| Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis P Mill, PJ Lockhart, E Fitzpatrick, HS Mountford, EA Hall, MAM Reijns, ... The American Journal of Human Genetics 88 (4), 508-515, 2011 | 147 | 2011 |
| ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ... Brain 140 (6), 1595-1610, 2017 | 135 | 2017 |
| Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression EJ Tucker, BFJ Wanschers, R Szklarczyk, HS Mountford, XW Wijeyeratne, ... PLoS genetics 9 (12), e1004034, 2013 | 132 | 2013 |
| Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ... The American Journal of Human Genetics 101 (2), 239-254, 2017 | 119 | 2017 |
| COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 DA Stroud, MJ Maher, C Lindau, FN Vögtle, AE Frazier, E Surgenor, ... Human molecular genetics 24 (19), 5404-5415, 2015 | 107 | 2015 |
| Genetic map construction and QTL mapping of resistance to blackleg (Leptosphaeria maculans) disease in Australian canola (Brassica napus L.) cultivars S Kaur, NOI Cogan, G Ye, RC Baillie, ML Hand, AE Ling, AK Mcgearey, ... Theoretical and applied genetics 120, 71-83, 2009 | 92 | 2009 |
| Sixteen new simple sequence repeat markers from Brassica juncea expressed sequences and their cross‐species amplification CJ Hopkins, NOI Cogan, M Hand, E Jewell, J Kaur, XI Li, GAC Lim, ... Molecular Ecology Notes 7 (4), 697-700, 2007 | 51 | 2007 |
| HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV DH Hock, B Reljic, CS Ang, L Muellner-Wong, HS Mountford, ... Molecular & Cellular Proteomics 19 (7), 1145-1160, 2020 | 50 | 2020 |
| Identification and characterization of simple sequence repeat markers from Brassica napus expressed sequences J Batley, CJ Hopkins, NOI Cogan, M Hand, E Jewell, J Kaur, S Kaur, XI Li, ... Molecular Ecology Notes 7 (5), 886-889, 2007 | 48 | 2007 |
| Identification and characterization of simple sequence repeat (SSR) markers derived in silico from Brassica oleracea genome shotgun sequences B Burgess, H Mountford, CJ Hopkins, C Love, AE Ling, GC Spangenberg, ... Molecular Ecology Notes 6 (4), 1191-1194, 2006 | 47 | 2006 |
| Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review DA Mordaunt, A Jolley, S Balasubramaniam, DR Thorburn, HS Mountford, ... American Journal of Medical Genetics Part A 167 (6), 1330-1336, 2015 | 43 | 2015 |
| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ... The American Journal of Human Genetics 108 (2), 346-356, 2021 | 40 | 2021 |
| The genetic and molecular basis of developmental language disorder: A review HS Mountford, R Braden, DF Newbury, AT Morgan Children 9 (5), 586, 2022 | 34 | 2022 |
| De novo 325 kb microdeletion in chromosome band 10q25. 3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features Z Stark, DL Bruno, H Mountford, PJ Lockhart, DJ Amor European journal of medical genetics 53 (5), 337-339, 2010 | 23 | 2010 |
| Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency JCH Sim, SM White, E Fitzpatrick, GR Wilson, G Gillies, K Pope, ... Orphanet journal of rare diseases 9, 1-8, 2014 | 21 | 2014 |
| Genome-wide association study of motor coordination HS Mountford, A Hill, AL Barnett, DF Newbury Frontiers in Human Neuroscience 15, 669902, 2021 | 18 | 2021 |
| The genomic landscape of language: Insights into evolution HS Mountford, DF Newbury Journal of Language Evolution 3 (1), 49-58, 2018 | 17 | 2018 |
| Isolation and characterization of 102 new microsatellite loci in Murray cod, Maccullochella peelii peelii (Percichthyidae), and assessment of cross‐amplification in … M Rourke, J Nheu, H Mountford, J Lade, B Ingram, H McPartlan Molecular Ecology Notes 7 (6), 1258-1264, 2007 | 16 | 2007 |
| Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes PA Perrino, L Talbot, R Kirkland, A Hill, AR Rendall, HS Mountford, ... Communications Biology 3 (1), 180, 2020 | 10 | 2020 |
| Candidate gene variant effects on language disorders in Robinson Crusoe Island HS Mountford, P Villanueva, MA Fernández, ZD Barbieri, JB Cazier, ... Annals of human biology 46 (2), 109-119, 2019 | 9 | 2019 |
david thorburnmurdoch children's research institute在 mcri.edu.au 的电子邮件经过验证
