| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZH Coban Akdemir, ... Genetics in Medicine 19 (4), 412-420, 2017 | 99 | 2017 |
| DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract ATM Blackburn, N Bekheirnia, VC Uma, ME Corkins, Y Xu, JA Rosenfeld, ... Genetics in Medicine 21 (12), 2755-2764, 2019 | 23 | 2019 |
| Characterization of the renal phenotype in RMND1‐related mitochondrial disease BJ Shayota, NT Le, N Bekheirnia, JA Rosenfeld, AC Goldstein, M Moritz, ... Molecular Genetics & Genomic Medicine 7 (12), e973, 2019 | 12 | 2019 |
| Clinical utility of genetic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases N Bekheirnia, KE Glinton, L Rossetti, J Manor, W Chen, DJ Lamb, ... Kidney360 2 (1), 90-104, 2021 | 9 | 2021 |
| Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4 MW Tremblay, MV Green, BM Goldstein, AI Aldridge, JA Rosenfeld, ... Human Molecular Genetics 31 (9), 1430-1442, 2022 | 5 | 2022 |
| Nephronophthisis due to a novel DCDC2 variant in a patient from African‐Caribbean descent: A case report B Slater, N Bekheirnia, J Angelo, W Bi, MC Braun, MR Bekheirnia American Journal of Medical Genetics Part A 182 (3), 527-531, 2020 | 4 | 2020 |
| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 MS Paul, SL Michener, H Pan, H Chan, JM Pfliger, JA Rosenfeld, ... The American Journal of Human Genetics 111 (1), 96-118, 2024 | 3 | 2024 |
| Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood JL Alge, N Bekheirnia, AR Willcockson, X Qin, SE Scherer, MC Braun, ... Pediatric Nephrology 38 (3), 687-695, 2023 | 3 | 2023 |
| Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy MS Paul, SL Michener, H Pan, JM Pfliger, JA Rosenfeld, VC Lerma, ... medRxiv, 2023.03. 27.23287689, 2023 | 2 | 2023 |
| Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes S Yu, YJ Choi, JH Rim, HY Kim, N Bekheirnia, SJ Swartz, H Dai, SL Gu, ... Frontiers in Medicine 10, 1089159, 2023 | 2 | 2023 |
| Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic Y Ben Moshe, N Bekheirnia, RJH Smith, J Hicks, MC Braun, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 2 | 2022 |
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies JD Stegmann, JC Kalanithy, GC Dworschak, N Ishorst, E Mingardo, ... npj Genomic Medicine 9 (1), 18, 2024 | 1 | 2024 |
| Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract ATM Blackburn, N Bekheirnia, VC Uma, ME Corkins, Y Xu, JA Rosenfeld, ... Genetics in Medicine 22 (4), 821, 2020 | 1 | 2020 |
| Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and … N Li, Y Xu, H Chen, J Lin, L AlAbdi, MR Bekheirnia, G Li, Y Gofin, ... Ebiomedicine 99, 2024 | | 2024 |
| Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic. N Bekheirnia, RJH Smith, J Hicks, MC Braun, MR Bekheirnia American Journal of Medical genetics. Part C, Seminars in Medical Genetics, 2022 | | 2022 |
| Mutations of the Histone Linker H1-4: An Expanded Cohort and Functional Characterization of Frameshift Mutant H1. 4 in Neurons MW Tremblay, MV Green, JA Rosenfeld, H Streff, W Craigen, ... | | 2020 |
| Clinical utility of genetic and genomic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases N Bekheirnia, KE Glinton, L Rossetti, J Manor, W Chen, DJ Lamb, ... medRxiv, 2020.04. 22.20074690, 2020 | | 2020 |
| Renal disorders MR Bekheirnia, N Bekheirnia Handbook of Clinical Adult Genetics and Genomics, 353-367, 2020 | | 2020 |
