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Sue Malcolm
Institute for Child Health, Great Ormond Street Hospital, University College London, London, United Kingdom

Faculty Member: Genomics & Genetics > Medical Genetics [ since 9 July 2001 ]
[ Sponsorship ] [ Biography ] [ Evaluations ]
Sponsorship

Sue Malcolm sponsors free access to F1000 for Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Supporting F1000's initiative to make itself available to scientists in all countries, including free access to developing countries (more details).

Biography

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.

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Evaluations

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] [