ADVANCE ONLINE PUBLICATION
The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
About advance online publication
October 21 2009 |
October 14 2009 |
October 7 2009 |
September 30 2009 |
September 9 2009 |
September 2 2009 |
August 26 2009 |
August 19 2009 |
August 12 2009 |
August 5 2009 |
July 29 2009 |
July 22 2009 |
July 15 2009 |
July 8 2009 |
July 1 2009 |
June 24 2009 |
June 17 2009 |
June 10 2009 |
June 3 2009 |
May 27 2009 |
May 13 2009
November 4 2009
Practical Genetics
Coffin–Lowry syndrome FREE
Patricia Marques Pereira, Anne Schneider, Solange Pannetier, Delphine Heron and André Hanauer
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.189
Menkes disease FREE
Zeynep Tümer and Lisbeth B Møller
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.187
Policy
Ethical implications of the use of whole genome methods in medical research EJHGOpen
Jane Kaye, Paula Boddington, Jantina de Vries, Naomi Hawkins and Karen Melham
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.191
Letters
Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment
Francisco José Fernández-Fernández
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.188
Reply to Fernandez-Fernandez
Claire L Shovlin and Fatima S Govani
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.197
Articles
Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population)
Marta Garaulet, Yu-Chi Lee, Jian Shen, Laurence D Parnell, Donna K Arnett, Michael Y Tsai, Chao-Qiang Lai and Jose M Ordovas
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.176
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei
Peter S Masny, On Ying A Chan, Jessica C de Greef, Ulla Bengtsson, Melanie Ehrlich, Rabi Tawil, Leslie F Lock, Jane E Hewitt, Jennifer Stocksdale, Jorge H Martin, Silvere M van der Maarel and Sara T Winokur
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.183
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families
Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King and Moien Kanaan
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.190
Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a
Peter A Underhill, Natalie M Myres, Siiri Rootsi, Mait Metspalu, Lev A Zhivotovsky, Roy J King, Alice A Lin, Cheryl-Emiliane T Chow, Ornella Semino, Vincenza Battaglia, Ildus Kutuev, Mari Järve, Gyaneshwer Chaubey, Qasim Ayub, Aisha Mohyuddin, S Qasim Mehdi, Sanghamitra Sengupta, Evgeny I Rogaev, Elza K Khusnutdinova, Andrey Pshenichnov, Oleg Balanovsky, Elena Balanovska, Nina Jeran, Dubravka Havas Augustin, Marian Baldovic, Rene J Herrera, Kumarasamy Thangaraj, Vijay Singh, Lalji Singh, Partha Majumder, Pavao Rudan, Dragan Primorac, Richard Villems and Toomas Kivisild
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.194
High-throughput sequencing of microdissected chromosomal regions
Anja Weise, Bernd Timmermann, Manfred Grabherr, Martin Werber, Patricia Heyn, Nadezda Kosyakova, Thomas Liehr, Heidemarie Neitzel, Kateryna Konrat, Christiane Bommer, Carola Dietrich, Anna Rajab, Richard Reinhardt, Stefan Mundlos, Tom H Lindner and Katrin Hoffmann
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.196
Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
Marian AJ Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny PA Samijn, W Ludo van der Pol, Farid Meggouh and Frank Baas
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.186
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects
Vinciane Wouters, Nisha Limaye, Melanie Uebelhoer, Alexandre Irrthum, Laurence M Boon, John B Mulliken, Odile Enjolras, Eulalia Baselga, Jonathan Berg, Anne Dompmartin, Sten A Ivarsson, Loshan Kangesu, Yves Lacassie, Jill Murphy, Ahmad S Teebi, Anthony Penington, Paul Rieu and Miikka Vikkula
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.193
Short Report
A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis
Inger-Lise Mero, Åslaug R Lorentzen, Maria Ban, Cathrine Smestad, Elisabeth G Celius, Jan H Aarseth, Kjell-Morten Myhr, Jenny Link, Jan Hillert, Tomas Olsson, Ingrid Kockum, Thomas Masterman, Annette Bang Oturai, Helle Bach Søndergaard, Finn Sellebjerg, Janna Saarela, Anu Kemppinen, Irina Elovaara, Anne Spurkland, Frank Dudbridge, Benedicte A Lie and Hanne F Harbo
Eur J Hum Genet advance online publication, November 4, 2009; doi:10.1038/ejhg.2009.195
October 21 2009
News and Commentary
Long time no see: the Type and Contre-type concept FREE
Giovanni Neri and Francesca Romana Di Raimo
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.171
Articles
European admixture on the Micronesian island of Kosrae: lessons from complete genetic information EJHGOpen
Penelope E Bonnen, Jennifer K Lowe, David M Altshuler, Jan L Breslow, Markus Stoffel, Jeffrey M Friedman and Itsik Pe'er
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.180
Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
Zari Dastani, Päivi Pajukanta, Michel Marcil, Nicholas Rudzicz, Isabelle Ruel, Swneke D Bailey, Jenny C Lee, Mathieu Lemire, Janet Faith, Jill Platko, John Rioux, Thomas J Hudson, Daniel Gaudet, James C Engert and Jacques Genest
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.157
Genomic landscape of positive natural selection in Northern European populations
Tuuli Lappalainen, Elina Salmela, Peter M Andersen, Karin Dahlman-Wright, Pertti Sistonen, Marja-Liisa Savontaus, Stefan Schreiber, Päivi Lahermo and Juha Kere
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.184
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth
Valérie Malan, Suzanne Chevallier, Gwendoline Soler, Christine Coubes, Didier Lacombe, Laurent Pasquier, Jean Soulier, Nicole Morichon-Delvallez, Catherine Turleau, Arnold Munnich, Serge Romana, Michel Vekemans, Valérie Cormier-Daire and Laurence Colleaux
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.162
Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana
Linda May, David van Bodegom, Marijke Frölich, Lisette van Lieshout, P Eline Slagboom, Rudi GJ Westendorp and Maris Kuningas
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.182
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, Luis A Pérez Jurado, Claudia Izzi, Maria Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante and Giuseppe Merla
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.181
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
Sandesh Chakravarthy Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah Cox, Lefkothea Karaviti, Margret Pearson, Sung-Hae L Kang, Trilochan Sahoo, Seema R Lalani, Pawel Stankiewicz, V Reid Sutton and Sau Wai Cheung
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.174
Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes
Irene Pichler, Christian Fuchsberger, Christa Platzer, Minal Çali
kan, Fabio Marroni, Peter P Pramstaller and Carole Ober
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.172
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
Marlène Rio, Valérie Malan, Sarah Boissel, Annick Toutain, Ghislaine Royer, Stéphanie Gobin, Nicole Morichon-Delvallez, Catherine Turleau, Jean-Paul Bonnefont, Arnold Munnich, Michel Vekemans and Laurence Colleaux
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.159
Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach
Lucia Sobrin, Julian B Maller, Benjamin M Neale, Robyn C Reynolds, Jesen A Fagerness, Mark J Daly and Johanna M Seddon
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.185
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, Luitgard M Graul-Neumann, Heidemarie Neitzel, Stephanie Page, Alischo Ahmed, Ines Müller, Fikret Erdogan, Hans-Hilger Ropers, Vera M Kalscheuer and Reinhard Ullmann
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.163
Short Report
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
Luis M Franco, Thomy de Ravel, Brett H Graham, Stephanie M Frenkel, Jozef Van Driessche, Pawel Stankiewicz, James R Lupski, Joris R Vermeesch and Sau Wai Cheung
Eur J Hum Genet advance online publication, October 21, 2009; doi:10.1038/ejhg.2009.164
October 14 2009
Articles
The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations
Jacques Chiaroni, Roy J King, Natalie M Myres, Brenna M Henn, Axel Ducourneau, Michael J Mitchell, Gilles Boetsch, Issa Sheikha, Alice A Lin, Mahnoosh Nik-Ahd, Jabeen Ahmad, Francesca Lattanzi, Rene J Herrera, Muntaser E Ibrahim, Aaron Brody, Ornella Semino, Toomas Kivisild and Peter A Underhill
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.166
Comparison of participant information and informed consent forms of five European studies in genetic isolated populations
Deborah Mascalzoni, A Cecile JW Janssens, Alison Stewart, Peter Pramstaller, Ulf Gyllensten, Igor Rudan, Cornelia M van Duijn, James F Wilson, Harry Campbell and Ruth Mc Quillan on behalf of the EUROSPAN consortium
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.155
Large-scale parent–child comparison confirms a strong paternal influence on telomere length
Katarina Nordfjäll, Ulrika Svenson, Karl-Fredrik Norrback, Rolf Adolfsson and Göran Roos
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.178
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset
Andreas Plaitakis, Helen Latsoudis, Konstantinos Kanavouras, Beate Ritz, Jeff M Bronstein, Irene Skoula, Vasileios Mastorodemos, Spyridon Papapetropoulos, Nikolas Borompokas, Ioannis Zaganas, Georgia Xiromerisiou, George M Hadjigeorgiou and Cleanthe Spanaki
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.179
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
Sinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, Anna Hackett, Sarah Edkins, F Lucy Raymond, Charles E Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P Andrew Futreal, Michael R Stratton and Jozef Gecz
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.175
Sporadic cases are the norm for complex disease
Jian Yang, Peter M Visscher and Naomi R Wray
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.177
Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis
Ke Yu, Jing Zhang, Jiyuan Zhang, Chao Dou, Shaohua Gu, Yi Xie, Yumin Mao and Chaoneng Ji
Eur J Hum Genet advance online publication, October 14, 2009; doi:10.1038/ejhg.2009.131
October 7 2009
Review
Progress in therapeutic antisense applications for neuromuscular disorders
Annemieke Aartsma-Rus and Gert-Jan B van Ommen
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.160
Letters
Prader–Willi and Angelman syndromes: genetic counseling
Cristina Camprubí, Maria Dolors Coll, Elisabeth Gabau and Míriam Guitart
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.170
Reply to Camprubí et al
Suzanne B Cassidy and Daniel J Driscoll
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.153
Articles
A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits
Nadezhda M Belonogova, Tatiana I Axenovich and Yurii S Aulchenko
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.167
Study of smell and reproductive organs in a mouse model for CHARGE syndrome EJHGOpen
Jorieke EH Bergman, Erika A Bosman, Conny MA van Ravenswaaij-Arts and Karen P Steel
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.158
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, Maria Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey and Bruno Dallapiccola
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.154
Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis
Kirsten F L Douma, Neil K Aaronson, Hans F A Vasen, Senno Verhoef, Chad M Gundy and Eveline M A Bleiker
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.151
Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations
Muthukrishnan Eaaswarkhanth, Ikramul Haque, Zeinab Ravesh, Irene Gallego Romero, Poorlin Ramakodi Meganathan, Bhawna Dubey, Faizan Ahmed Khan, Gyaneshwer Chaubey, Toomas Kivisild, Chris Tyler-Smith, Lalji Singh and Kumarasamy Thangaraj
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.168
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3
Fadil M Hannan, M Andrew Nesbit, Jeremy J O Turner, Joanna M Stacey, Luisella Cianferotti, Paul T Christie, Arthur D Conigrave, Michael P Whyte and Rajesh V Thakker
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.161
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
Rinse Klooster, Kirsten Straasheijm, Bharati Shah, Janet Sowden, Rune Frants, Charles Thornton, Rabi Tawil and Silvère van der Maarel
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.62
Understanding sickle cell carrier status identified through newborn screening: a qualitative study
Fiona A Miller, Martha Paynter, Robin Z Hayeems, Julian Little, June C Carroll, Brenda J Wilson, Judith Allanson, Jessica P Bytautas and Pranesh Chakraborty
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.173
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
Margarita Muiños-Gimeno, Magda Montfort, Mònica Bayés, Xavier Estivill and Yolanda Espinosa-Parrilla
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.165
Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects
Paulien Smits, Sandy Mattijssen, Eva Morava, Mariël van den Brand, Frans van den Brandt, Frits Wijburg, Ger Pruijn, Jan Smeitink, Leo Nijtmans, Richard Rodenburg and Lambert van den Heuvel
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.169
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi and Bert BA de Vries
Eur J Hum Genet advance online publication, October 7, 2009; doi:10.1038/ejhg.2009.152
September 30 2009
Short Report
Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study
Thomas Heiberg Brix, Pia Skov Hansen, Kirsten Ohm kyvik and Laszlo Hegedüs
Eur J Hum Genet advance online publication, September 30, 2009; doi:10.1038/ejhg.2009.156
September 9 2009
Article
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)
Tod Fullston, Louise Brueton, Tracey Willis, Sunny Philip, Lesley MacPherson, Merran Finnis, Jozef Gecz and Jenny Morton
Eur J Hum Genet advance online publication, September 9, 2009; doi:10.1038/ejhg.2009.139
September 2 2009
Article
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level
Javier Sanz, Thomas von Känel, Mircea Schneider, Bernhard Steiner, André Schaller and Sabina Gallati
Eur J Hum Genet advance online publication, September 2, 2009; doi:10.1038/ejhg.2009.140
August 26 2009
Articles
An integrated phenomic approach to multivariate allelic association
Sarah Elizabeth Medland and Michael Churton Neale
Eur J Hum Genet advance online publication, August 26, 2009; doi:10.1038/ejhg.2009.133
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder
Rinus Vegt, Aida M Bertoli-Avella, Joke H M Tulen, Bianca de Graaf, Annemieke J M H Verkerk, Jeroen Vervoort, Carla M Twigt, Anneke Maat-Kievit, Ruud van Tuijl, Marieke van der Lijn, Michiel W Hengeveld and Ben A Oostra
Eur J Hum Genet advance online publication, August 26, 2009; doi:10.1038/ejhg.2009.148
August 19 2009
Articles
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5
Christine E Briggs, Chao-Yu Guo, Cynthia Schoettler, Ilina Rosoklija, Andres Silva, Stuart B Bauer, Alan B Retik, Louis Kunkel and Hiep T Nguyen
Eur J Hum Genet advance online publication, August 19, 2009; doi:10.1038/ejhg.2009.142
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease
Dariusz Dziedzic, Grzegorz W
grzyn and Joanna Jakóbkiewicz-Banecka
Eur J Hum Genet advance online publication, August 19, 2009; doi:10.1038/ejhg.2009.144
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
Xenia Kaidonis, Wan Chin Liaw, Ainslie Derrick Roberts, Marleesa Ly, Donald Anson and Sharon Byers
Eur J Hum Genet advance online publication, August 19, 2009; doi:10.1038/ejhg.2009.143
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis
Ming-Wei Lin, Ding-Dar Lee, Tze-Tze Liu, Yong-Feng Lin, Shang-Yi Chen, Chih-Cheng Huang, Hui-Ying Weng, Yu-Fen Liu, Akio Tanaka, Ken Arita, Joey Lai-Cheong, Francis Palisson, Yun-Ting Chang, Chu-Kwan Wong, Isao Matsuura, John A McGrath and Shih-Feng Tsai
Eur J Hum Genet advance online publication, August 19, 2009; doi:10.1038/ejhg.2009.135
Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings
Alex Wilde, Bettina Meiser, Philip B Mitchell and Peter R Schofield
Eur J Hum Genet advance online publication, August 19, 2009; doi:10.1038/ejhg.2009.138
August 12 2009
Article
Association of the TGF-
receptor genes with abdominal aortic aneurysm
A F Baas, J Medic, R van 't Slot, C G de Kovel, A Zhernakova, R H Geelkerken, S E Kranendonk, S M van Sterkenburg, D E Grobbee, A P Boll, C Wijmenga, J D Blankensteijn and Y M Ruigrok
Eur J Hum Genet advance online publication, August 12, 2009; doi:10.1038/ejhg.2009.141
Short Report
Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers
Imke Christiaans, Tjitske M Kok, Irene M van Langen, Erwin Birnie, Gouke J Bonsel, Arthur A M Wilde and Ellen M A Smets
Eur J Hum Genet advance online publication, August 12, 2009; doi:10.1038/ejhg.2009.145
August 5 2009
Letters
Reply to Reijmerink et al
Sreekumar G Pillai
Eur J Hum Genet advance online publication, August 5, 2009; doi:10.1038/ejhg.2009.130
The candidate gene approach in asthma: what happens with the neighbours?
Naomi E Reijmerink, Dirkje S Postma and Gerard H Koppelman
Eur J Hum Genet advance online publication, August 5, 2009; doi:10.1038/ejhg.2009.128
July 29 2009
Viewpoint
The common biological basis for common complex diseases: evidence from lipoprotein lipase gene
Cui Xie, Zeng Chan Wang, Xiao Feng Liu and Mao Sheng Yang
Eur J Hum Genet advance online publication, July 29, 2009; doi:10.1038/ejhg.2009.134
Articles
Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals
Friederike Flachsbart, Amke Caliebe, Michael Nothnagel, Rabea Kleindorp, Susanna Nikolaus, Stefan Schreiber and Almut Nebel
Eur J Hum Genet advance online publication, July 29, 2009; doi:10.1038/ejhg.2009.136
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients
Sabrina Titze, Hartmut Peters, Sandra Währisch, Thomas Harder, Katrin Guse, Annegret Buske, Sigrid Tinschert and Anja Harder
Eur J Hum Genet advance online publication, July 29, 2009; doi:10.1038/ejhg.2009.129
July 22 2009
News and Commentary
APOC3 deficiency: from mice to man FREE
Marten H Hofker
Eur J Hum Genet advance online publication, July 22, 2009; doi:10.1038/ejhg.2009.126
Practical Genetics
Septo-optic dysplasia FREE
Emma A Webb and Mehul T Dattani
Eur J Hum Genet advance online publication, July 22, 2009; doi:10.1038/ejhg.2009.125
Articles
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature
Francois Dominique Jacob, Vijay Ramaswamy, John Andersen and Francois V Bolduc
Eur J Hum Genet advance online publication, July 22, 2009; doi:10.1038/ejhg.2009.95
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis
Gabriele Mues, Aubry Tardivel, Laure Willen, Hitesh Kapadia, Robyn Seaman, Sylvia Frazier-Bowers, Pascal Schneider and Rena N D'Souza
Eur J Hum Genet advance online publication, July 22, 2009; doi:10.1038/ejhg.2009.127
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
Martin Poot, Marc J Eleveld, Ruben van 't Slot, Hans Kristian Ploos van Amstel and Ron Hochstenbach
Eur J Hum Genet advance online publication, July 22, 2009; doi:10.1038/ejhg.2009.120
July 15 2009
Letter
Support for the involvement of complement factor I in age-related macular degeneration
Sarah Ennis, Jane Gibson, Angela J Cree, Andrew Collins and Andrew J Lotery
Eur J Hum Genet advance online publication, July 15, 2009; doi:10.1038/ejhg.2009.113
Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, Rosa Lomastro, Sonia Messina, Claudio Bruno, Antonella Pini, Marika Pane, Adele D'Amico, Alessandro Ghezzo, Enrico Bertini, Eugenio Mercuri, Giovanni Neri and Christina Brahe
Eur J Hum Genet advance online publication, July 15, 2009; doi:10.1038/ejhg.2009.116
Short Reports
In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome
Samuel Bellais, Carine Le Goff, Nathalie Dagoneau, Arnold Munnich and Valérie Cormier-Daire
Eur J Hum Genet advance online publication, July 15, 2009; doi:10.1038/ejhg.2009.122
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3
Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, Nazir Ahmed, Ahmad Usman Zafar, Atteeq Ur Rehman, Robert J Morell, Andrew J Griffith, Zubair M Ahmed, Sheikh Riazuddin and Thomas B Friedman
Eur J Hum Genet advance online publication, July 15, 2009; doi:10.1038/ejhg.2009.121
July 8 2009
Practical Genetics
Caveolinopathies: from the biology of caveolin-3 to human diseases FREE
Elisabetta Gazzerro, Federica Sotgia, Claudio Bruno, Michael P Lisanti and Carlo Minetti
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.103
Articles
Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men
Céline Chalas Boissonnas, Hafida El Abdalaoui, Virginie Haelewyn, Patricia Fauque, Jean Michel Dupont, Ivo Gut, Daniel Vaiman, Pierre Jouannet, Jörg Tost and Hélène Jammes
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.117
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family
Erik F Hensen, Jeroen C Jansen, Maaike D Siemers, Jan C Oosterwijk, Annette HJT Vriends, Eleonora PM Corssmit, Jean-Pierre Bayley, Andel GL van der Mey, Cees J Cornelisse and Peter Devilee
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.112
On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors
Rémi Kazma, Catherine Bonaïti-Pellié, Jill M Norris and Emmanuelle Génin
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.119
Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island
Stuart Macgregor, Claire Bellis, Rod A Lea, Hannah Cox, Tom Dyer, John Blangero, Peter M Visscher and Lyn R Griffiths
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.111
Gene and pathway-based second-wave analysis of genome-wide association studies
Gang Peng, Li Luo, Hoicheong Siu, Yun Zhu, Pengfei Hu, Shengjun Hong, Jinying Zhao, Xiaodong Zhou, John D Reveille, Li Jin, Christopher I Amos and Momiao Xiong
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.115
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects
Esther Pomares, Marina Riera, Jon Permanyer, Pilar Méndez, Joaquín Castro-Navarro, Ángeles Andrés-Gutiérrez, Gemma Marfany and Roser Gonzàlez-Duarte
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.114
A comprehensive approach to haplotype-specific analysis by penalized likelihood
Jung-Ying Tzeng and Howard D Bondell
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.118
Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany
Anke Tönjes, Eleftheria Zeggini, Peter Kovacs, Yvonne Böttcher, Dorit Schleinitz, Kerstin Dietrich, Andrew P Morris, Beate Enigk, Nigel W Rayner, Moritz Koriath, Markus Eszlinger, Anu Kemppinen, Inga Prokopenko, Katrin Hoffmann, Daniel Teupser, Joachim Thiery, Knut Krohn, Mark I McCarthy and Michael Stumvoll
Eur J Hum Genet advance online publication, July 8, 2009; doi:10.1038/ejhg.2009.107
July 1 2009
Practical Genetics
Triple X syndrome: a review of the literature FREE
Maarten Otter, Constance TRM Schrander-Stumpel and Leopold MG Curfs
Eur J Hum Genet advance online publication, July 1, 2009; doi:10.1038/ejhg.2009.109
Articles
An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient
Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, Elisa Biamino, Bartolomeo Augello, Carmela Fusco, Maria Giuseppina Turturo, Serena Forzano, Alexandre Reymond and Giuseppe Merla
Eur J Hum Genet advance online publication, July 1, 2009; doi:10.1038/ejhg.2009.108
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing
Wenke Seifert, Julia Beninde, Katrin Hoffmann, Tom H Lindner, Christian Bassir, Fuat Aksu, Christoph Hübner, Nienke E Verbeek, Stefan Mundlos and Denise Horn
Eur J Hum Genet advance online publication, July 1, 2009; doi:10.1038/ejhg.2009.104
June 24 2009
Practical Genetics
Beckwith–Wiedemann syndrome FREE
Rosanna Weksberg, Cheryl Shuman and J Bruce Beckwith
Eur J Hum Genet advance online publication, June 24, 2009; doi:10.1038/ejhg.2009.106
Articles
Comparing population structure as inferred from genealogical versus genetic information
Vincenza Colonna, Teresa Nutile, Ronald R Ferrucci, Giulio Fardella, Mario Aversano, Guido Barbujani and Marina Ciullo
Eur J Hum Genet advance online publication, June 24, 2009; doi:10.1038/ejhg.2009.97
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis
Fleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, Ann Dalton, Ernie M H F Bongers, Jiddeke M van de Kamp, Yvonne Hilhorst-Hofstee, Nicolette S Den Hollander, Augusta M A Lachmeijer, Carlo L Marcelis, Gita M B Tan-Sindhunata, Rick R van Rijn, Hanne Meijers-Heijboer, Jan M Cobben and Gerard Pals
Eur J Hum Genet advance online publication, June 24, 2009; doi:10.1038/ejhg.2009.75
June 17 2009
Letters
On the origin of Y-chromosome haplogroup N1b
Boris Malyarchuk and Miroslava Derenko
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.100
Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins
Sheyla Mirabal, Peter A Underhill and Rene J Herrera
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.101
Articles
Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study
Georg B Ehret, Ashley A O'Connor, Alan Weder, Richard S Cooper and Aravinda Chakravarti
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.94
Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis
Lei Gao, Alexandra Nieters and Hermann Brenner
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.102
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)
Janina Hantke, David Chandler, Rosalind King, Ronald JA Wanders, Dora Angelicheva, Ivailo Tournev, Elyshia McNamara, Marcel Kwa, Velina Guergueltcheva, Radka Kaneva, Frank Baas and Luba Kalaydjieva
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.99
Short Report
Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia
Uljana A Boyarskikh, Natalja A Zarubina, Julia A Biltueva, Tatjana V Sinkina, Elena N Voronina, Aleksander F Lazarev, Valentina D Petrova, Yurii S Aulchenko and Maxim L Filipenko
Eur J Hum Genet advance online publication, June 17, 2009; doi:10.1038/ejhg.2009.98
June 10 2009
Practical Genetics
Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations FREE
Zeynep Tümer and Daniella Bach-Holm
Eur J Hum Genet advance online publication, June 10, 2009; doi:10.1038/ejhg.2009.93
Articles
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
Jet Bliek, Marielle Alders, Saskia M Maas, Roelof-Jan Oostra, Deborah M Mackay, Karin van der Lip, Johnatan L Callaway, Alice Brooks, Sandra van 't Padje, Andries Westerveld, Nico J Leschot and Marcel MAM Mannens
Eur J Hum Genet advance online publication, June 10, 2009; doi:10.1038/ejhg.2009.77
A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
Remko Hersmus, Bertie HCGM de Leeuw, Hans Stoop, Pascal Bernard, Helena C van Doorn, Hennie T Brüggenwirth, Stenvert LS Drop, J Wolter Oosterhuis, Vincent R Harley and Leendert HJ Looijenga
Eur J Hum Genet advance online publication, June 10, 2009; doi:10.1038/ejhg.2009.96
June 3 2009
Articles
Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies
Wensen Chen, Sumin Wang, Tian Tian, Jianling Bai, Zhibin Hu, Yan Xu, Jing Dong, Feng Chen, Xinru Wang and Hongbing Shen
Eur J Hum Genet advance online publication, June 3, 2009; doi:10.1038/ejhg.2009.86
Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium
David W Fardo, K David Becker, Lars Bertram, Rudolph E Tanzi and Christoph Lange
Eur J Hum Genet advance online publication, June 3, 2009; doi:10.1038/ejhg.2009.85
May 27 2009
Articles
Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice
Annelien Bredenoord, Wybo Dondorp, Guido Pennings, Christine de Die-Smulders, Bert Smeets and Guido de Wert
Eur J Hum Genet advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.88
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
Hartmut Engels, Eva Wohlleber, Alexander Zink, Juliane Hoyer, Kerstin U Ludwig, Felix F Brockschmidt, Dagmar Wieczorek, Ute Moog, Birgit Hellmann-Mersch, Ruthild G Weber, Lionel Willatt, Martina Krei
-Nachtsheim, Helen V Firth and Anita Rauch
Eur J Hum Genet advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.90
Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results
Joanna Stjernschantz Forsberg, Mats G Hansson and Stefan Eriksson
Eur J Hum Genet advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.87
DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm EJHGOpen
Hisato Kobayashi, Hitoshi Hiura, Rosalind M John, Akiko Sato, Eiko Otsu, Naoko Kobayashi, Rei Suzuki, Fumihiko Suzuki, Chika Hayashi, Takafumi Utsunomiya, Nobuo Yaegashi and Takahiro Arima
Eur J Hum Genet advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.68
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome
Sadia Nawaz, Joakim Klar, Muhammad Wajid, Muhammad Aslam, Muhammad Tariq, Jens Schuster, Shahid Mahmood Baig and Niklas Dahl
Eur J Hum Genet advance online publication, May 27, 2009; doi:10.1038/ejhg.2009.81
May 13 2009
Short Report
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
Magali Taulan, Caroline Guittard, Corinne Theze, Mireille Claustres and Marie des Georges
Eur J Hum Genet advance online publication, May 13, 2009; doi:10.1038/ejhg.2009.73
