| Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatric Neurology 123, 50-66, 2021 | 320 | 2021 |
| YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 135 | 2017 |
| Loss of function of the nuclear receptor NR2F2, encoding COUP-TF2, causes testis development and cardiac defects in 46, XX children A Bashamboo, C Eozenou, A Jorgensen, J Bignon-Topalovic, JP Siffroi, ... The American Journal of Human Genetics 102 (3), 487-493, 2018 | 83 | 2018 |
| Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States JE Hoover-Fong, AY Alade, SS Hashmi, JT Hecht, JM Legare, ME Little, ... Genetics in Medicine 23 (8), 1498-1505, 2021 | 43 | 2021 |
| Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature A Aggarwal, DF Rodriguez-Buritica, H Northrup European journal of medical genetics 60 (6), 285-288, 2017 | 41 | 2017 |
| Glycogen storage disease type Ia: current management options, burden and unmet needs TGJ Derks, DF Rodriguez-Buritica, A Ahmad, F de Boer, ML Couce, ... Nutrients 13 (11), 3828, 2021 | 36 | 2021 |
| Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung … C Nowbakht, AR Edwards, DF Rodriguez-Buritica, AM Luce, PB Doshi, ... Open forum infectious diseases 6 (3), ofz033, 2019 | 36 | 2019 |
| Sodium/iodide symporter mutant V270E causes stunted growth but no cognitive deficiency JP Nicola, A Reyna-Neyra, P Saenger, DF Rodriguez-Buritica, ... The Journal of Clinical Endocrinology & Metabolism 100 (10), E1353-E1361, 2015 | 35 | 2015 |
| Sex‐discordant monochorionic twins with blood and tissue chimerism D Rodriguez‐Buritica, K Rojnueangnit, LM Messiaen, FM Mikhail, ... American Journal of Medical Genetics Part A 167 (4), 872-877, 2015 | 27 | 2015 |
| Overview of genetics of disorders of sexual development D Rodriguez-Buritica Current opinion in pediatrics 27 (6), 675-684, 2015 | 24 | 2015 |
| 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 |
| International tuberous sclerosis complex consensus group. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatr Neurol. 123, 50-66, 2021 | 22 | 2021 |
| Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective … JE Hoover-Fong, KJ Schulze, AY Alade, MB Bober, E Gough, SS Hashmi, ... Orphanet journal of rare diseases 16 (1), 522, 2021 | 19 | 2021 |
| Current genetic counseling practice in the United States following positive non‐invasive prenatal testing for sex chromosome abnormalities L Fleddermann, SS Hashmi, B Stevens, L Murphy, D Rodriguez‐Buritica, ... Journal of genetic counseling 28 (4), 802-811, 2019 | 18 | 2019 |
| Monogenic hypertension in children: a review with emphasis on genetics A Aggarwal, D Rodriguez-Buritica Advances in Chronic Kidney Disease 24 (6), 372-379, 2017 | 16 | 2017 |
| JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome EA Verberne, S Goh, J England, M van Ginkel, L Rafael-Croes, S Maas, ... Genetics in Medicine 23 (2), 374-383, 2021 | 15 | 2021 |
| Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation A Aggarwal, J Nguyen, M Rivera-Davila, D Rodriguez-Buritica European Journal of Medical Genetics 60 (7), 391-394, 2017 | 13 | 2017 |
| A prospective study on continuous glucose monitoring in glycogen storage disease type Ia: toward glycemic targets A Rossi, A Venema, P Haarsma, L Feldbrugge, R Burghard, ... The Journal of Clinical Endocrinology & Metabolism 107 (9), e3612-e3623, 2022 | 11 | 2022 |
| Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability AD Wei, P Wakenight, TA Zwingman, AM Bard, N Sahai, MH Willemsen, ... Journal of neurophysiology 128 (1), 40-61, 2022 | 11 | 2022 |
| The utilization of prenatal microarray: a survey of current genetic counseling practices and barriers L Durham, R Papanna, B Stevens, S Noblin, D Rodriguez‐Buritica, ... Prenatal diagnosis 39 (5), 351-360, 2019 | 11 | 2019 |
