| Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ... Biological psychiatry 85 (4), 287-297, 2019 | 130 | 2019 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 42 | 2021 |
| Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations JJ Hughes, E Alkhunaizi, P Kruszka, LC Pyle, DK Grange, SI Berger, ... The American Journal of Human Genetics 106 (1), 121-128, 2020 | 35 | 2020 |
| Warsaw breakage syndrome: Further clinical and genetic delineation E Alkhunaizi, R Shaheen, SK Bharti, AM Joseph‐George, K Chong, ... American Journal of Medical Genetics Part A 176 (11), 2404-2418, 2018 | 25 | 2018 |
| Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum E Alkhunaizi, S Shuster, P Shannon, VM Siu, S Darilek, CA Mohila, ... American Journal of Medical Genetics Part A 179 (3), 386-396, 2019 | 19 | 2019 |
| Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy LC Bott, M Forouhan, M Lieto, AJ Sala, R Ellerington, JO Johnson, ... Brain communications 3 (4), fcab245, 2021 | 16 | 2021 |
| Maternally inherited MAF variant associated with variable expression of Aymé‐Gripp syndrome E Alkhunaizi, RK Koenekoop, C Saint‐Martin, L Russell American Journal of Medical Genetics Part A 179 (11), 2233-2236, 2019 | 13 | 2019 |
| Semaphorin-plexin signaling: From axonal guidance to a new X-linked intellectual disability syndrome JL Steele, MM Morrow, HB Sarnat, E Alkhunaizi, T Brandt, DA Chitayat, ... Pediatric neurology 126, 65-73, 2022 | 10 | 2022 |
| Clinical characterization of a PUF60 variant in a patient with Dubowitz‐like syndrome E Alkhunaizi, N Braverman American Journal of Medical Genetics Part A 179 (1), 130-133, 2019 | 9 | 2019 |
| Warsaw syndrome E Alkhunaizi, RM Brosh Jr, FS Alkuraya, D Chitayat | 6* | 2019 |
| Mutation in the ADNP gene associated with Noonan syndrome features E Alkhunaizi, MA Walkiewicz, D Chitayat Clinical Dysmorphology 27 (2), 53-57, 2018 | 5 | 2018 |
| Novel 3q27. 2‐qter deletion in a patient with Diamond–Blackfan anemia and immunodeficiency: Case report and review of literature E Alkhunaizi, B Schrewe, R Alizadehfar, C Vézina, GS Stewart, ... American Journal of Medical Genetics Part A 173 (6), 1514-1520, 2017 | 4 | 2017 |
| Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders P Borgia, S Baldassari, N Pedemonte, E Alkhunaizi, G D’Onofrio, ... Orphanet Journal of Rare Diseases 17 (1), 286, 2022 | 2 | 2022 |
| Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants E Alkhunaizi, S Unger, P Shannon, G Nishimura, S Blaser, D Chitayat American journal of medical genetics Part A 182 (7), 1807-1811, 2020 | 2 | 2020 |
| AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders SA Lewis, S Bakhtiari, J Forstrom, A Bayat, F Bilan, G Le Guyader, ... Disease Models & Mechanisms 16 (9), 2023 | 1 | 2023 |
| Fetal akinesia deformation sequence syndrome associated with recessive TTN variants E Alkhunaizi, N Martin, AC Jelin, M Rosner, DJ Bailey, LA Steiner, ... American Journal of Medical Genetics Part A 191 (3), 760-769, 2023 | 1 | 2023 |
| 45, X/46, XY mosaicism: Clinical manifestations and long term follow‐up E Alkhunaizi, JP Albrecht, M Aarabi, SF Witchel, D Wherrett, R Babul‐Hirji, ... American Journal of Medical Genetics Part A 194 (3), e63451, 2024 | | 2024 |
| Pathogenic GABRA3 variants lead to dominant or recessive X-linked disorders depending on functional outcomes KM Johannesen, VWY Liao, N Absalom, RC Spillmann, V Shashi, ... EPILEPSIA 64, 28-29, 2023 | | 2023 |
| Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review A Thomas‐Wilson, JP Schacht, D Chitayat, S Blaser, FJR Santos, ... American Journal of Medical Genetics Part A 191 (7), 1935-1941, 2023 | | 2023 |
| Role of CACNG2 variants in human pathology S Cabet, A Maheshwari, J Noebels, A Goldman, M Farrant, S Cull-Candy, ... | | 2023 |
