and ghent criteria in preadolescents and adolescents with and without Marfan syndrome DC Monteil, A Shikany, D Aljeaid, A Parrott, JT Tretter, J James, LJ Martin, ... The Journal of Pediatrics 221, 188-195. e1, 2020 | 2 | 2020 |
| FETAL MRI FINDINGS IN JOUBERT SYNDROME BN Simpson, J Owens, R Hopkin, B Kline-Fath, D Khattar, BR Sullivan, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 182 (4), 893-893, 2020 | | 2020 |
| Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies DJ Smits, P Magini, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1085-1086, 2019 | | 2019 |
| IT ACTUALLY MATTERS: UTILITY OF A DIAGNOSIS FOR VERY RARE CONDITIONS RJ Hopkin, RC Lombardo, B Russell, D Aljeaid, A Yadav, BR Sullivan, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 732-733, 2019 | | 2019 |
| Targeted Molecular Sequencing Revealed Allelic Heterogeneity of BRAF and PTPN11 Genes among Arab Noonan Syndrome Patients JY Al-Aama, B Banaganapalli, D Aljeaid, K Bakhur, PK Verma, J Al-Ata, ... Russian Journal of Genetics 54, 975-984, 2018 | | 2018 |
| 39. Lessons learned from supplementary testing in constitutional and hematologic cases TA Smolarek, K Sund, N Smith, D Aljeaid, PB Alonso, B Francisco, P Long, ... Cancer Genetics 224, 65, 2018 | | 2018 |
| NOVEL PAATHOGENIC VARIANT IN OFD1 RESULTS IN MALE LETHAL ORAL FACIAL DIGITAL SYNDROME TYPE 1 WITH PITUITARY APLASIA D Aljeaid, RC Lombardo, DP Witte, RJ Hopkin AMERICAN JOURNAL OF MEDICAL GENETICS PART A 176 (6), 1510-1510, 2018 | | 2018 |
