| Wilson's disease and other neurological copper disorders O Bandmann, KH Weiss, SG Kaler The Lancet Neurology 14 (1), 103-113, 2015 | 1087 | 2015 |
| Connecting copper and cancer: from transition metal signalling to metalloplasia EJ Ge, AI Bush, A Casini, PA Cobine, JR Cross, GM DeNicola, QP Dou, ... Nature Reviews Cancer 22 (2), 102-113, 2022 | 900 | 2022 |
| ATP7A-related copper transport diseases—emerging concepts and future trends SG Kaler Nature reviews Neurology 7 (1), 15-29, 2011 | 603 | 2011 |
| Role of copper in human neurological disorders V Desai, SG Kaler The American journal of clinical nutrition 88 (3), 855S-858S, 2008 | 567 | 2008 |
| Neonatal diagnosis and treatment of Menkes disease SG Kaler, CS Holmes, DS Goldstein, J Tang, SC Godwin, A Donsante, ... New England Journal of Medicine 358 (6), 605-614, 2008 | 362 | 2008 |
| Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus SG Kaler, LK Gallo, VK Proud, AK Percy, Y Mark, NA Segal, DS Goldstein, ... Nature genetics 8 (2), 195-202, 1994 | 304 | 1994 |
| Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy ML Kennerson, GA Nicholson, SG Kaler, B Kowalski, JFB Mercer, J Tang, ... The American Journal of Human Genetics 86 (3), 343-352, 2010 | 207 | 2010 |
| Menkes disease SG Kaler Advances in pediatrics 41 (1), 263-304, 1994 | 185 | 1994 |
| Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency SG Kaler The American journal of clinical nutrition 67 (5), 1029S-1034S, 1998 | 183 | 1998 |
| Metabolic and molecular bases of Menkes disease and occipital horn syndrome SG Kaler Pediatric and Developmental Pathology 1, 85-98, 1998 | 162 | 1998 |
| Inborn errors of copper metabolism SG Kaler Handbook of clinical neurology 113, 1745-1754, 2013 | 141 | 2013 |
| Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease SG Kaler, DS Goldstein, C Holmes, JA Salerno, WA Gahl Annals of Neurology: Official Journal of the American Neurological …, 1993 | 111 | 1993 |
| Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin P Huppke, C Brendel, V Kalscheuer, GC Korenke, I Marquardt, ... The American Journal of Human Genetics 90 (1), 61-68, 2012 | 108 | 2012 |
| ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model A Donsante, L Yi, PM Zerfas, LR Brinster, P Sullivan, DS Goldstein, ... Molecular Therapy 19 (12), 2114-2123, 2011 | 96 | 2011 |
| Early copper therapy in classic Menkes disease patients with a novel splicing mutation SG Kaler, NRM Buist, CS Holmes, DS Goldstein, RC Miller, WA Gahl Annals of neurology 38 (6), 921-928, 1995 | 95 | 1995 |
| Swallowing dysfunction in nephropathic cystinosis BC Sonies, EF Ekman, HC Andersson, MD Adamson, SG Kaler, ... New England Journal of Medicine 323 (9), 565-570, 1990 | 91 | 1990 |
| Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletion SG Kaler, S Das, B Levinson, DS Goldstein, CS Holmes, NJ Patronas, ... Biochemical and molecular medicine 57 (1), 37-46, 1996 | 75 | 1996 |
| Hypertrichosis and congenital anomalies associated with maternal use of minoxidil SG KALER, ME PATRINOS, GH LAMBERT, TF MYERS, R KARLMAN, ... Pediatrics 79 (3), 434-436, 1987 | 71 | 1987 |
| Functional copper transport explains neurologic sparing in occipital horn syndrome J Tang, S Robertson, KE Lem, SC Godwin, SG Kaler Genetics in medicine 8 (11), 711-718, 2006 | 69 | 2006 |
| Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype VK Proud, HG Mussell, SG Kaler, DW Young, AK Percy American journal of medical genetics 65 (1), 44-51, 1996 | 69 | 1996 |
