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Alejandro Schaffer
National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), National Institutes of Health (NIH), Bethesda, United States of America

Faculty Member: Genomics & Genetics > Bioinformatics [ since 5 July 2001 ]
[ Biography ] [ Evaluations ]
Biography

Schaffer AA, Yannakakis M: Simple Local Search Problems That Are Hard to Solve.
SIAM Journal on Computing 20:56--87, 1991.

Cottingham Jr. RW, Idury RM, Schaffer AA:Faster Sequential Genetic Linkage Computations.
American Journal of Human Genetics 53:252--263, 1993.

Dwarkadas S, Schaffer AA, Cottingham Jr. RW,Cox AL, Keleher P, Zwaenepoel W:
Parallelization of General Linkage Analysis Problems. Human Heredity 44:127--141. 1994.

Gupta SK, Kececioglu J, Schaffer AA:Improving the Practical Space and Time Efficiency of
the Shortest-Paths Approach to Sum-of-Pairs Multiple Sequence Alignment.
Journal of Computational Biology 2:459--472, 1995.

Schaffer AA:Faster Linkage Analysis Computations for Pedigrees with Loops or Unused Alleles.
Human Heredity 46:226--235, 1996.

Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA:
Software for Constructing and Verifying Pedigrees Within Large Genealogies and an Application to the
Old Order Amish of Lancaster County, Genome Research, 8:211--221,1998.

Desper R, Jiang F, Kallioniemi O-P, Moch H, Papadimitriou CH, Schaffer AA:
Inferring Tree Models for Oncogenesis from Comparative Genome Hybridization Data. Journal of
Computational Biology, 6:37--51, 1999.

Schaffer AA, Aravind L, Madden TL, Shavirin S, Spouge JL, Wolf YI, Koonin EV, Altschul SF:
Improving the Accuracy of PSI-BLAST Protein Database Searches with
Composition-Based Statistics and Other Refinements. Nucleic Acids Research, 29:2994--3005, 2001

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Evaluations

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell S, Neale B, …, Daly MJ, Sham PC
Am J Hum Genet 2007 Sep 81(3):559-75 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 1 Jul 2009

PALMA: mRNA to genome alignments using large margin algorithms.
Schulze U, Hepp B, Ong CS, Raetsch G
Bioinformatics 2007 Aug 1 23:1892-900 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 12 May 2009

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
Liu XZ, Yuan Y, …, Lin X, Dai P
Hum Genet 2009 Feb 125(1):53-62 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 6 Mar 2009

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Fuchs T, Gavarini S, …, Bressman SB, Ozelius LJ
Nat Genet 2009 Feb 1 [abstract on PubMed] [related articles] [full text]
Selected by | Alejandro Schaffer
Evaluated 9 Feb 2009

Oncogenetic tree model of somatic mutations and DNA methylation in colon tumors.
Sweeney C, Boucher KM, …, Caan BJ, Slattery ML
Genes Chromosomes Cancer 2009 Jan 48(1):1-9 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 8 Jan 2009

An approach for cutting large and complex pedigrees for linkage analysis.
Liu F, Kirichenko A, …, van Duijn CM, Aulchenko YS
Eur J Hum Genet 2008 Jul 16(7):854-60 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 8 Jan 2009

Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer.
Valle L, Serena-Acedo T, …, Tanner SM, de la Chapelle A
Science 2008 Sep 5 321(5894):1361-5 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 15 Sep 2008


Efficient calculation of interval scores for DNA copy number data analysis.
Lipson D, Aumann Y, …, Linial N, Yakhini Z
J Comput Biol 2006 Mar 13(2):215-28 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 7 Aug 2008

Walking the interactome for prioritization of candidate disease genes.
Köhler S, Bauer S, Horn D, Robinson PN
Am J Hum Genet 2008 Apr 82(4):949-58 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 25 Jun 2008

Genomewide linkage analysis of the granulomatous mitsuda reaction implicates chromosomal regions 2q35 and 17q21.
Ranque B, Alter A, …, Abel L, Alcaïs A
J Infect Dis 2007 Oct 15 196(8):1248-52 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 7 May 2008

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, …, Nicholson G, Shaw CE
Science 2008 Mar 21 319(5870):1668-72 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer / Stanley Appel
Evaluated 26 Mar 2008

A comprehensive system for evaluation of remote sequence similarity detection.
Qi Y, Sadreyev RI, …, Kim BH, Grishin NV
BMC Bioinformatics 2007 8:314 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 19 Mar 2008

A localized negative genetic correlation constrains microevolution of coat color in wild sheep.
Gratten J, Wilson AJ, …, Pemberton JM, Slate J
Science 2008 Jan 18 319(5861):318-20 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer / Laurent Keller
Evaluated 21 Jan 2008

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Eiberg H, Troelsen J, …, Kjaer KW, Hansen L
Hum Genet 2008 Jan 3 [abstract on PubMed] [related articles] [full text]
Selected by | Alejandro Schaffer
Evaluated 17 Jan 2008

Multiple spaced seeds for homology search.
Ilie L, Ilie S
Bioinformatics 2007 Nov 15 23(22):2969-77 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 14 Nov 2007

Assessing performance of orthology detection strategies applied to eukaryotic genomes.
Chen F, Mackey AJ, Vermunt JK, Roos DS
PLoS ONE 2007 2(4):e383 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 5 Oct 2007

A method for estimating penetrance from families sampled for linkage analysis.
Wang Y, Ottman R, Rabinowitz D
Biometrics 2006 Dec 62(4):1081-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 29 Aug 2007

Partition-distance via the assignment problem.
Konovalov DA, Litow B, Bajema N
Bioinformatics 2005 May 15 21(10):2463-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 24 Jul 2007

Slamf1, the NKT cell control gene Nkt1.
Jordan MA, Fletcher JM, Pellicci D, Baxter AG
J Immunol 2007 Feb 1 178(3):1618-27 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 18 Jul 2007

SyMAP: A system for discovering and viewing syntenic regions of FPC maps.
Soderlund C, Nelson W, Shoemaker A, Paterson A
Genome Res 2006 Sep 16(9):1159-68 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 27 Jun 2007

A dictionary model for haplotyping, genotype calling, and association testing.
Ayers KL, Sabatti C, Lange K
Genet Epidemiol 2007 Nov 31(7):672-83 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 27 Jun 2007

Ordered subset analysis in genetic linkage mapping of complex traits.
Hauser ER, Watanabe RM, …, Langefeld CD, Boehnke M
Genet Epidemiol 2004 Jul 27(1):53-63 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 22 Mar 2007

Novel risk factor in gastroschisis: change of paternity.
Chambers CD, Chen BH, …, Jernigan L, Jones KL
Am J Med Genet A 2007 Apr 1 143(7):653-9 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 20 Mar 2007

SUP: an extension to SLINK to allow a larger number of marker loci to be simulated in pedigrees conditional on trait values.
Lemire M
BMC Genet 2006 7:40 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 22 Feb 2007

The human prion protein residue 129 polymorphism lies within a cluster of epitopes for T cell recognition.
Isaacs JD, Ingram RJ, …, Altmann DM, Jackson GS
J Neuropathol Exp Neurol 2006 Nov 65(11):1059-68 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 12 Dec 2006

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, …, de Saint Basile G, Latour S
Nature 2006 Nov 2 444(7115):110-4 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Glenn Dranoff / Alejandro Schaffer
Evaluated 29 Nov 2006

Common Kibra alleles are associated with human memory performance.
Papassotiropoulos A, Stephan DA, …, Henke K, de Quervain DJ
Science 2006 Oct 20 314(5798):475-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | David P. Wolfer / Hans van Bokhoven / Alejandro Schaffer
Evaluated 6 Nov 2006

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J, Vihinen M
Hum Mutat 2006 Dec 27(12):1230-43 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 4 Oct 2006

Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.
Boxer LA, Stein S, …, Bolyard AA, Dale DC
J Pediatr 2006 May 148(5):633-6 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 21 Jun 2006

High-throughput pedigree drawing.
Mäkinen VP, Parkkonen M, …, Kanninen T, Kaski K
Eur J Hum Genet 2005 Aug 13(8):987-9 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 25 May 2006

Search on chromosome 17 centromere reveals TNFRSF13B as a susceptibility gene for intracranial aneurysm: a preliminary study.
Inoue K, Mineharu Y, …, Hashimoto N, Koizumi A
Circulation 2006 Apr 25 113(16):2002-10 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 17 May 2006

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
Tang B, Xiong H, …, Xia K, Zhang Z
Hum Mol Genet 2006 Jun 1 15(11):1816-25 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 16 May 2006

Correcting BLAST e-values for low-complexity segments.
Sharon I, Birkland A, …, El-Yaniv R, Yona G
J Comput Biol 2005 Sep 12(7):980-1003 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 9 Mar 2006

Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
Türkmen S, Demirhan O, …, Sperling K, Mundlos S
J Med Genet 2006 May 43(5):461-4 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 15 Feb 2006

Chromosomal inversion discovered in C3H/HeJ mice.
Akeson EC, Donahue LR, …, Corrigan J, Davisson MT
Genomics 2006 Feb 87(2):311-3 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 7 Dec 2005

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
Ostergaard JR, Sunde L, Okkels H
Am J Med Genet A 2005 Dec 1 139(2):96-105; discussion 96 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 2 Dec 2005

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Dumitrescu AM, Liao XH, …, Weiss RE, Refetoff S
Nat Genet 2005 Nov 37(11):1247-52 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 3 Nov 2005

SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.
Fan BJ, Wang DY, …, Lau TC, Pang CP
Mol Vis 2005 11:625-31 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 13 Sep 2005

Cutting edge: polymorphisms in the ICOS promoter region are associated with allergic sensitization and Th2 cytokine production.
Shilling RA, Pinto JM, …, Ober C, Sperling AI
J Immunol 2005 Aug 15 175(4):2061-5 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 31 Aug 2005

Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency.
Wheat WH, Cool CD, …, Brown KK, Routes JM
J Exp Med 2005 Aug 15 202(4):479-84 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 23 Aug 2005

The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.
Schulz HL, Goetz T, Kaschkoetoe J, Weber BH
BMC Genomics 2004 Jul 29 5(1):50 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 14 Jun 2005

Maximum likelihood haplotyping for general pedigrees.
Fishelson M, Dovgolevsky N, Geiger D
Hum Hered 2005 59(1):41-60 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 11 May 2005

Defective Vav expression and impaired F-actin reorganization in a subset of patients with common variable immunodeficiency characterized by T-cell defects.
Paccani SR, Boncristiano M, …, D'Elios MM, Baldari CT
Blood 2005 Jul 15 106(2):626-34 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 19 Apr 2005

Reverse engineering of regulatory networks in human B cells.
Basso K, Margolin AA, …, Dalla-Favera R, Califano A
Nat Genet 2005 Apr 37(4):382-90 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer / Samuel Gunderson
Evaluated 18 Apr 2005

A variant in the HS1-BP3 gene is associated with familial essential tremor.
Higgins JJ, Lombardi RQ, …, Tan EK, Rooney JP
Neurology 2005 Feb 8 64(3):417-21 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 18 Feb 2005

Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis.
Foerster J, Nolte I, …, Sterry W, Te Meerman G
J Invest Dermatol 2005 Jan 124(1):99-102 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 2 Feb 2005

Approximate protein structural alignment in polynomial time.
Kolodny R, Linial N
Proc Natl Acad Sci U S A 2004 Aug 17 101(33):12201-6 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 17 Dec 2004

Reconstructing tumor amplisomes.
Raphael BJ, Pevzner PA
Bioinformatics 2004 Aug 4 20 Suppl 1:i265-73 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 17 Nov 2004

Pathways of urothelial cancer progression suggested by Bayesian network analysis of allelotyping data.
Bulashevska S, Szakacs O, …, Eils R, Kovacs G
Int J Cancer 2004 Jul 20 110(6):850-6 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 13 Jul 2004

A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.
Højlund K, Hansen T, …, Pedersen O, Beck-Nielsen H
Diabetes 2004 Jun 53(6):1592-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 2 Jun 2004

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.
Abecasis GR, Cherny SS, Cookson WO, Cardon LR
Nat Genet 2002 Jan 30(1):97-101 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Daniel Weeks / Alejandro Schaffer
Evaluated 4 May 2004

Human genetics: lessons from Quebec populations.
Scriver CR
Annu Rev Genomics Hum Genet 2001 2:69-101 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 30 Apr 2004

Efficient simulation of P values for linkage analysis.
Song KK, Weeks DE, Sobel E, Feingold E
Genet Epidemiol 2004 Feb 26(2):88-96 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 11 Feb 2004

Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects.
Zhu H, Wicker NJ, …, Canfield M, Finnell RH
Mol Genet Metab 2004 Feb 81(2):127-32 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 30 Jan 2004

Patterns of chromosomal imbalances defines subgroups of breast cancer with distinct clinical features and prognosis. A study of 305 tumors by comparative genomic hybridization.
Rennstam K, Ahlstedt-Soini M, …, Tirkkonen M, Isola J
Cancer Res 2003 Dec 15 63(24):8861-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 23 Jan 2004

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
Duan Z, Li FQ, …, Benson KF, Horwitz M
Mol Cell Biol 2004 Jan 24(1):58-70 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 21 Jan 2004

Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11.
Francks C, DeLisi LE, …, Stein JF, Monaco AP
Hum Mol Genet 2003 Dec 15 12(24):3225-30 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 7 Jan 2004

Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Schultz DW, Klein ML, …, Francis PJ, Acott TS
Hum Mol Genet 2003 Dec 15 12(24):3315-23 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 28 Oct 2003

Multivariate analyses of genomic imbalances in solid tumors reveal distinct and converging pathways of karyotypic evolution.
Höglund M, Gisselsson D, …, Mitelman F, Säll T
Genes Chromosomes Cancer 2001 Jun 31(2):156-71 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 18 Sep 2003

From latent disseminated cells to overt metastasis: genetic analysis of systemic breast cancer progression.
Schmidt-Kittler O, Ragg T, …, Eils R, Klein CA
Proc Natl Acad Sci U S A 2003 Jun 24 100(13):7737-42 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 21 Aug 2003

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Carlton VE, Harris BZ, …, Morton DH, Bull LN
Nat Genet 2003 May 34(1):91-6 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 30 May 2003

Impact of parental relationships in maximum lod score affected sib-pair method.
Leutenegger AL, Génin E, Thompson EA, Clerget-Darpoux F
Genet Epidemiol 2002 Nov 23(4):413-25 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 16 May 2003

A simulated annealing algorithm for maximum likelihood pedigree reconstruction.
Almudevar A
Theor Popul Biol 2003 Mar 63(2):63-75 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 15 Apr 2003

Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection.
Thye T, Burchard GD, …, Müller-Myhsok B, Horstmann RD
Am J Hum Genet 2003 Feb 72(2):448-53 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 16 Jan 2003

Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study.
Mellemkjaer L, Hammarstrom L, …, Bjorkander J, Olsen JH
Clin Exp Immunol 2002 Dec 130(3):495-500 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 16 Jan 2003

Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13.
Maris JM, Weiss MJ, …, Urbanek M, Shusterman S
Cancer Res 2002 Nov 15 62(22):6651-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 26 Nov 2002

Threshold protocol for the exchange of confidential medical data.
Berman JJ
BMC Med Res Methodol 2002 Nov 11 2:12 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 19 Nov 2002

The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome.
Oikawa H, Tun Z, …, Tanaka E, Honda K
Biochem Biophys Res Commun 2002 Sep 20 297(2):341-5 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 24 Sep 2002

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
Aligianis IA, Forshew T, …, Moore AT, Maher ER
J Med Genet 2002 Sep 39(9):656-60 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 6 Sep 2002

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Bu L, Jin Y, …, Hayden MR, Kong X
Nat Genet 2002 Jul 31(3):276-8 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 24 Jul 2002

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Hand CK, Khoris J, …, Camu W, Rouleau GA
Am J Hum Genet 2002 Jan 70(1):251-6 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 11 Jul 2002

Molecular classification of head and neck squamous cell carcinoma using cDNA microarrays.
Belbin TJ, Singh B, …, Prystowsky MB, Childs G
Cancer Res 2002 Feb 15 62(4):1184-90 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 10 Jul 2002

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
Al-Kateb H, Bähring S, …, Dresel HA, Luft FC
Circ Res 2002 May 17 90(9):951-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 14 Jun 2002

Detection and integration of genotyping errors in statistical genetics.
Sobel E, Papp JC, Lange K
Am J Hum Genet 2002 Feb 70(2):496-508 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Jurg Ott / Daniel Weeks / Alejandro Schaffer
Evaluated 13 Jun 2002

Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.
Hewett D, Samuelsson L, …, Riley J, Purvis I
Genomics 2002 Mar 79(3):305-14 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer / Andy Chan
Evaluated 17 May 2002

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
del Castillo I, Villamar M, …, Menéndez I, Moreno F
N Engl J Med 2002 Jan 24 346(4):243-9 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 16 May 2002

Effectiveness of computational methods in haplotype prediction.
Xu CF, Lewis K, …, Zaykin DV, Purvis IJ
Hum Genet 2002 Feb 110(2):148-56 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 11 Apr 2002

Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2.
Alkhateeb A, Stetler GL, …, Fain PR, Spritz RA
Hum Mol Genet 2002 Mar 15 11(6):661-7 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 11 Apr 2002

SNPs and snails and puppy dogs' tails: analysis of SNP haplotype data using the gamete competition model.
Sinsheimer JS, McKenzie CA, Keavney B, Lange K
Ann Hum Genet 2001 Sep 65(Pt 5):483-90 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 12 Mar 2002

Estimation of P-values for global alignments of protein sequences.
Webber C, Barton GJ
Bioinformatics 2001 Dec 17(12):1158-67 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 27 Feb 2002

Dominant negative ATM mutations in breast cancer families.
Chenevix-Trench G, Spurdle AB, …, Mann GJ, Khanna KK
J Natl Cancer Inst 2002 Feb 6 94(3):205-15 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer / Stephen Jackson
Evaluated 15 Feb 2002

Power of multipoint identity-by-descent methods to detect linkage using variance component models.
Ekstrøm CT
Genet Epidemiol 2001 Dec 21(4):285-98 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 10 Jan 2002

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Hampe J, Frenzel H, …, Curran M, Schreiber S
Proc Natl Acad Sci U S A 2002 Jan 8 99(1):321-6 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 10 Jan 2002

Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine.
McCarthy LC, Hosford DA, …, Roses AD, Purvis IJ
Genomics 2001 Dec 78(3):135-49 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 7 Jan 2002

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
Levy GG, Nichols WC, …, Ginsburg D, Tsai HM
Nature 2001 Oct 4 413(6855):488-94 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer / Richard Lifton
Evaluated 10 Dec 2001

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.
Young TL, Ives E, …, King MC, Cator T
Hum Mol Genet 2001 Oct 15 10(22):2509-14 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 6 Dec 2001

Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.
Desautels A, Turecki G, …, Verner A, Rouleau GA
Am J Hum Genet 2001 Dec 69(6):1266-70 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 5 Dec 2001

A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20.
Fossey SC, Mychaleckyj JC, …, Freedman BI, Bowden DW
Genomics 2001 Aug 76(1-3):45-57 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 30 Nov 2001

Identification of a new malaria susceptibility locus (Char4) in recombinant congenic strains of mice.
Fortin A, Cardon LR, …, Stevenson MM, Gros P
Proc Natl Acad Sci U S A 2001 Sep 11 98(19):10793-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Robert North / Alejandro Schaffer
Evaluated 30 Nov 2001

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees.
Sobel E, Sengul H, Weeks DE
Hum Hered 2001 52(3):121-31 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 29 Nov 2001

Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium.
Turecki G, Grof P, …, Rouleau GA, Alda M
Mol Psychiatry 2001 Sep 6(5):570-8 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 29 Nov 2001

Linkage of left ventricular contractility to chromosome 11 in humans: The HyperGEN Study.
Arnett DK, Devereux RB, …, Rao DC, Hypertension Genetic Epidemiology Network Study Group
Hypertension 2001 Oct 38(4):767-72 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 2 Nov 2001

Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11.
King AL, Fraser JS, …, Rosen-Bronson S, Ciclitira PJ
Ann Hum Genet 2001 Jul 65(Pt 4):377-86 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer
Evaluated 18 Oct 2001

An Eulerian path approach to DNA fragment assembly.
Pevzner PA, Tang H, Waterman MS
Proc Natl Acad Sci U S A 2001 Aug 14 98(17):9748-53 [abstract on PubMed] [related articles] [FREE full text]
Selected by | Alejandro Schaffer
Evaluated 18 Oct 2001

A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma.
Kauppi P, Lindblad-Toh K, …, Kere J, Laitinen T
Genomics 2001 Sep 77(1-2):35-42 [abstract on PubMed] [related articles] [full text] [order article]
Selected by | Alejandro Schaffer
Evaluated 2 Oct 2001

A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
Gratacòs M, Nadal M, …, Bulbena A, Estivill X
Cell 2001 Aug 10 106(3):367-79 [abstract on PubMed] [related articles] [order article]
Selected by | Alejandro Schaffer / Michael O'Donovan / Evan Eichler / Vicky Brandt / Peter Scambler
Evaluated 3 Sep 2001

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