| Cockayne syndrome: review of 140 cases MA Nance, SA Berry American journal of medical genetics 42 (1), 68-84, 1992 | 945 | 1992 |
| Phenylalanine hydroxylase deficiency: diagnosis and management guideline J Vockley, HC Andersson, KM Antshel, NE Braverman, BK Burton, ... Genetics in medicine 16 (2), 188-200, 2014 | 626 | 2014 |
| Survival after treatment with phenylacetate and benzoate for urea-cycle disorders GM Enns, SA Berry, GT Berry, WJ Rhead, SW Brusilow, A Hamosh New England Journal of Medicine 356 (22), 2282-2292, 2007 | 418 | 2007 |
| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males D Del Gaudio, P Fang, F Scaglia, PA Ward, WJ Craigen, DG Glaze, ... Genetics in Medicine 8 (12), 784-792, 2006 | 299 | 2006 |
| Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: studies in patients with identical mutations ID Wexler, SG Hemalatha, J McConnell, NRM Buist, HHM Dahl, SA Berry, ... Neurology 49 (6), 1655-1661, 1997 | 285 | 1997 |
| CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia G Zhou, Y Chen, L Zhou, K Thirunavukkarasu, J Hecht, D Chitayat, ... Human molecular genetics 8 (12), 2311-2316, 1999 | 263 | 1999 |
| Klippel‐Trenaunay syndrome SA Berry, C Peterson, W Mize, K Bloom, C Zachary, P Blasco, D Hunter American journal of medical genetics 79 (4), 319-326, 1998 | 255 | 1998 |
| Growth hormone regulates the abundance of insulin-like growth factor I RNA in adult rat liver. CT Roberts Jr, AL Brown, DE Graham, S Seelig, S Berry, KH Gabbay, ... Journal of biological chemistry 261 (22), 10025-10028, 1986 | 234 | 1986 |
| Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain RJ Gibbons, S Bachoo, DJ Picketts, S Aftimos, B Asenbauer, JA Bergoffen, ... Nature genetics 17 (2), 146-148, 1997 | 231 | 1997 |
| A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening R Ensenauer, J Vockley, JM Willard, JC Huey, JO Sass, SD Edland, ... The American Journal of Human Genetics 75 (6), 1136-1142, 2004 | 190 | 2004 |
| Health supervision for children with neurofibromatosis type 1 DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ... Pediatrics 143 (5), 2019 | 182 | 2019 |
| Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype PA Gupta, EA Putnam, SG Carmical, I Kaitila, B Steinmann, A Child, ... Human mutation 19 (1), 39-48, 2002 | 167 | 2002 |
| Newborn screening 50 years later: access issues faced by adults with PKU SA Berry, C Brown, M Grant, CL Greene, E Jurecki, J Koch, K Moseley, ... GeNetics in mediciNe 15 (8), 591-599, 2013 | 139 | 2013 |
| Growth Hormone Induction of Hepatic Serine Protease Inhibitor 2.1 Transcription Is Mediated by a Stat5-related Factor Binding Synergistically to Two γ-Activated Sites (∗) PL Bergad, HM Shih, HC Towle, SJ Schwarzenberg, SA Berry Journal of Biological Chemistry 270 (42), 24903-24910, 1995 | 131 | 1995 |
| Jarcho‐Levin syndrome: Four new cases and classification of subtypes PS Karnes, D Day, SA Berry, MEM Pierpont American journal of medical genetics 40 (3), 264-270, 1991 | 127 | 1991 |
| An inducible nuclear factor binds to a growth hormone-regulated gene. JB Yoon, SA Berry, S Seelig, HC Towle Journal of biological chemistry 265 (32), 19947-19954, 1990 | 125 | 1990 |
| Expanded newborn screening identifies maternal primary carnitine deficiency LA Schimmenti, EA Crombez, BC Schwahn, BA Heese, TC Wood, ... Molecular genetics and metabolism 90 (4), 441-445, 2007 | 122 | 2007 |
| Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control B Lee, W Rhead, GA Diaz, BF Scharschmidt, A Mian, O Shchelochkov, ... Molecular genetics and metabolism 100 (3), 221-228, 2010 | 121 | 2010 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 120 | 2013 |
| Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria JL Sloan, JJ Johnston, I Manoli, RJ Chandler, C Krause, ... Nature genetics 43 (9), 883-886, 2011 | 119 | 2011 |
