| 15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma–paraganglioma syndromes characterized by germline SDHB and SDHD mutations BE Baysal, ER Maher Endocrine-Related Cancer 22 (4), T71-T82, 2015 | 65 | 2015 |
| 17q21. 31 microdeletion syndrome: further expanding the clinical phenotype FH Sharkey, N Morrison, R Murray, J Iremonger, J Stephen, E Maher, ... Cytogenetic and genome research 127 (1), 61-66, 2010 | 30 | 2010 |
| 2.3 Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound SC Hillman, K Carss, D McMullan, V Parthiban, E Maher, M Kilby, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 99 (Suppl 1), A1-A1, 2014 | | 2014 |
| 2022 WUOF/SIU International Consultation on Urological Diseases: Hereditary Renal Cell Carcinoma Syndromes JK Maranchie, BM Shuch, G Bratslavsky, ER Maher Société Internationale d’Urologie Journal 3 (6), 397-406, 2022 | 1 | 2022 |
| 2TT, UK. VK Hill, C Ricketts, I Bieche, S Vacher, D Gentle, C Lewis, ER Maher, ... | | |
| 399 A novel association of ichthyosis with the GJP2 mutation p. Ser139Asn responsive to ixekizumab therapy I Gandhi, O Dean, K Lenhart, K Gaddis, E Maher, B Schultz Journal of Investigative Dermatology 144 (8), S69, 2024 | | 2024 |
| 66.1. 1 Wilms’ Tumor ER Maher Emery and Rimoin's Essential Medical Genetics, 259, 2013 | | 2013 |
| A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery RT Casey, BG Challis, A Marker, D Pitfield, HK Cheow, A Shaw, SM Park, ... Endocrine-Related Cancer 24 (8), L69-L71, 2017 | 11 | 2017 |
| A clinical and genetic analysis of multiple primary cancer referrals to genetics services J Whitworth, J Hoffman, C Chapman, KR Ong, F Lalloo, DG Evans, ... European Journal of Human Genetics 23 (5), 581-587, 2015 | 34 | 2015 |
| A clinical and molecular genetic analysis of solitary ocular angioma AR Webster, ER Maher, AC Bird, ZJ Gregor, AT Moore Ophthalmology 106 (3), 623-629, 1999 | 76 | 1999 |
| A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma MA Reddy, PJ Francis, V Berry, K Bradshaw, RJ Patel, ER Maher, ... British journal of ophthalmology 87 (2), 197-202, 2003 | 58 | 2003 |
| A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease NV Morgan, JL Hartley, KDR Setchell, MA Simpson, R Brown, L Tee, ... Orphanet Journal of Rare Diseases 8, 1-5, 2013 | 26 | 2013 |
| A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer NJ Froggatt, J Green, C Brassett, DGR Evans, DT Bishop, R Kolodner, ... Journal of medical genetics 36 (2), 97-102, 1999 | 128 | 1999 |
| A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect VN Baş, Z Aycan, H Cangul, M Kendall, SY Ağladıoğlu, S Çetinkaya, ... Journal of Pediatric Endocrinology and Metabolism 27 (3-4), 383-387, 2014 | 18 | 2014 |
| A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism N Schoenmakers, H Cangul, AK Nicholas, E Schoenmakers, G Lyons, ... Endocrine Abstracts 33, 2013 | 11 | 2013 |
| A comprehensive next generation sequencing–based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma E Rattenberry, L Vialard, A Yeung, H Bair, K McKay, M Jafri, N Canham, ... The Journal of Clinical Endocrinology & Metabolism 98 (7), E1248-E1256, 2013 | 108 | 2013 |
| A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism H Cangul, NA Schoenmakers, H Saglam, D Doganlar, Y Saglam, E Eren, ... Journal of Pediatric Endocrinology and Metabolism 27 (7-8), 731-735, 2014 | 13 | 2014 |
| A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals VM Narasimhan, R Rahbari, A Scally, A Wuster, D Mason, Y Xue, J Wright, ... bioRxiv, 059436, 2016 | 13 | 2016 |
| A family with co-existing SDHB and SDHD mutations causing hereditary paraganglioma syndrome D Cilliers, SM Park, S Kenwrick, H Simpson, K Sarson, F Lalloo, L Bradley, ... JOURNAL OF MEDICAL GENETICS 48, S74-S74, 2011 | | 2011 |
| A Family with Co-existing SDHB and SDHD Mutations Causing Hereditary Paraganglioma Syndrome D Cilliers, SM Park, K Sarson, S Kenwrick, H Simpson, L Bradley, F Lalloo, ... American Journal of Cancer Case Reports 1 (1), 21-27, 2013 | 2 | 2013 |
