| Fabry's disease YA Zarate, RJ Hopkin The Lancet 372 (9647), 1427-1435, 2008 | 792 | 2008 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 116 | 2021 |
| SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations YA Zarate, JL Fish American Journal of Medical Genetics Part A 173 (2), 327-337, 2017 | 99 | 2017 |
| Arterial tortuosity syndrome: 40 new families and literature review A Beyens, J Albuisson, A Boel, M Al-Essa, W Al-Manea, D Bonnet, ... Genetics in Medicine 20 (10), 1236-1245, 2018 | 95 | 2018 |
| Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol YA Zarate, R Mena, LJ Martin, P Steele, BT Tinkle, RJ Hopkin American Journal of Medical Genetics Part A 149 (8), 1691-1697, 2009 | 71 | 2009 |
| Redefining the etiologic landscape of cerebellar malformations KA Aldinger, AE Timms, Z Thomson, GM Mirzaa, JT Bennett, ... The American Journal of Human Genetics 105 (3), 606-615, 2019 | 66 | 2019 |
| Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing YA Zarate, H Perry, T Ben‐Omran, EA Sellars, Q Stein, M Almureikhi, ... American Journal of Medical Genetics Part A 167 (5), 1026-1032, 2015 | 61 | 2015 |
| Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ... American Journal of Medical Genetics Part A 176 (4), 925-935, 2018 | 57 | 2018 |
| Genetic causes of macroglossia: diagnostic approach CE Prada, YA Zarate, RJ Hopkin Pediatrics 129 (2), e431-e437, 2012 | 53 | 2012 |
| Evaluation of growth in patients with isolated cleft lip and/or cleft palate YA Zarate, LJ Martin, RJ Hopkin, PL Bender, X Zhang, HM Saal Pediatrics 125 (3), e543-e549, 2010 | 53 | 2010 |
| Mutation update for the SATB2 gene YA Zarate, KA Bosanko, AR Caffrey, JA Bernstein, DM Martin, ... Human mutation 40 (8), 1013-1029, 2019 | 46 | 2019 |
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns H Stamberger, TB Hammer, E Gardella, DRM Vlaskamp, B Bertelsen, ... Genetics in Medicine 23 (2), 363-373, 2021 | 43 | 2021 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 43 | 2019 |
| Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome YA Zarate, L Kalsner, A Basinger, JR Jones, C Li, M Szybowska, ZL Xu, ... Clinical genetics 92 (4), 423-429, 2017 | 42 | 2017 |
| MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 39 | 2020 |
| Lessons from a pair of siblings with BPAN YA Zarate, JR Jones, MA Jones, F Millan, J Juusola, A Vertino-Bell, ... European Journal of Human Genetics 24 (7), 1080-1083, 2016 | 37 | 2016 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
| De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism AJ Tanaka, MT Cho, R Willaert, K Retterer, YA Zarate, K Bosanko, ... Molecular Case Studies 3 (6), a002097, 2017 | 34 | 2017 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... Neurogenetics 19, 93-103, 2018 | 32 | 2018 |
| SATB2-associated syndrome YA Zarate, J Kaylor, J Fish | 30 | 2017 |
