| Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States KS Au, AT Williams, ES Roach, L Batchelor, SP Sparagana, MR Delgado, ... Genetics in Medicine 9 (2), 88-100, 2007 | 494 | 2007 |
| Epidemiologic and genetic aspects of spina bifida and other neural tube defects KS Au, A Ashley‐Koch, H Northrup Developmental disabilities research reviews 16 (1), 6-15, 2010 | 452 | 2010 |
| Tuberous sclerosis complex H Northrup, MK Koenig, DA Pearson, KS Au | 228 | 2021 |
| Receptor activity of rotavirus nonstructural glycoprotein NS28 KS Au, WK Chan, JW Burns, MK Estes Journal of virology 63 (11), 4553-4562, 1989 | 216 | 1989 |
| Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations P Kozlowski, P Roberts, S Dabora, D Franz, J Bissler, H Northrup, KS Au, ... Human genetics 121, 389-400, 2007 | 214 | 2007 |
| The genomic landscape of tuberous sclerosis complex KR Martin, W Zhou, MJ Bowman, J Shih, KS Au, KE Dittenhafer-Reed, ... Nature communications 8 (1), 15816, 2017 | 208 | 2017 |
| Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis A Astrinidis, L Khare, T Carsillo, T Smolarek, KS Au, H Northrup, ... Journal of medical genetics 37 (1), 55-57, 2000 | 149 | 2000 |
| Molecular genetic basis of tuberous sclerosis complex: from bench to bedside KS Au, AT Williams, MJ Gambello, H Northrup Journal of child neurology 19 (9), 699-709, 2004 | 140 | 2004 |
| Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients KS Au, JA Rodriguez, JL Finch, KA Volcik, ES Roach, MR Delgado, ... The American Journal of Human Genetics 62 (2), 286-294, 1998 | 133 | 1998 |
| A subviral particle binding domain on the rotavirus nonstructural glycoprotein NS28 KS Au, NM Mattion, MK Estes Virology 194 (2), 665-673, 1993 | 131 | 1993 |
| Germ-line mosaicism in tuberous sclerosis: how common? VM Rose, KS Au, G Pollom, ES Roach, HR Prashner, H Northrup The American Journal of Human Genetics 64 (4), 986-992, 1999 | 127 | 1999 |
| Clinical electroencephalographic biomarker for impending epilepsy in asymptomatic tuberous sclerosis complex infants JY Wu, JM Peters, M Goyal, D Krueger, M Sahin, H Northrup, KS Au, ... Pediatric neurology 54, 29-34, 2016 | 123 | 2016 |
| Presentation and diagnosis of tuberous sclerosis complex in infants PE Davis, R Filip-Dhima, G Sideridis, JM Peters, KS Au, H Northrup, ... Pediatrics 140 (6), 2017 | 112 | 2017 |
| Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice A Peron, KS Au, H Northrup American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018 | 99 | 2018 |
| Complete inactivation of the TSC2 gene leads to formation of hamartomas KS Au, AA Hebert, ES Roach, H Northrup The American Journal of Human Genetics 65 (6), 1790-1794, 1999 | 95 | 1999 |
| Topography of the simian rotavirus nonstructural glycoprotein (NS28) in the endoplasmic reticulum membrane WK Chan, KS Au, MK Estes Virology 164 (2), 435-442, 1988 | 81 | 1988 |
| Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets MD Ruppe, PG Brosnan, KS Au, PX Tran, BW Dominguez, H Northrup Clinical endocrinology 74 (3), 312-318, 2011 | 73 | 2011 |
| Genes in glucose metabolism and association with spina bifida CM Davidson, H Northrup, TM King, JM Fletcher, I Townsend, ... Reproductive sciences 15 (1), 51-58, 2008 | 65 | 2008 |
| Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida CA Martinez, H Northrup, JI Lin, AC Morrison, JM Fletcher, GH Tyerman, ... American journal of obstetrics and gynecology 201 (4), 394. e1-394. e11, 2009 | 64 | 2009 |
| On the surgical treatment of refractory epilepsy in tuberous sclerosis complex JE Baumgartner, JW Wheless, S Kulkarni, H Northrup, KS Au, A Smith, ... Pediatric neurosurgery 27 (6), 311-318, 1997 | 61 | 1997 |
