Professor of Molecular Genetics at the Institute of Child Health, UCL. Research interests mapping and identifying genes. Projects in birth defects, particularly craniofacial and myelin disorders.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Duncan AJ, Bitner-Glindzicz M, …, Clayton PT, Rahman S Am J Hum Genet 2009 May 84(5):558-66 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 22 May 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Tarpey PS, Smith R, …, Futreal PA, Stratton MR Nat Genet 2009 May 41(5):535-43 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Monica Justice / R Frank Kooy / Isaac Kohane / Sue Malcolm Evaluated 18 May 2009 Midlife coffee and tea drinking and the risk of late-life dementia: a population-based CAIDE study. Eskelinen MH, Ngandu T, …, Soininen H, Kivipelto M J Alzheimers Dis 2009 Jan 16(1):85-91 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Paula Moreira and George Perry / Sayeda Abu-Amero and Sue Malcolm Evaluated 18 May 2009 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Birnbaum S, Ludwig KU, …, Nöthen MM, Mangold E Nat Genet 2009 Apr 41(4):473-7 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Terri Beaty / Sue Malcolm Evaluated 29 Apr 2009 FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion. Harada M, Murakami H, …, Ornitz DM, Koseki H Nat Genet 2009 Mar 41(3):289-98 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Clemens Kiecker and Andrew Lumsden / Sayeda Abu-Amero and Sue Malcolm Evaluated 3 Apr 2009 Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation. Shiura H, Nakamura K, …, Kaneko-Ishino T, Ishino F Hum Mol Genet 2009 Jan 27 18 [abstract on PubMed] [related articles] [full text] Selected by | Sayeda Abu-Amero and Sue Malcolm Evaluated 3 Apr 2009 Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Barel O, Shalev SA, …, Zilberberg N, Birk OS Am J Hum Genet 2008 Aug 83(2):193-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Giovanni Neri / Sayeda Abu-Amero and Sue Malcolm Evaluated 11 Feb 2009 A functional genetic link between distinct developmental language disorders. Vernes SC, Newbury DF, …, Monaco AP, Fisher SE N Engl J Med 2008 Nov 27 359(22):2337-45 [abstract on PubMed] [related articles] [FREE full text] Selected by | Isaac Kohane / Sayeda Abu-Amero and Sue Malcolm Evaluated 9 Jan 2009 Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Mackay DJ, Callaway JL, …, Robinson DO, Temple IK Nat Genet 2008 Aug 40(8):949-51 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Wolf Reik / Andrew Wilkie / Dr Sayeda Abu-Amero and Sue Malcolm Evaluated 22 Oct 2008 Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Li J, Wang L, …, Berbeco R, Makrigiorgos GM Nat Med 2008 May 14(5):579-84 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 19 Sep 2008 Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Guo L, Choufani S, …, Kingdom J, Weksberg R Dev Biol 2008 Aug 1 320(1):79-91 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sayeda Abu-Amero and Sue Malcolm Evaluated 10 Sep 2008 Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Fritsche LG, Loenhardt T, …, Keilhauer CN, Weber BH Nat Genet 2008 Jul 40(7):892-6 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 29 Jul 2008 Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Walsh T, McClellan JM, …, King MC, Sebat J Science 2008 Apr 25 320(5875):539-43 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Jonathan Flint / Gordon Fishell / Michael Owen / Guoping Feng / Sue Malcolm Evaluated 20 May 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Ji W, Foo JN, …, Levy D, Lifton RP Nat Genet 2008 May 40(5):592-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / Heimo Ehmke / John Mullins Evaluated 2 May 2008 FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Fantes JA, Boland E, …, Fitzpatrick DR, Black GC Am J Hum Genet 2008 Apr 82(4):916-26 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 21 Apr 2008 Association between Microdeletion and Microduplication at 16p11.2 and Autism. Weiss LA, Shen Y, …, Daly MJ, the Autism Consortium N Engl J Med 2008 Jan 9 [abstract on PubMed] [related articles] [FREE full text] Selected by | Stephen Scherer / Sue Malcolm Evaluated 7 Feb 2008 Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. Andrieux J, Villenet C, …, Vekemans M, Kerckaert JP J Med Genet 2007 Aug 44(8):537-40 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 15 Jan 2008 Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. Zahir F, Firth HV, …, Marra MA, Friedman JM J Med Genet 2007 Sep 44(9):556-61 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 15 Jan 2008 A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. Matos TD, Caria H, …, Kelsell DP, Fialho G J Med Genet 2007 Nov 44(11):721-5 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 19 Dec 2007 Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Ballif BC, Hornor SA, …, Bejjani BA, Shaffer LG Nat Genet 2007 Sep 39(9):1071-3 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 9 Oct 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Beales PL, Bland E, …, Tada M, Scambler PJ Nat Genet 2007 Jun 39(6):727-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Jane Hewitt / Sue Malcolm Evaluated 3 Jul 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium Nature 2007 Jun 7 447(7145):661-78 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Martin Humphries / Sue Malcolm / Bruno Stieger / David Brook Evaluated 14 Jun 2007 A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Frayling TM, Timpson NJ, …, Hattersley AT, McCarthy MI Science 2007 May 11 316(5826):889-94 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / Ulf Pettersson Evaluated 15 May 2007 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Sandilands A, Terron-Kwiatkowski A, …, McLean WH, Irvine AD Nat Genet 2007 May 39(5):650-4 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 4 May 2007 A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Duffy DL, Montgomery GW, …, Martin NG, Sturm RA Am J Hum Genet 2007 Feb 80(2):241-52 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 26 Apr 2007 Inheritance of a cancer-associated MLH1 germ-line epimutation. Hitchins MP, Wong JJ, …, Hawkins NJ, Ward RL N Engl J Med 2007 Feb 15 356(7):697-705 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Stephen Elledge Evaluated 18 Apr 2007 A genome-wide association study identifies novel risk loci for type 2 diabetes. Sladek R, Rocheleau G, …, Polychronakos C, Froguel P Nature 2007 Feb 22 445(7130):881-5 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Paul Lyons / Sue Malcolm / Tony Long Evaluated 10 Apr 2007 A "silent" polymorphism in the MDR1 gene changes substrate specificity. Kimchi-Sarfaty C, Oh JM, …, Ambudkar SV, Gottesman MM Science 2007 Jan 26 315(5811):525-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | J Steven Leeder / Michael Roth / Richard Maraia / Sue Malcolm / William Dalton / Paul Hollenberg / Tao Pan Evaluated 5 Apr 2007 GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence. Tegeder I, Costigan M, …, Max MB, Woolf CJ Nat Med 2006 Nov 12(11):1269-77 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 8 Feb 2007 A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Hughes AE, Orr N, …, Goodship T, Chakravarthy U Nat Genet 2006 Oct 38(10):1173-7 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Yasushi Okazaki / Sue Malcolm Evaluated 7 Feb 2007 Lamin B1 duplications cause autosomal dominant leukodystrophy. Padiath QS, Saigoh K, …, Ptácek LJ, Fu YH Nat Genet 2006 Oct 38(10):1114-23 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Yosef Gruenbaum / Sue Malcolm Evaluated 6 Dec 2006 Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Seal S, Thompson D, …, Stratton MR, Rahman N Nat Genet 2006 Nov 38(11):1239-41 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 16 Nov 2006 Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Zhou H, Brockington M, …, Moore GE, Muntoni F Am J Hum Genet 2006 Nov 79(5):859-68 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 1 Nov 2006 SUMO1 haploinsufficiency leads to cleft lip and palate. Alkuraya FS, Saadi I, …, Morton CC, Maas RL Science 2006 Sep 22 313(5794):1751 [abstract on PubMed] [related articles] [FREE full text] Selected by | Terri Beaty / Sue Malcolm / Richard L. Stevens Evaluated 10 Oct 2006 A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Koolen DA, Vissers LE, …, Brunner HG, de Vries BB Nat Genet 2006 Sep 38(9):999-1001 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 25 Sep 2006 Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Sharp AJ, Hansen S, …, Knight SJ, Eichler EE Nat Genet 2006 Sep 38(9):1038-42 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 22 Sep 2006 High incidence of later-onset fabry disease revealed by newborn screening. Spada M, Pagliardini S, …, Ponzone A, Desnick RJ Am J Hum Genet 2006 Jul 79(1):31-40 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 8 Aug 2006 A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. De Gobbi M, Viprakasit V, …, Bowden D, Higgs DR Science 2006 May 26 312(5777):1215-7 [abstract on PubMed] [related articles] [FREE full text] Selected by | Jonathan Flint / Sue Malcolm Evaluated 21 Jul 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. Walsh T, Casadei S, …, Soucek P, King MC JAMA 2006 Mar 22 295(12):1379-88 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 24 Apr 2006 Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Pagenstecher C, Wehner M, …, Propping P, Mangold E Hum Genet 2006 Mar 119(1-2):9-22 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 5 Apr 2006 Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Aitman TJ, Dong R, …, Pusey CD, Cook HT Nature 2006 Feb 16 439(7078):851-5 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Manuel Serrano / Gerardo Gamba / Ian Dunham / Sue Malcolm Evaluated 5 Apr 2006 Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Bendavid C, Dubourg C, …, Odent S, David V Hum Genet 2006 Mar 119(1-2):1-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 14 Mar 2006 Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Khajavi M, Inoue K, …, Snipes GJ, Lupski JR Am J Hum Genet 2005 Nov 77(5):841-50 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 20 Feb 2006 APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Rovelet-Lecrux A, Hannequin D, …, Frebourg T, Campion D Nat Genet 2006 Jan 38(1):24-6 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 15 Feb 2006 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Nishimura DY, Swiderski RE, …, Stone EM, Sheffield VC Am J Hum Genet 2005 Dec 77(6):1021-33 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 20 Jan 2006 Initial sequence of the chimpanzee genome and comparison with the human genome. Chimpanzee Sequencing and Analysis Consortium Nature 2005 Sep 1 437(7055):69-87 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Chris Ponting / Robert Sapolsky / Sue Malcolm Evaluated 17 Jan 2006 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Van Esch H, Bauters M, …, Fryns JP, Froyen G Am J Hum Genet 2005 Sep 77(3):442-53 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 13 Jan 2006 GTF2IRD1 in craniofacial development of humans and mice. Tassabehji M, Hammond P, …, Maconochie M, Donnai D Science 2005 Nov 18 310(5751):1184-7 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Dec 2005 DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Millar JK, Pickard BS, …, Muir WJ, Porteous DJ Science 2005 Nov 18 310(5751):1187-91 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Angus Nairn Evaluated 7 Dec 2005 Reciprocal translocations: a trap for cytogenetists? Ciccone R, Giorda R, …, Zuffardi O, Rossi E Hum Genet 2005 Oct 117(6):571-82 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 18 Nov 2005 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Hutchin T, Coy NN, …, Bitner-Glindzicz M, Mueller R Clin Genet 2005 Dec 68(6):506-12 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 18 Nov 2005 Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Gribouval O, Gonzales M, …, Antignac C, Gubler MC Nat Genet 2005 Sep 37(9):964-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Gregory Dressler / Sue Malcolm Evaluated 13 Oct 2005 Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Sun T, Patoine C, …, Geschwind DH, Walsh CA Science 2005 Jun 17 308(5729):1794-8 [abstract on PubMed] [related articles] [FREE full text] Selected by | John Rubenstein / Sue Malcolm / Oliver Hobert Evaluated 29 Jun 2005 Fine-scale structural variation of the human genome. Tuzun E, Sharp AJ, …, Olson MV, Eichler EE Nat Genet 2005 Jul 37(7):727-32 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Stephen Scherer / Sue Malcolm / Karin Schmitt / Ulf Pettersson / Barbara Trask / Tony Long Evaluated 29 Jun 2005 A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Winn MP, Conlon PJ, …, Vance JM, Rosenberg PB Science 2005 Jun 17 308(5729):1801-4 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Gerardo Gamba Evaluated 29 Jun 2005 Natural antisense transcripts associated with genes involved in eye development. Alfano G, Vitiello C, …, Auricchio A, Banfi S Hum Mol Genet 2005 Apr 1 14(7):913-23 [abstract on PubMed] [related articles] [FREE full text] Selected by | Veronica van Heyningen / Sue Malcolm Evaluated 18 May 2005 Relapsing diabetes can result from moderately activating mutations in KCNJ11. Gloyn AL, Reimann F, …, Gribble FM, Hattersley AT Hum Mol Genet 2005 Apr 1 14(7):925-34 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 12 May 2005 Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Barber JC, Thomas NS, …, Krag-Olsen B, Lundsteen C Eur J Hum Genet 2005 Mar 13(3):283-91 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 3 May 2005 Complement factor H polymorphism in age-related macular degeneration. Klein RJ, Zeiss C, …, Barnstable C, Hoh J Science 2005 Apr 15 308(5720):385-9 [abstract on PubMed] [related articles] [FREE full text] Selected by | Victor Reus / Darryl Nishimura / Terri Beaty / Sue Malcolm / Richard L. Stevens Evaluated 27 Apr 2005 The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Gribble SM, Prigmore E, …, Crolla JA, Carter NP J Med Genet 2005 Jan 42(1):8-16 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 21 Feb 2005 Detection of aneuploidies by paralogous sequence quantification. Deutsch S, Choudhury U, …, Sylvan A, Antonarakis SE J Med Genet 2004 Dec 41(12):908-15 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 25 Jan 2005 Birth and adaptive evolution of a hominoid gene that supports high neurotransmitter flux. Burki F, Kaessmann H Nat Genet 2004 Oct 36(10):1061-3 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 9 Nov 2004 Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Mendell JT, Sharifi NA, …, Martinez-Murillo F, Dietz HC Nat Genet 2004 Oct 36(10):1073-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Lynne Maquat / Michael O'Donovan / Sue Malcolm Evaluated 9 Nov 2004 Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Tarpey P, Parnau J, …, Wooster R, Raymond FL Am J Hum Genet 2004 Aug 75(2):318-24 [abstract on PubMed] [related articles] [FREE full text] Selected by | Guoping Feng / Sue Malcolm Evaluated 28 Sep 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Vissers LE, van Ravenswaaij CM, …, Veltman JA, van Kessel AG Nat Genet 2004 Sep 36(9):955-7 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Peter Scambler / Andrew Wilkie / Sue Malcolm Evaluated 27 Sep 2004 Heterozygous TGFBR2 mutations in Marfan syndrome. Mizuguchi T, Collod-Beroud G, …, Boileau C, Matsumoto N Nat Genet 2004 Aug 36(8):855-60 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / Kristina Downing / Peter Scambler Evaluated 16 Jul 2004 TBX22 mutations are a frequent cause of cleft palate. Marçano AC, Doudney K, …, Moore GE, Stanier P J Med Genet 2004 Jan 41(1):68-74 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 1 Jun 2004 Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. Garcia CC, Blair HJ, …, Curtis A, Goodship JA J Med Genet 2004 Mar 41(3):183-6 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 28 May 2004 Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Egan ME, Pearson M, …, Lukacs GL, Caplan MJ Science 2004 Apr 23 304(5670):600-2 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Charles Coutelle / William H Colledge / Gerald Pier Evaluated 18 May 2004 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Wieland I, Jakubiczka S, …, Adams RH, Wieacker P Am J Hum Genet 2004 Jun 74(6):1209-15 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 18 May 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Inoue K, Khajavi M, …, Wegner M, Lupski JR Nat Genet 2004 Apr 36(4):361-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Michael O'Donovan / Jonathan Flint / Sue Malcolm / Pui-Yan Kwok Evaluated 13 May 2004 A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Mnatzakanian GN, Lohi H, …, Vincent JB, Minassian BA Nat Genet 2004 Apr 36(4):339-41 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 11 May 2004 Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. van Wijk E, Pennings RJ, …, Cremers CW, Kremer H Am J Hum Genet 2004 Apr 74(4):738-44 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Apr 2004 Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Jacquemont S, Hagerman RJ, …, Tassone F, Hagerman PJ Am J Hum Genet 2003 Apr 72(4):869-78 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Apr 2004 Genomic imbalances in mental retardation. Kriek M, White SJ, …, den Dunnen JT, Breuning MH J Med Genet 2004 Apr 41(4):249-55 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Apr 2004 Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Lammi L, Arte S, …, Pirinen S, Nieminen P Am J Hum Genet 2004 May 74(5):1043-50 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Apr 2004 Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Vissers LE, de Vries BB, …, Schoenmakers EF, Veltman JA Am J Hum Genet 2003 Dec 73(6):1261-70 [abstract on PubMed] [related articles] [FREE full text] Selected by | Michael O'Donovan / Sue Malcolm Evaluated 12 Feb 2004 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer VM, Freude K, …, Schweiger S, Ropers HH Nat Genet 2003 Dec 35(4):313-5 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Giovanni Neri / Sue Malcolm Evaluated 13 Jan 2004 Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. van Overveld PG, Lemmers RJ, …, Frants RR, van der Maarel SM Nat Genet 2003 Dec 35(4):315-7 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 13 Jan 2004 Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Wang L, Fan C, …, Topol EJ, Wang Q Science 2003 Nov 28 302(5650):1578-81 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Andrew D. Sharrocks Evaluated 13 Jan 2004 Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group Science 2003 Oct 24 302(5645):643-6 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 13 Jan 2004 alpha-Synuclein locus triplication causes Parkinson's disease. Singleton AB, Farrer M, …, Hardy J, Gwinn-Hardy K Science 2003 Oct 31 302(5646):841 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Vicky Brandt Evaluated 16 Dec 2003 Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Varon R, Gooding R, …, Risch N, Kalaydjieva L Nat Genet 2003 Oct 35(2):185-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 23 Oct 2003 Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Ward CJ, Yuan D, …, Torres VE, Harris PC Hum Mol Genet 2003 Oct 15 12(20):2703-10 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / George Witman Evaluated 21 Oct 2003 Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Horsthemke B, Nazlican H, …, Gillessen-Kaesbach G, Buiting K Hum Mol Genet 2003 Oct 15 12(20):2723-32 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 21 Oct 2003 ACTN3 genotype is associated with human elite athletic performance. Yang N, MacArthur DG, …, Easteal S, North K Am J Hum Genet 2003 Sep 73(3):627-31 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 21 Oct 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto EA, Schermer B, …, Benzing T, Hildebrandt F Nat Genet 2003 Aug 34(4):413-20 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 12 Aug 2003 Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Montagna M, Dalla Palma M, …, Chieco-Bianchi L, D'Andrea E Hum Mol Genet 2003 May 1 12(9):1055-61 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 7 Jul 2003 Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Tuffery-Giraud S, Saquet C, Chambert S, Claustres M Hum Mutat 2003 Jun 21(6):608-14 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 25 Jun 2003 In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Gicquel C, Gaston V, …, Flahault A, Le Bouc Y Am J Hum Genet 2003 May 72(5):1338-41 [abstract on PubMed] [related articles] [order article] Selected by | Sue Malcolm / Eamonn Maher Evaluated 20 May 2003 Mutations in SOX2 cause anophthalmia. Fantes J, Ragge NK, …, van Heyningen V, FitzPatrick DR Nat Genet 2003 Apr 33(4):461-3 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 29 Apr 2003 A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll M, Ruiz-Perez VL, …, Jeggo PA, Goodship JA Nat Genet 2003 Apr 33(4):497-501 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / Ashok Venkitaraman Evaluated 28 Apr 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Robertson SP, Twigg SR, …, Wilkie AO, OPD-spectrum Disorders Clinical Collaborative Group Nat Genet 2003 Apr 33(4):487-91 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Peter Scambler / Sue Malcolm Evaluated 28 Apr 2003 Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. Hauser MA, Li YJ, …, Dietrich F, Vance J Hum Mol Genet 2003 Mar 15 12(6):671-7 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 3 Apr 2003 Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Kim UK, Jorgenson E, …, Risch N, Drayna D Science 2003 Feb 21 299(5610):1221-5 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 3 Mar 2003 Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning. Jeganathan D, Fox MF, …, Osborne JP, Povey S Hum Genet 2002 Dec 111(6):555-65 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 13 Feb 2003 KCNQ1 gain-of-function mutation in familial atrial fibrillation. Chen YH, Xu SJ, …, Barhanin J, Huang W Science 2003 Jan 10 299(5604):251-4 [abstract on PubMed] [related articles] [FREE full text] Selected by | Yasushi Okazaki / Sue Malcolm Evaluated 6 Feb 2003 Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Charlet-B N, Savkur RS, …, Grice EA, Cooper TA Mol Cell 2002 Jul 10(1):45-53 [abstract on PubMed] [related articles] [order article] Selected by | Sue Malcolm Evaluated 3 Jan 2003 Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mankodi A, Takahashi MP, …, Cannon SC, Thornton CA Mol Cell 2002 Jul 10(1):35-44 [abstract on PubMed] [related articles] [order article] Selected by | Louis Ptacek / Sue Malcolm Evaluated 3 Jan 2003 Hereditary haemochromatosis: only 1% of adult HFEC282Y homozygotes in South Wales have a clinical diagnosis of iron overload. McCune CA, Al-Jader LN, …, Jackson HA, Worwood M Hum Genet 2002 Dec 111(6):538-43 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 5 Dec 2002 Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome. King K, Flinter FA, Nihalani V, Green PM Hum Genet 2002 Dec 111(6):548-54 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 5 Dec 2002 Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Talmud PJ, Hawe E, …, Pennacchio LA, Humphries SE Hum Mol Genet 2002 Nov 15 11(24):3039-46 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 22 Nov 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn K, Nishimura DY, …, Stone EM, Sheffield VC Nat Genet 2002 Aug 31(4):435-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 22 Oct 2002 Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Carrasquillo MM, McCallion AS, …, Nouri N, Chakravarti A Nat Genet 2002 Oct 32(2):237-44 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 22 Oct 2002 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Braybrook C, Lisgo S, …, Stanier P, Lindsay S Hum Mol Genet 2002 Oct 15 11(22):2793-804 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 18 Oct 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Kondo S, Schutte BC, …, Dixon MJ, Murray JC Nat Genet 2002 Oct 32(2):285-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 23 Sep 2002 Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Schouten JP, McElgunn CJ, …, Diepvens F, Pals G Nucleic Acids Res 2002 Jun 15 30(12):e57 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 10 Sep 2002 Alternatively spliced TCR mRNA induced by disruption of reading frame. Wang J, Hamilton JI, …, Li S, Wilkinson MF Science 2002 Jul 5 297(5578):108-10 [abstract on PubMed] [related articles] [FREE full text] Selected by | Pierre Ferrier / Sue Malcolm / Anita Hopper / Elsebet Lund Evaluated 8 Aug 2002 Digenic inheritance of severe insulin resistance in a human pedigree. Savage DB, Agostini M, …, Chatterjee VK, Schafer AJ Nat Genet 2002 Aug 31(4):379-84 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 7 Aug 2002 A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Vahteristo P, Bartkova J, …, Kallioniemi OP, Nevanlinna H Am J Hum Genet 2002 Aug 71(2):432-8 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 8 Jul 2002 Genotype-phenotype correlation in inherited severe insulin resistance. Longo N, Wang Y, …, DiMeglio LA, Giannella-Neto D Hum Mol Genet 2002 Jun 1 11(12):1465-75 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 4 Jul 2002 X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Lehmann SG, Lalli E, Sassone-Corsi P Proc Natl Acad Sci U S A 2002 Jun 11 99(12):8225-30 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 27 Jun 2002 Attenuated APC alleles produce functional protein from internal translation initiation. Heppner Goss K, Trzepacz C, Tuohy TM, Groden J Proc Natl Acad Sci U S A 2002 Jun 11 99(12):8161-6 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm / Mariann Bienz Evaluated 27 Jun 2002 Autosomal dominant mutations affecting X inactivation choice in the mouse. Percec I, Plenge RM, …, Bartolomei MS, Willard HF Science 2002 May 10 296(5570):1136-9 [abstract on PubMed] [related articles] [FREE full text] Selected by | Sue Malcolm Evaluated 22 May 2002 Segregation at three loci explains familial and population risk in Hirschsprung disease. Gabriel SB, Salomon R, …, Lyonnet S, Chakravarti A Nat Genet 2002 May 31(1):89-93 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / L. Alison McInnes / Andrew Wilkie Evaluated 10 May 2002 A global disorder of imprinting in the human female germ line. Judson H, Hayward BE, Sheridan E, Bonthron DT Nature 2002 Apr 4 416(6880):539-42 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Frank Lyko / Sue Malcolm Evaluated 17 Apr 2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Hearn T, Renforth GL, …, Walker M, Wilson DI Nat Genet 2002 May 31(1):79-83 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 11 Apr 2002 A new type of mutation causes a splicing defect in ATM. Pagani F, Buratti E, …, Dörk T, Baralle FE Nat Genet 2002 Apr 30(4):426-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm / Peter Scambler / Andrew Wilkie Evaluated 21 Mar 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Ward CJ, Hogan MC, …, Torres VE, Harris PC Nat Genet 2002 Mar 30(3):259-69 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 28 Feb 2002 Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Beutler E, Felitti VJ, …, Ho NJ, Gelbart T Lancet 2002 Jan 19 359(9302):211-8 [abstract on PubMed] [related articles] [order article] Selected by | Sue Malcolm Evaluated 6 Feb 2002 Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Verpy E, Masmoudi S, …, Mueller RF, Petit C Nat Genet 2001 Nov 29(3):345-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Guy Richardson / Sue Malcolm Evaluated 4 Feb 2002 A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Osborne LR, Li M, …, Tsui LC, Scherer SW Nat Genet 2001 Nov 29(3):321-5 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 24 Jan 2002 Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Colmenares C, Heilstedt HA, …, Murray JC, Stavnezer E Nat Genet 2002 Jan 30(1):106-9 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 16 Jan 2002 Gene polymorphism in Netherton and common atopic disease. Walley AJ, Chavanas S, …, Hovnanian A, Cookson WO Nat Genet 2001 Oct 29(2):175-8 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 10 Dec 2001 Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Sözen MA, Suzuki K, …, Fernández Iglesias JE, Spritz RA Nat Genet 2001 Oct 29(2):141-2 [abstract on PubMed] [related articles] [full text] [order article] Selected by | Sue Malcolm Evaluated 23 Oct 2001

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