| De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ... The American Journal of Human Genetics 99 (3), 711-719, 2016 | 101 | 2016 |
| FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants D Mitter, M Pringsheim, M Kaulisch, KS Plümacher, S Schröder, ... Genetics in Medicine 20 (1), 98-108, 2018 | 91 | 2018 |
| Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability L Rohena, J Neidich, M Truitt Cho, KDF Gonzalez, S Tang, O Devinsky, ... Rare Diseases 1 (1), e26314, 2013 | 84 | 2013 |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 67 | 2020 |
| A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ... The American Journal of Human Genetics 103 (4), 553-567, 2018 | 61 | 2018 |
| Mutations in ARID2 are associated with intellectual disabilities L Shang, MT Cho, K Retterer, L Folk, J Humberson, L Rohena, A Sidhu, ... Neurogenetics 16, 307-314, 2015 | 61 | 2015 |
| De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females EE Palmer, T Stuhlmann, S Weinert, E Haan, H Van Esch, M Holvoet, ... Molecular psychiatry 23 (2), 222-230, 2018 | 59 | 2018 |
| New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome) L Tuzovic, S Tang, RS Miller, L Rohena, L Shahmirzadi, K Gonzalez, X Li, ... Fetal diagnosis and therapy 38 (4), 296-306, 2015 | 58 | 2015 |
| Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth GM DeStefano, M Kurban, K Anyane-Yeboa, C Dall'Armi, G Di Paolo, ... PLoS genetics 10 (5), e1004333, 2014 | 52 | 2014 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
| Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism H Van Esch, R Colnaghi, K Freson, P Starokadomskyy, A Zankl, L Backx, ... The American Journal of Human Genetics 104 (5), 957-967, 2019 | 35 | 2019 |
| Ebstein anomaly, left ventricular non‐compaction, and early onset heart failure associated with a de novo α‐tropomyosin gene mutation AM Kelle, SJ Bentley, LO Rohena, AK Cabalka, TM Olson American journal of medical genetics Part A 170 (8), 2186-2190, 2016 | 33 | 2016 |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder C Shieh, N Jones, B Vanle, M Au, AY Huang, APG Silva, H Lee, ... Genetics in Medicine 22 (5), 878-888, 2020 | 32* | 2020 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 31 | 2020 |
| Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature D Perez, DT Hsieh, L Rohena American Journal of Medical Genetics Part A 173 (6), 1625-1630, 2017 | 31 | 2017 |
| Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy GL Carvill, KL Helbig, CT Myers, M Scala, R Huether, S Lewis, TN Kruer, ... Human mutation 41 (7), 1263-1279, 2020 | 24 | 2020 |
| Defining the clinical phenotype of Saul–Wilson syndrome CR Ferreira, WM Zein, LA Huryn, A Merker, SI Berger, WG Wilson, ... Genetics in Medicine 22 (5), 857-866, 2020 | 21 | 2020 |
| Early‐onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin NK Antonov, MY Kingsbery, LO Rohena, TM Lee, A Christiano, ... Pediatric dermatology 32 (1), 102-108, 2015 | 21 | 2015 |
| NK cell defects in X-linked pigmentary reticulate disorder P Starokadomskyy, KM Wilton, K Krzewski, A Lopez, ... JCI insight 4 (21), 2019 | 19 | 2019 |
| Three cases of Troyer syndrome in two families of Filipino descent S Butler, KL Helbig, W Alcaraz, LH Seaver, DT Hsieh, L Rohena American Journal of Medical Genetics Part A 170 (7), 1780-1785, 2016 | 18 | 2016 |
