| Practical guidelines for managing patients with 22q11. 2 deletion syndrome AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ... The Journal of pediatrics 159 (2), 332-339. e1, 2011 | 676 | 2011 |
| Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants PS Kishnani, PC Goldenberg, SL DeArmey, J Heller, D Benjamin, ... Molecular genetics and metabolism 99 (1), 26-33, 2010 | 442 | 2010 |
| Expanding the phenotype associated with NAA10 related N-terminal acetylation deficiency Human Mutation, 2016 | 86 | 2016 |
| An update on common chromosome microdeletion and microduplication syndromes P Goldenberg Pediatric annals 47 (5), e198-e203, 2018 | 75 | 2018 |
| Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders SK Kang, CG Vanoye, SN Misra, DM Echevarria, JD Calhoun, ... Annals of neurology 86 (6), 899-912, 2019 | 58 | 2019 |
| Computerized neurocognitive profile in young people with 22q11. 2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis PC Goldenberg, ME Calkins, J Richard, D McDonald‐McGinn, E Zackai, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012 | 47 | 2012 |
| Aortopathy in the 7q11. 23 microduplication syndrome A Parrott, J James, P Goldenberg, RB Hinton, E Miller, A Shikany, ... American Journal of Medical Genetics Part A 167 (2), 363-370, 2015 | 45 | 2015 |
| Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency PC Goldenberg, RD Steiner, LS Merkens, T Dunaway, RA Egan, ... Neurology 60 (5), 865-868, 2003 | 44 | 2003 |
| Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations AE Lin, S Santoro, FA High, P Goldenberg, I Gutmark‐Little American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 28 | 2020 |
| Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients MD Levin, SC Saitta, KW Gripp, TL Wenger, J Ganesh, JM Kalish, ... American Journal of Medical Genetics Part A 176 (8), 1711-1722, 2018 | 28 | 2018 |
| A comprehensive clinical genetics approach to critical congenital heart disease in infancy AR Shikany, BJ Landis, A Parrott, EM Miller, A Coyan, L Walters, ... The Journal of pediatrics 227, 231-238. e14, 2020 | 25 | 2020 |
| Cerebellar cognitive affective syndrome: insights from Joubert syndrome CL Hickey, JC Sherman, P Goldenberg, A Kritzer, P Caruso, ... Cerebellum & Ataxias 5, 1-8, 2018 | 24 | 2018 |
| High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic PC Goldenberg, BJ Adler, A Parrott, J Anixt, K Mason, J Phillips, ... Cardiology in the Young 27 (3), 459-466, 2017 | 15 | 2017 |
| SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia S Srivastava, HM Shaked, K Gable, SD Gupta, X Pan, ... Brain 146 (4), 1420-1435, 2023 | 12 | 2023 |
| Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia MA Lines, P Goldenberg, A Wong, S Srivastava, A Bayat, H Hove, ... American Journal of Medical Genetics Part A 188 (6), 1667-1675, 2022 | 11 | 2022 |
| Evidence‐based medicine and practice guidelines: Application to genetics HV Toriello, P Goldenberg American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2009 | 10 | 2009 |
| Dilated cardiomyopathy in a 32-year-old woman with Russell–Silver syndrome TD Ryan, A Gupta, D Gupta, P Goldenberg, MD Taylor, A Lorts, ... Cardiovascular Pathology 23 (1), 21-27, 2014 | 9 | 2014 |
| Clinical experience with array CGH: Case presentations from nine months of practice AF Poss, PC Goldenberg, CW Rehder, HM Kearney, EC Melvin, ... American Journal of Medical Genetics Part A 140 (19), 2050-2056, 2006 | 9 | 2006 |
| Chronic hepatitis C infection in a rural Medicaid HMO SC Calvert JF, Goldenberg PC Journal of Rural Health 21 (1), 74-8, 2005 | 8 | 2005 |
| Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures A Bayat, M Pendziwiat, E Obersztyn, P Goldenberg, P Zacher, JH Döring, ... Frontiers in genetics 12, 663643, 2021 | 7 | 2021 |
