European Journal of Human Genetics

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program

Georg B Ehret — June 4, 2008

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program

European Journal of Human Genetics advance online publication, June 4, 2008. doi:10.1038/ejhg.2008.102

Authors: Georg B Ehret, Alanna C Morrison, Ashley A O'Connor, Megan L Grove, Lisa Baird, Karen Schwander, Alan Weder, Richard S Cooper, D C Rao, Steven C Hunt, Eric Boerwinkle & Aravinda Chakravarti

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

Fulvio Cruciani — June 25, 2008

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.105

Authors: Fulvio Cruciani, Beniamino Trombetta, Damian Labuda, David Modiano, Antonio Torroni, Rodolfo Costa & Rosaria Scozzari

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Rob W J Collin — June 25, 2008

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.110

Authors: Rob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, Robert-Jan Pauw, Rutger F Plantinga, Patrick L Huygen, Ronald Admiraal, Arjan P M de Brouwer, Tim M Strom, Cor W R J Cremers & Hannie Kremer

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies

Wanling Yang — June 25, 2008

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies

European Journal of Human Genetics advance online publication, June 25, 2008. doi:10.1038/ejhg.2008.116

Authors: Wanling Yang, Zhanyong Wang, Lusheng Wang, Pak-Chung Sham, Peng Huang & Yu Lung Lau

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands

Anne L Berends — July 9, 2008

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands

European Journal of Human Genetics advance online publication, July 9, 2008. doi:10.1038/ejhg.2008.118

Authors: Anne L Berends, Eric A Steegers, Aaron Isaacs, Y S Aulchenko, Fan Liu, Christianne J de Groot, Ben A Oostra & Cornelia M van Duijn

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Maria Clara Bonaglia — July 23, 2008

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.119

Authors: Maria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joke Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodrìguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij & Orsetta Zuffardi

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Cornelia Di Gaetano — August 6, 2008

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

European Journal of Human Genetics advance online publication, August 6, 2008. doi:10.1038/ejhg.2008.120

Authors: Cornelia Di Gaetano, Nicoletta Cerutti, Francesca Crobu, Carlo Robino, Serena Inturri, Sarah Gino, Simonetta Guarrera, Peter A Underhill, Roy J King, Valentino Romano, Francesco Cali, Mauro Gasparini, Giuseppe Matullo, Alfredo Salerno, Carlo Torre & Alberto Piazza

What process attributes of clinical genetics services could maximise patient benefits?

Marion McAllister — July 2, 2008

What process attributes of clinical genetics services could maximise patient benefits?

European Journal of Human Genetics advance online publication, July 2, 2008. doi:10.1038/ejhg.2008.121

Authors: Marion McAllister, Katherine Payne, Rhona MacLeod, Stuart Nicholls, Dian Donnai & Linda Davies

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project

Marie-Lise Grisoni — July 16, 2008

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.127

Authors: Marie-Lise Grisoni, Carole Proust, Mervi Alanne, Maylis DeSuremain, Veikko Salomaa, Kari Kuulasmaa, François Cambien, Viviane Nicaud, Birgitta Stegmayr, Jarmo Virtamo, Denis Shields, Frank Kee, Laurence Tiret, Alun Evans & David-Alexandre Tregouet

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas

Ana Belén Espinosa — July 16, 2008

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.128

Authors: Ana Belén Espinosa, Carlos Mackintosh, Angel Maíllo, Laura Gutierrez, Pablo Sousa, Marta Merino, Javier Ortiz, Enrique de Alava, Alberto Orfao & María Dolores Tabernero

Deciphering the genetics of hereditary non-syndromic colorectal cancer

Eli Papaemmanuil — July 16, 2008

Deciphering the genetics of hereditary non-syndromic colorectal cancer

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.129

Authors: Eli Papaemmanuil, Luis Carvajal-Carmona, Gabrielle S Sellick, Zoe Kemp, Emily Webb, Sarah Spain, Kate Sullivan, Ella Barclay, Steven Lubbe, Emma Jaeger, Jayaram Vijayakrishnan, Peter Broderick, Maggie Gorman, Lynn Martin, Anneke Lucassen, D Timothy Bishop, D Gareth Evans, Eamonn R Maher, Verena Steinke, Nils Rahner, Hans K Schackert, Timm O Goecke, Elke Holinski-Feder, Peter Propping, Tom Van Wezel, Juul Wijnen, Jean-Baptiste Cazier, Huw Thomas, Richard S Houlston & Ian Tomlinson

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

Elisabetta Tabolacci — July 16, 2008

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.130

Authors: Elisabetta Tabolacci, Umberto Moscato, Francesca Zalfa, Claudia Bagni, Pietro Chiurazzi & Giovanni Neri

Influence of MUC1 genetic variation on prostate cancer risk and survival

Rona J Strawbridge — July 16, 2008

Influence of MUC1 genetic variation on prostate cancer risk and survival

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.131

Authors: Rona J Strawbridge, Monica Nister, Kerstin Brismar, Chunde Li & Sara Lindström

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

Katrin Koehler — July 16, 2008

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

European Journal of Human Genetics advance online publication, July 16, 2008. doi:10.1038/ejhg.2008.132

Authors: Katrin Koehler, Knut Brockmann, Manuela Krumbholz, Barbara Kind, Carsten Bönnemann, Jutta Gärtner & Angela Huebner

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

Mary Glancy — August 20, 2008

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.133

Authors: Mary Glancy, Angela Barnicoat, Rajan Vijeratnam, Sharon de Souza, Joanne Gilmore, Shuwen Huang, Viv K Maloney, N Simon Thomas, David J Bunyan, Ann Jackson & John C K Barber

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

Eric Pasmant — July 23, 2008

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.134

Authors: Eric Pasmant, Aurélie de Saint-Trivier, Ingrid Laurendeau, Anne Dieux-Coeslier, Béatrice Parfait, Michel Vidaud, Dominique Vidaud & Ivan Bièche

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Els Dequeker — August 6, 2008

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

European Journal of Human Genetics advance online publication, August 6, 2008. doi:10.1038/ejhg.2008.136

Authors: Els Dequeker, Manfred Stuhrmann, Michael A Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie Des Georges, Claude Ferec, Milan Macek, Pier-Franco Pignatti, Hans Scheffer, Marianne Schwartz, Michal Witt, Martin Schwarz & Emmanuelle Girodon

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

Anthony W Ryan — August 20, 2008

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.137

Authors: Anthony W Ryan, David A Hughes, Kun Tang, Dermot P Kelleher, Thomas Ryan, Ross McManus & Mark Stoneking

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

Christine LH Snozek — July 23, 2008

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

European Journal of Human Genetics advance online publication, July 23, 2008. doi:10.1038/ejhg.2008.138

Authors: Christine LH Snozek, Susan A Lagerstedt, Teck K Khoo, Melvyn Rubenfire, William L Isley, Laura J Train & Linnea M Baudhuin

Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction

Jessica K Konstantou — August 6, 2008

Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction

European Journal of Human Genetics advance online publication, August 6, 2008. doi:10.1038/ejhg.2008.139

Authors: Jessica K Konstantou, Penelope C Ioannou & Theodore K Christopoulos

Variation near complement factor I is associated with risk of advanced AMD

Jesen A Fagerness — August 6, 2008

Variation near complement factor I is associated with risk of advanced AMD

European Journal of Human Genetics advance online publication, August 6, 2008. doi:10.1038/ejhg.2008.140

Authors: Jesen A Fagerness, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Mark J Daly & Johanna M Seddon

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Osama Alsmadi — August 13, 2008

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

European Journal of Human Genetics advance online publication, August 13, 2008. doi:10.1038/ejhg.2008.141

Authors: Osama Alsmadi, Brian F Meyer, Fowzan Alkuraya, Salma Wakil, Fadi Alkayal, Haya Al-Saud, Khushnooda Ramzan & MoeenAldeen Al-Sayed

Problems assessing uptake of Huntington disease predictive testing and a proposed solution

Roslyn J Tassicker — July 30, 2008

Problems assessing uptake of Huntington disease predictive testing and a proposed solution

European Journal of Human Genetics advance online publication, July 30, 2008. doi:10.1038/ejhg.2008.142

Authors: Roslyn J Tassicker, Betty Teltscher, M Kaye Trembath, Veronica Collins, Leslie J Sheffield, Edmond Chiu, Lyle Gurrin & Martin B Delatycki

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

Inga Ebermann — July 30, 2008

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

European Journal of Human Genetics advance online publication, July 30, 2008. doi:10.1038/ejhg.2008.143

Authors: Inga Ebermann, Robert K Koenekoop, Irma Lopez, Lara Bou-Khzam, Renée Pigeon & Hanno J Bolz

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

Samarth Bhatt — August 6, 2008

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

European Journal of Human Genetics advance online publication, August 6, 2008. doi:10.1038/ejhg.2008.144

Authors: Samarth Bhatt, Kamran Moradkhani, Kristin Mrasek, Jacques Puechberty, Marina Manvelyan, Friederike Hunstig, Genevieve Lefort, Anja Weise, James Lespinasse, Pierre Sarda, Thomas Liehr, Samir Hamamah & Franck Pellestor

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

Mariona Font-Llitjós — August 20, 2008

Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.145

Authors: Mariona Font-Llitjós, Benjamín Rodríguez-Santiago, Meritxell Espino, Ruth Sillué, Sandra Mañas, Laia Gómez, Luis A Pérez-Jurado, Manuel Palacín & Virginia Nunes

Long-term outcome of presymptomatic testing in Huntington disease

Marcela Gargiulo — August 20, 2008

Long-term outcome of presymptomatic testing in Huntington disease

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.146

Authors: Marcela Gargiulo, Séverine Lejeune, Marie-Laure Tanguy, Khadija Lahlou-Laforêt, Anne Faudet, David Cohen, Josué Feingold & Alexandra Durr

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

Moneef Shoukier — August 13, 2008

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

European Journal of Human Genetics advance online publication, August 13, 2008. doi:10.1038/ejhg.2008.147

Authors: Moneef Shoukier, Juergen Neesen, Simone M Sauter, Loukas Argyriou, Nadine Doerwald, DV Krishna Pantakani & Ashraf U Mannan

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

Xudong Liu — August 27, 2008

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

European Journal of Human Genetics advance online publication, August 27, 2008. doi:10.1038/ejhg.2008.148

Authors: Xudong Liu, Natalia Novosedlik, Ami Wang, Melissa L Hudson, Ira L Cohen, Albert E Chudley, Cynthia J Forster-Gibson, Suzanne M E Lewis & Jeanette J A Holden

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate

Brett T Chiquet — August 20, 2008

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.149

Authors: Brett T Chiquet, Syed S Hashmi, Robin Henry, Amber Burt, John B Mulliken, Samuel Stal, Molly Bray, Susan H Blanton & Jacqueline T Hecht

A novel missense RAG-1 mutation results in T−B−NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories

Zheng Xiao — August 13, 2008

A novel missense RAG-1 mutation results in T−B−NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories

European Journal of Human Genetics advance online publication, August 13, 2008. doi:10.1038/ejhg.2008.150

Authors: Zheng Xiao, Steven M Yannone, Elizabeth Dunn & Morton J Cowan

A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives

Hai-Yan Zhu — August 13, 2008

A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives

European Journal of Human Genetics advance online publication, August 13, 2008. doi:10.1038/ejhg.2008.151

Authors: Hai-Yan Zhu, Shi-Wen Wang, Li Liu, Yan-Hua Li, Rui Chen, Lin Wang & C James Holliman

Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects

Sampo Sammalisto — September 10, 2008

Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.152

Authors: Sampo Sammalisto, Tero Hiekkalinna, Karen Schwander, Sharon Kardia, Alan B Weder, Beatriz L Rodriguez, Alessandro Doria, Jennifer A Kelly, Gail R Bruner, John B Harley, Susan Redline, Emma K Larkin, Sanjay R Patel, Amy JH Ewan, James L Weber, Markus Perola & Leena Peltonen

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2

Carolien M Kets — September 10, 2008

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.153

Authors: Carolien M Kets, Nicoline Hoogerbrugge, Joannes H J M van Krieken, Monique Goossens, Han G Brunner & Marjolijn J L Ligtenberg

The mutation spectrum in RECQL4 diseases

H Annika Siitonen — August 20, 2008

The mutation spectrum in RECQL4 diseases

European Journal of Human Genetics advance online publication, August 20, 2008. doi:10.1038/ejhg.2008.154

Authors: H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valerie Cormier-Daire, Barbara Crandall, Katariina Hannula-Jouppi, Raoul Hennekam, Denise Herzog, Kathelijn Keymolen, Marita Lipsanen-Nyman, Peter Miny, Sharon E Plon, Stefan Riedl, Ajoy Sarkar, Fernando R Vargas, Alain Verloes, Lisa L Wang, Helena Kääriäinen & Marjo Kestilä

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

Hanen Belguith — September 10, 2008

Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.155

Authors: Hanen Belguith, Saber Masmoudi, Myrna Medlej-Hashim, Eliane Chouery, Dominique Weil, Hammadi Ayadi, Christine Petit & André Mégarbané

Lactase persistence-related genetic variant: population substructure and health outcomes

George Davey Smith — September 17, 2008

Lactase persistence-related genetic variant: population substructure and health outcomes

European Journal of Human Genetics advance online publication, September 17, 2008. doi:10.1038/ejhg.2008.156

Authors: George Davey Smith, Debbie A Lawlor, Nic J Timpson, Jamil Baban, Matt Kiessling, Ian N M Day & Shah Ebrahim

The E-cadherin (CDH1) −160 C/A polymorphism and prostate cancer risk: a meta-analysis

Li-Xin Qiu — September 10, 2008

The E-cadherin (CDH1) −160 C/A polymorphism and prostate cancer risk: a meta-analysis

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.157

Authors: Li-Xin Qiu, Ru-Tian Li, Jian-Bing Zhang, Wen-Zhao Zhong, Jian-Ling Bai, Bao-Rui Liu, Ming-Hua Zheng & Xiao-Ping Qian

Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study)

Linda T Roten — September 10, 2008

Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study)

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.158

Authors: Linda T Roten, Matthew P Johnson, Siri Forsmo, Elizabeth Fitzpatrick, Thomas D Dyer, Shaun P Brennecke, John Blangero, Eric K Moses & Rigmor Austgulen

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kimia Kahrizi — September 10, 2008

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.159

Authors: Kimia Kahrizi, Hossein Najmabadi, Roxana Kariminejad, Payman Jamali, Mahdi Malekpour, Masoud Garshasbi, Hans Hilger Ropers, Andreas Walter Kuss & Andreas Tzschach

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

Maria Clara Bonaglia — September 24, 2008

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

European Journal of Human Genetics advance online publication, September 24, 2008. doi:10.1038/ejhg.2008.160

Authors: Maria Clara Bonaglia, Roberto Giorda, Angelo Massagli, Rita Galluzzi, Roberto Ciccone & Orsetta Zuffardi

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

Diane Van Opstal — September 10, 2008

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.161

Authors: Diane Van Opstal, Marjan Boter, Danielle de Jong, Cardi van den Berg, Hennie T Brüggenwirth, Hajo I J Wildschut, Annelies de Klein & Robert-Jan H Galjaard

Meta-analysis of genome-wide linkage studies across autoimmune diseases

Paola Forabosco — September 10, 2008

Meta-analysis of genome-wide linkage studies across autoimmune diseases

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.163

Authors: Paola Forabosco, Emmanuelle Bouzigon, Mandy Y Ng, Jane Hermanowski, Sheila A Fisher, Lindsey A Criswell & Cathryn M Lewis

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)

Christiane Bernhardt — September 10, 2008

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.164

Authors: Christiane Bernhardt, Anne-Marie Schwan, Peter Kraus, Joerg Thomas Epplen & Erdmute Kunstmann

Prader–Willi syndrome

Suzanne B Cassidy — September 10, 2008

Prader–Willi syndrome

European Journal of Human Genetics advance online publication, September 10, 2008. doi:10.1038/ejhg.2008.165

Authors: Suzanne B Cassidy & Daniel J Driscoll

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Mounira Hmani-Aifa — October 15, 2008

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.167

Authors: Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling & Hammadi Ayadi

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Hannelie Engbers — October 1, 2008

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.168

Authors: Hannelie Engbers, Jasper J van der Smagt, Ruben van ‘t Slot, Joris R Vermeesch, Ron Hochstenbach & Martin Poot

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

Matthias Wjst — October 8, 2008

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

European Journal of Human Genetics advance online publication, October 8, 2008. doi:10.1038/ejhg.2008.169

Authors: Matthias Wjst, Peter Lichtner, Thomas Meitinger & Bodo Grimbacher

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

Mark Nellist — October 1, 2008

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.170

Authors: Mark Nellist, Diana van den Heuvel, Diane Schluep, Carla Exalto, Miriam Goedbloed, Anneke Maat-Kievit, Ton van Essen, Karin van Spaendonck-Zwarts, Floor Jansen, Paula Helderman, Gabriella Bartalini, Outi Vierimaa, Maila Penttinen, Jenneke van den Ende, Ans van den Ouweland & Dicky Halley

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease

Liesel M FitzGerald — October 1, 2008

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.171

Authors: Liesel M FitzGerald, Briony Patterson, Russell Thomson, Andrea Polanowski, Stephen Quinn, Jesper Brohede, Timothy Thornton, David Challis, David A Mackey, Terence Dwyer, Simon Foote, Garry N Hannan, James Stankovich, James D McKay & Joanne L Dickinson

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

Annelies Konings — September 24, 2008

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

European Journal of Human Genetics advance online publication, September 24, 2008. doi:10.1038/ejhg.2008.172

Authors: Annelies Konings, Lut Van Laer, Sophie Michel, Malgorzata Pawelczyk, Per-Inge Carlsson, Marie-Louise Bondeson, Elzbieta Rajkowska, Adam Dudarewicz, Ann Vandevelde, Erik Fransen, Jeroen Huyghe, Erik Borg, Mariola Sliwinska-Kowalska & Guy Van Camp

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Cyril Gitiaux — October 1, 2008

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.174

Authors: Cyril Gitiaux, Irène Ceballos-Picot, Sandrine Marie, Vassili Valayannopoulos, Marlène Rio, Séverine Verrieres, Jean François Benoist, Marie Françoise Vincent, Isabelle Desguerre & Nadia Bahi-Buisson

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD

Paweł Stańczak — October 1, 2008

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.175

Authors: Paweł Stańczak, Joanna Witecka, Anna Szydło, Ewa Gutmajster, Małgorzata Lisik, Aleksandra Auguściak-Duma, Maciej Tarnowski, Tomasz Czekaj, Hanna Czekaj & Aleksander L Sieroń

PTCH1 duplication in a family with microcephaly and mild developmental delay

Katarzyna Derwińska — October 1, 2008

PTCH1 duplication in a family with microcephaly and mild developmental delay

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.176

Authors: Katarzyna Derwińska, Marta Smyk, Mitchell Lance Cooper, Patricia Bader, Sau Wai Cheung & Paweł Stankiewicz

Low frequency of imprinting defects in ICSI children born small for gestational age

Deniz Kanber — October 22, 2008

Low frequency of imprinting defects in ICSI children born small for gestational age

European Journal of Human Genetics advance online publication, October 22, 2008. doi:10.1038/ejhg.2008.177

Authors: Deniz Kanber, Karin Buiting, Michael Zeschnigk, Michael Ludwig & Bernhard Horsthemke

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

Renata Bocciardi — October 1, 2008

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

European Journal of Human Genetics advance online publication, October 1, 2008. doi:10.1038/ejhg.2008.178

Authors: Renata Bocciardi, Domenico Bordo, Marco Di Duca, Maja Di Rocco & Roberto Ravazzolo

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

Ram Shankar Mani — October 22, 2008

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

European Journal of Human Genetics advance online publication, October 22, 2008. doi:10.1038/ejhg.2008.179

Authors: Ram Shankar Mani, Aparna Ganapathy, Rajeev Jalvi, C R Srikumari Srisailapathy, Vikas Malhotra, Shelly Chadha, Arun Agarwal, Arabandi Ramesh, Raghunath Rao Rangasayee & Anuranjan Anand

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Liesbeth Backx — October 15, 2008

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.180

Authors: Liesbeth Backx, Berten Ceulemans, Joris Robert Vermeesch, Koen Devriendt & Hilde Van Esch

GAB2 is not associated with late-onset Alzheimer's disease in Japanese

Akinori Miyashita — October 15, 2008

GAB2 is not associated with late-onset Alzheimer's disease in Japanese

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.181

Authors: Akinori Miyashita, Hiroyuki Arai, Takashi Asada, Masaki Imagawa, Mikio Shoji, Susumu Higuchi, Katsuya Urakami, Shinichi Toyabe, Kohei Akazawa, Ichiro Kanazawa, Yasuo Ihara & Ryozo Kuwano

SNP frequency estimation using massively parallel sequencing of pooled DNA

Max Ingman — October 15, 2008

SNP frequency estimation using massively parallel sequencing of pooled DNA

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.182

Authors: Max Ingman & Ulf Gyllensten

Identification of ectodysplasin: a receptor gene deletion at 2q12.2 and a potential autosomal MR locus

Bradley L Griggs — October 15, 2008

Identification of ectodysplasin: a receptor gene deletion at 2q12.2 and a potential autosomal MR locus

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.183

Authors: Bradley L Griggs, Sydney Ladd, Amy Decker, Barbara R DuPont, Alexander Asamoah & Anand K Srivastava

A reliable cell-based assay for testing unclassified TSC2 gene variants

Ricardo Coevoets — October 15, 2008

A reliable cell-based assay for testing unclassified TSC2 gene variants

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.184

Authors: Ricardo Coevoets, Sermin Arican, Marianne Hoogeveen-Westerveld, Erik Simons, Ans van den Ouweland, Dicky Halley & Mark Nellist

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers

Elisa Canu — October 15, 2008

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.185

Authors: Elisa Canu, Marina Boccardi, Roberta Ghidoni, Luisa Benussi, Cristina Testa, Michela Pievani, Matteo Bonetti, Giuliano Binetti & Giovanni B Frisoni

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

François M Petit — October 15, 2008

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.186

Authors: François M Petit, Marylise Hébert, Olivier Picone, Sophie Brisset, Marie-Laure Maurin, Frédéric Parisot, Liliane Capel, Clarisse Benattar, Marie-Victoire Sénat, Gérard Tachdjian & Philippe Labrune

Fine-mapping and candidate gene investigation within the PARK10 locus

Kristoffer Haugarvoll — October 15, 2008

Fine-mapping and candidate gene investigation within the PARK10 locus

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.187

Authors: Kristoffer Haugarvoll, Mathias Toft, Lisa Skipper, Michael G Heckman, Julia E Crook, Alexandra Soto, Owen A Ross, Mary M Hulihan, Jennifer M Kachergus, Sigrid B Sando, Linda R White, Timothy Lynch, J Mark Gibson, Ryan J Uitti, Zbigniew K Wszolek, Jan O Aasly & Matthew J Farrer

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Thomas E Neumann — October 15, 2008

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.188

Authors: Thomas E Neumann, Judith Allanson, Ines Kavamura, Bronwyn Kerr, Giovanni Neri, Jacqueline Noonan, Viviana Cordeddu, Kate Gibson, Andreas Tzschach, Gabriele Krüger, Maria Hoeltzenbein, Timm O Goecke, Hans Gerd Kehl, Beate Albrecht, Klaudiusz Luczak, Maria M Sasiadek, Luciana Musante, Rohan Laurie, Hartmut Peters, Marco Tartaglia, Martin Zenker & Vera Kalscheuer

Common inversion polymorphisms and rare microdeletions at 15q13.3

Andrew Makoff — October 15, 2008

Common inversion polymorphisms and rare microdeletions at 15q13.3

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.189

Authors: Andrew Makoff & Rachel Flomen

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Paola Griseri — October 29, 2008

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

European Journal of Human Genetics advance online publication, October 29, 2008. doi:10.1038/ejhg.2008.191

Authors: Paola Griseri, Yvonne Vos, Roberto Giorda, Stefania Gimelli, Silvana Beri, Giuseppe Santamaria, Guendalina Mognato, Robert M W Hofstra, Giorgio Gimelli & Isabella Ceccherini

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Jill Clayton-Smith — October 15, 2008

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.192

Authors: Jill Clayton-Smith, Sarah Walters, Emma Hobson, Emma Burkitt-Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi & Dian Donnai

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

Marina Fanin — October 15, 2008

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.193

Authors: Marina Fanin, Anna Chiara Nascimbeni, Elisabetta Tasca & Corrado Angelini

Screening for replication of genome-wide SNP associations in sporadic ALS

Simon Cronin — November 5, 2008

Screening for replication of genome-wide SNP associations in sporadic ALS

European Journal of Human Genetics advance online publication, November 5, 2008. doi:10.1038/ejhg.2008.194

Authors: Simon Cronin, Barbara Tomik, Daniel G Bradley, Agnieszka Slowik & Orla Hardiman

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Maria Clara Bonaglia — October 15, 2008

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.195

Authors: Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Stefania Bigoni, Alberto Sensi, Anna Baroncini, Antonella Capucci, Cristina De Agostini, Rhian Gwilliam, Panos Deloukas, Ian Dunham & Orsetta Zuffardi

Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion

Andrew R Thompson — October 15, 2008

Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion

European Journal of Human Genetics advance online publication, October 15, 2008. doi:10.1038/ejhg.2008.196

Authors: Andrew R Thompson, Jonathan Golledge, Jackie A Cooper, Hany Hafez, Paul E Norman & Steve E Humphries