Featured
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Article
| Open Access
Genome-wide linkage analysis combined with genome sequencing in large families with intracranial aneurysms
- Mark K. Bakker
- , Suze Cobyte
- & Ynte M. Ruigrok
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Article
| Open Access
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
- Johanna L. Jones
- , Mark A. Corbett
- & Kathryn P. Burdon
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Comment |
A powerful new method for rare-variant analysis of quantitative traits in families
- Joan E. Bailey-Wilson
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A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease
- Linhai Zhao
- , Zhihui Zhang
- & Suzanne M. Leal
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A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)
- Erin M. Andres
- , Huma Hafeez
- & Muhammad Hashim Raza
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Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31
- Heming Wang
- , Priyanka Nandakumar
- & Xiaofeng Zhu
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Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q
- Miriam Potrony
- , Joan Anton Puig-Butille
- & Susana Puig
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CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
- Annemieke J. M. H. Verkerk
- , Shimriet Zeidler
- & Ben A. Oostra
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Can whole-exome sequencing data be used for linkage analysis?
- Steven Gazal
- , Simon Gosset
- & Elisabeth Tournier-Lasserve
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Article |
A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis
- Stephanie Maiwald
- , Mahdi M Motazacker
- & Geesje M Dallinga-Thie
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Article |
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
- Atteeq U Rehman
- , Regie Lyn P Santos-Cortez
- & Suzanne M Leal
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Article |
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
- A Gulhan Ercan-Sencicek
- , Samira Jambi
- & Matthew W State
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Article |
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome
- Gabrielle R Wilson
- , Jasmine Sunley
- & Paul J Lockhart
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A novel locus for episodic ataxia:UBR4 the likely candidate
- Judith Conroy
- , Paul McGettigan
- & Sean Ennis
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A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions
- Lisa J Martin
- , Lili Ding
- & D Woodrow Benson
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Short Report |
A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18
- Kerttu K Majander
- , Pia M Villa
- & Hannele Laivuori
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Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions
- Najaf Amin
- , Jouke-Jan Hottenga
- & Cornelia M van Duijn
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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects
- Maria Arélin
- , Bernt Schulze
- & Katrin Hoffmann
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Article |
Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis
- Claire L Simpson
- , Cheryl D Cropp
- & Joan E Bailey-Wilson
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Short Report |
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q
- Kunka Kamenarova
- , Sylvia Cherninkova
- & Christina Chakarova
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Short Report |
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28
- Patra Yeetong
- , Surasawadee Ausavarat
- & Vorasuk Shotelersuk
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Article |
Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder
- Aurélie Labbe
- , Alexandre Bureau
- & Chantal Merette
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A family-based association test to detect gene–gene interactions in the presence of linkage
- Lizzy De Lobel
- , Lutgarde Thijs
- & Kristel Van Steen
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Article
| Open Access
A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families
- Lisbeth Venø Kruse
- , Mette Nyegaard
- & Anders Dupont Børglum
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Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis
- Valentina Moskvina
- , Karl M Schmidt
- & Michael C O'Donovan
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Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis
- Marie-Claude Babron
- , Hervé Perdry
- & Françoise Clerget-Darpoux
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Short Report |
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q
- Vanita Berry
- , Alexander C W Ionides
- & Shomi S Bhattacharya
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Article |
Finding disease genes: a fast and flexible approach for analyzing high-throughput data
- William C L Stewart
- , Esther N Drill
- & David A Greenberg
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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
- Manèl Chograni
- , Imen Rejeb
- & Habiba Chaabouni Bouhamed
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New disease gene location and high genetic heterogeneity in idiopathic scoliosis
- Patrick Edery
- , Patricia Margaritte-Jeannin
- & Francoise Clerget-Darpoux
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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q
- Judith B A van de Meerakker
- , Klaartje van Engelen
- & Alex V Postma
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Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration
- Renfang Jiang
- , Jianping Dong
- & Gang Zheng
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Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?
- Anne-Louise Leutenegger
- , Mourad Sahbatou
- & Emmanuelle Génin
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Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations
- Elisabet Einarsdottir
- , Marianna R Bevova
- & Päivi Saavalainen
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Article
| Open Access
Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population
- Pia Villanueva
- , Dianne F Newbury
- & Hernán Palomino
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Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene
- An Windelinckx
- , Gunther De Mars
- & Martine A Thomis
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Genome-wide association of breast cancer: composite likelihood with imputed genotypes
- Ioannis Politopoulos
- , Jane Gibson
- & Andrew Collins
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Gene-based interaction analysis by incorporating external linkage disequilibrium information
- Jing He
- , Kai Wang
- & Mingyao Li
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Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms
- Ryan M Smith
- , Houda Alachkar
- & Wolfgang Sadee
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Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity
- Virginia Boccardi
- , Immacolata Ambrosino
- & Michelangela Barbieri
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Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate
- Nik Cummings
- , Thomas D Dyer
- & Jeremy B M Jowett
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Population structure and genome-wide patterns of variation in Ireland and Britain
- Colm T O'Dushlaine
- , Derek Morris
- & Gianpiero L Cavalleri
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A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis
- Sibel A Ugur Iseri
- , Yusuf K Durlu
- & Aslihan Tolun
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Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements
- Annabel Whibley
- , Jill Urquhart
- & F Lucy Raymond
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A powerful score test to detect positive selection in genome-wide scans
- Ming Zhong
- , Kenneth Lange
- & Ruzong Fan
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Linkage and candidate gene studies of autism spectrum disorders in European populations
- Richard Holt
- , Gabrielle Barnby
- & Anthony P Monaco
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A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-α levels
- Steffan D Bos
- , Nico Lakenberg
- & P Eline Slagboom
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Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11–q14
- Liesel M FitzGerald
- , Shannon K McDonnell
- & Janet L Stanford
A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene