Hum. Mol. Genet. -- Human Molecular Genetics Advance Access

Human Molecular Genetics Advance Access

Human Molecular Genetics Advance Access articles are papers in manuscript form that have been accepted by the journal but have not been copyedited or formatted for publication. Copyediting may lead to minor differences between the Advance Access version and the final version of the paper; there may also be differences in the quality of the graphics. More information, including how to cite Advance Access papers, can be found on the Advance Access page.

Advance Access Articles By Date [View by Category]

To see an accepted manuscript, click its [Accepted Manuscript] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

10 May 2008

Abstract Article: Jessica Molina, Paulina Carmona Mora, Jacqueline Chrast, Paola M. Krall, César P. Canales, James R. Lupski, Alexandre Reymond, and Katherina Walz
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski Syndrome
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn148
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Jonathan M. Skarie and Brian A. Link
The primary open-angle glaucoma gene WDR36 functions in ribosomal-RNA processing and interacts with the p53 stress-response pathway
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn147
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article
Katherine E. Burdick, Atsushi Kamiya, Colin A. Hodgkinson, Todd Lencz, Pamela DeRosse, Koko Ishizuka, Sarah Elashvili, Hiroyuki Arai, David Goldman, Akira Sawa, and Anil K. Malhotra
Elucidating the Relationship between DISC1, NDEL1, and NDE1 and the Risk for Schizophrenia: Evidence of Epistasis and Competitive Binding
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn146
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: C. Leigh Pearce, David J. Van Den Berg, Nick Makridakis, Juergen K.V. Reichardt, Ronald K. Ross, Malcolm C. Pike, Laurence N. Kolonel, and Brian E. Henderson
No Association between the SRD5A2 Gene A49T Missense Variant and Prostate Cancer Risk: Lessons Learned
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn145
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Abstract Article
Ashley S. Pawlisz, Christopher Mutch, Anthony Wynshaw-Boris, Anjen Chenn, Christopher A. Walsh, and Yuanyi Feng
Lis1-Nde1 dependent neuronal fate control determines cerebral cortical size and lamination
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn144
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Benjamin M. Hogan, Jeroen Bussmann, Hartwig Wolburg, and Stefan Schulte-Merker
ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish
Human Molecular Genetics Advance Access published on May 10, 2008.
doi:10.1093/hmg/ddn142
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

8 May 2008

Abstract Article: Hasan O. Akman, Beatriz Dorado, Luis C. López, Ángeles García-Cazorla, Maya R. Vilà, Lauren M. Tanabe, William T. Dauer, Eduardo Bonilla, Kurenai Tanji, and Michio Hirano
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Human Molecular Genetics Advance Access published on May 8, 2008.
doi:10.1093/hmg/ddn143
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7 May 2008

Abstract Article
Dominic Furniss, Laura A. Lettice, Indira B. Taylor, Paul S. Critchley, Henk Giele, Robert E. Hill, and Andrew O.M. Wilkie
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
Human Molecular Genetics Advance Access published on May 7, 2008.
doi:10.1093/hmg/ddn141
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Alexander Sumaroka, Alejandro J. Roman, Leigh M. Gardner, Haydn M. Prosser, Monalisa Mishra, N. Torben Bech-Hansen, Waldo Herrera, Sharon B. Schwartz, Xue-Zhong Liu, William J. Kimberling, Karen P. Steel, and David S. Williams
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
Human Molecular Genetics Advance Access published on May 7, 2008.
doi:10.1093/hmg/ddn140
[Abstract] [Accepted Manuscript] [Request Permissions]

30 April 2008

Abstract Article: Mun-Gwan Hong, Chandra Reynolds, Margaret Gatz, Boo Johansson, Jennifer C. Palmer, Harvest F. Gu, Kaj Blennow, Patrick G. Kehoe, Ulf de Faire, Nancy L. Pedersen, and Jonathan A. Prince
Evidence that the Gene Encoding Insulin Degrading Enzyme Influences Human Lifespan
Human Molecular Genetics Advance Access published on April 30, 2008.
doi:10.1093/hmg/ddn137
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

29 April 2008

Abstract Article: Simon C. Warby, Crystal N. Doty, Rona K. Graham, Jeffrey B. Carroll, Yu-Zhou Yang, Roshni R. Singaraja, Christopher M. Overall, and Michael R. Hayden
Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus
Human Molecular Genetics Advance Access published on April 29, 2008.
doi:10.1093/hmg/ddn139
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

ERRATUM: Jincheng Yan, Shi Chen, Yingze Zhang, Xiaohong Li, Yan Li, Xiaohua Wu, Jin Yuan, Alexander G. Robling, Reuben Kapur, Rebecca J. Chan, and Feng-Chun Yang
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1
Human Molecular Genetics Advance Access published on April 29, 2008.
doi:10.1093/hmg/ddn103
[Extract] [Full Text] [Accepted Manuscript] [Request Permissions]

28 April 2008

Abstract Article: Yuexia Wang, Andrey A. Panteleyev, David M. Owens, Karima Djabali, Colin L. Stewart, and Howard J. Worman
Epidermal Expression of the Truncated Prelamin A Causing Hutchinson-Gilford Progeria Syndrome: Effects on Keratinocytes, Hair and Skin
Human Molecular Genetics Advance Access published on April 28, 2008.
doi:10.1093/hmg/ddn136
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Elisabeth A. Lasater, Waylan K. Bessler, Laura E. Mead, Whitney E. Horn, D. Wade Clapp, Simon J. Conway, David A. Ingram, and Fang Li
Nf1 +/- Mice Have Increased Neointima Formation Via Hyperactivation of a Gleevec Sensitive Molecular Pathway
Human Molecular Genetics Advance Access published on April 28, 2008.
doi:10.1093/hmg/ddn134
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Abstract Article: Themistocles L. Assimes, Joshua W. Knowles, Analabha Basu, Carlos Iribarren, Audrey Southwick, Hua Tang, Devin Absher, Jun Li, Joan M. Fair, Geoffrey D. Rubin, Stephen Sidney, Stephen P. Fortmann, Alan S. Go, Mark A. Hlatky, Richard M. Myers, Neil Risch, and Thomas Quertermous
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE Study
Human Molecular Genetics Advance Access published on April 28, 2008.
doi:10.1093/hmg/ddn132
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Guillermo Mariño, Alejandro P. Ugalde, Natalia Salvador-Montoliu, Ignacio Varela, Pedro M. Quirós, Juan Cadiñanos, Ingrid van der Pluijm, José M.P. Freije, and Carlos López-Otín
Premature aging in mice activates a systemic metabolic response involving autophagy induction
Human Molecular Genetics Advance Access published on April 28, 2008.
doi:10.1093/hmg/ddn120
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

27 April 2008

CORRIGENDUM: David Modiano, Germana Bancone, Bianca Maria Ciminelli, Fiorenza Pompei, Isa Blot, Jacques Simporé, and Guido Modiano
Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria
Human Molecular Genetics Advance Access published on April 27, 2008.
doi:10.1093/hmg/ddn111
[Extract] [Full Text] [Accepted Manuscript] [Request Permissions]

22 April 2008

Abstract Article: Xiaoshan Zhou, Nicola Solaroli, Mia Bjerke, James B. Stewart, Björn Rozell, Magnus Johansson, and Anna Karlsson
Progressive loss of mitochondrial DNA in thymidine kinase 2 deficient mice
Human Molecular Genetics Advance Access published on April 22, 2008.
doi:10.1093/hmg/ddn133
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article
Anne Barton, Wendy Thomson, Xiayi Ke, Steve Eyre, Anne Hinks, John Bowes, Laura Gibbons, Darren Plant, Wellcome Trust Case Control Consortium, Anthony G. Wilson, Ioanna Marinou, Ann Morgan, Paul Emery, YEAR consortium, Sophia Steer, Lynne Hocking, David M. Reid, Paul Wordsworth, Pille Harrison, and Jane Worthington
Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility
Human Molecular Genetics Advance Access published on April 22, 2008.
doi:10.1093/hmg/ddn128
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article
Anna Buj-Bello, Françoise Fougerousse, Yannick Schwab, Nadia Messaddeq, Danièle Spehner, Christopher R. Pierson, Muriel Durand, Christine Kretz, Olivier Danos, Anne-Marie Douar, Alan H. Beggs, Patrick Schultz, Marie Montus, Patrice Denèfle, and Jean-Louis Mandel
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Human Molecular Genetics Advance Access originally published on April 22, 2008. This version published April 28, 2008.
doi:10.1093/hmg/ddn112
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

21 April 2008

Abstract Article: Michelle Wehling-Henricks, Sophie Sokolow, Jamie J. Lee, Kyu H. Myung, Armando Villalta, and James G. Tidball
Major basic protein-1 promotes fibrosis of dystrophic muscle and attenuates the cellular immune response in muscular dystrophy
Human Molecular Genetics Advance Access published on April 21, 2008.
doi:10.1093/hmg/ddn129
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Bozena Novotna, Radana Neuwirtova, Magda Siskova, and Yana Bagryantseva
DNA instability in low-risk myelodysplastic syndromes: refractory anemia with or without ring sideroblasts
Human Molecular Genetics Advance Access published on April 21, 2008.
doi:10.1093/hmg/ddn113
[Abstract] [Accepted Manuscript] [Request Permissions]

18 April 2008

Abstract Article
Han-Xiang Deng, Hujun Jiang, Ronggen Fu, Hong Zhai, Yong Shi, Erdong Liu, Makito Hirano, Mauro C. Dal Canto, and Teepu Siddique
Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach
Human Molecular Genetics Advance Access published on April 18, 2008.
doi:10.1093/hmg/ddn131
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article
Cynthia Shannon Weickert, Ana L. Miranda-Angulo, Jenny Wong, William R. Perlman, Sarah E. Ward, Vakkalanka Radhakrishna, Richard E. Straub, Daniel R. Weinberger, and Joel E. Kleinman
Variants in the Estrogen Receptor Alpha Gene and its mRNA Contribute to Risk for Schizophrenia
Human Molecular Genetics Advance Access published on April 18, 2008.
doi:10.1093/hmg/ddn130
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

17 April 2008

Abstract Article
Kuanyu Li, Edward K. Besse, Dung Ha, Gennadiy Kovtunovych, and Tracey A. Rouault
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn127
[Abstract] [Accepted Manuscript] OPEN ACCESS ARTICLE

Abstract Article: Yun-Ping Wu, Kiyomi Mizugishi, Meryem Bektas, Roger Sandhoff, and Richard L. Proia
Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn126
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Dobrawa Napierala, Kathy Sam, Roy Morello, Qiping Zheng, Elda Munivez, Ramesh A. Shivdasani, and Brendan Lee
UNCOUPLING OF CHONDROCYTE DIFFERENTIATION AND PERICHONDRIAL MINERALIZATION UNDERLIES THE SKELETAL DYSPLASIA IN TRICHO-RHINO-PHALANGEAL SYNDROME
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn125
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Andrea Balreira, Paulo Gaspar, Daniel Caiola, João Chaves, Idalina Beirão, José Lopes Lima, Jorge Eduardo Azevedo, and Maria Clara Sá Miranda
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn124
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Lindsay A. Bremer, Scott M. Blackman, Lori L. Vanscoy, Kathryn E. McDougal, Amanda Bowers, Kathleen M. Naughton, David J. Cutler, and Garry R. Cutting
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn123
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Orna Levran, Kimberly O'Hara, Einat Peles, Dawei Li, Sandra Barral, Brenda Ray, Lisa Borg, Jurg Ott, Miriam Adelson, and Mary Jeanne Kreek
ABCB1 (MDR1) Genetic Variants are Associated with Methadone Doses Required for Effective Treatment of Heroin Dependence
Human Molecular Genetics Advance Access published on April 17, 2008.
doi:10.1093/hmg/ddn122
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

15 April 2008

Abstract Article: Detlef Heck, Yu Zhao, Snigdha Roy, Mark S. LeDoux, and Lawrence T. Reiter
Analysis of Cerebellar Function in Ube3a Deficient Mice Reveals Novel Genotype Specific Behaviors
Human Molecular Genetics Advance Access published on April 15, 2008.
doi:10.1093/hmg/ddn117
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article
Saleemah Fahmi, Chendong Yang, Sophie Esmail, Helen H. Hobbs, and Jonathan C. Cohen
Functional Characterization of Genetic Variants in NPC1L1 Supports the Sequencing Extremes Strategy to Identify Complex Trait Genes
Human Molecular Genetics Advance Access published on April 15, 2008.
doi:10.1093/hmg/ddn108
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Sandrine Marquet, Ogobara Doumbo, Sandrine Cabantous, Belco Poudiougou, Laurent Argiro, Innocent Safeukui, Salimata Konate, Sibiri Sissoko, Estelle Chevereau, Abdoulaye Traore, Mamadou M. Keita, Christophe Chevillard, Laurent Abel, and Alain J. Dessein
A functional promoter variant in IL12B predisposes to cerebral malaria
Human Molecular Genetics Advance Access published on April 15, 2008.
doi:10.1093/hmg/ddn118
[Abstract] [Accepted Manuscript] [Request Permissions]

14 April 2008

Abstract Article: Brett T. Chiquet, Susan H. Blanton, Amber Burt, Deqiong Ma, Samuel Stal, John B. Mulliken, and Jacqueline T. Hecht
Variation in WNT Genes is Associated with Nonsyndromic Cleft Lip with or without Cleft Palate
Human Molecular Genetics Advance Access published on April 14, 2008.
doi:10.1093/hmg/ddn121
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Basaran, Flemming Skovby, Raoul C. M. Hennekam, Maria L. Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, Kalle O.J. Simola, Annick Raas-Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, and Ethylin Wang Jabs
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
Human Molecular Genetics Advance Access published on April 14, 2008.
doi:10.1093/hmg/ddn116
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Elli Kyratzi, Maria Pavlaki, and Leonidas Stefanis
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells
Human Molecular Genetics Advance Access published on April 14, 2008.
doi:10.1093/hmg/ddn115
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

10 April 2008

Abstract Article: Anna Rajab, Daniel Kelberman, Sandra CP de Castro, Heike Biebermann, Hala Shaikh, Kerra Pearce, Catherine M. Hall, Guftar Shaikh, Dianne Gerrelli, Annette Grueters, Heiko Krude, and Mehul T. Dattani
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss
Human Molecular Genetics Advance Access published on April 10, 2008.
doi:10.1093/hmg/ddn114
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Floris Bosveld, Anil Rana, Petra E. van der Wouden, Willy Lemstra, Martha Ritsema, Harm H. Kampinga, and Ody C. M. Sibon
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system
Human Molecular Genetics Advance Access published on April 10, 2008.
doi:10.1093/hmg/ddn105
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

7 April 2008

Abstract Article
Louis S. Pymar, Fiona M. Platt, Jon M. Askham, Ewan E. Morrison, and Margaret A. Knowles
Bladder tumour derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms
Human Molecular Genetics Advance Access published on April 7, 2008.
doi:10.1093/hmg/ddn098
[Abstract] [Accepted Manuscript] [Supplementary Data] OPEN ACCESS ARTICLE

Abstract Article: Ivana Matera, Dawn E. Watkins-Chow, Stacie K. Loftus, Ling Hou, Arturo Incao, Debra L. Silver, Cecelia Rivas, Eugene C. Elliott, Laura L. Baxter, and William J. Pavan
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
Human Molecular Genetics Advance Access published on April 7, 2008.
doi:10.1093/hmg/ddn110
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Hélène Catoire, Matthieu Y. Pasco, Aida Abu-Baker, Sébastien Holbert, Cendrine Tourette, Bernard Brais, Guy A. Rouleau, J. Alex Parker, and Christian Néri
Sirtuin Inhibition Protects from the Polyalanine Muscular Dystrophy Protein PABPN1
Human Molecular Genetics Advance Access published on April 7, 2008.
doi:10.1093/hmg/ddn109
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

2 April 2008

Abstract Article: Eva Maria Kohler, Adrian Derungs, Gabriele Daum, Jürgen Behrens, and Jean Schneikert
Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours
Human Molecular Genetics Advance Access published on April 2, 2008.
doi:10.1093/hmg/ddn095
[Abstract] [Accepted Manuscript] [Request Permissions]

1 April 2008

Abstract Article: Lawrence C. S. Tam, Anna-Sophia Kiang, Avril Kennan, Paul F. Kenna, Naomi Chadderton, Marius Ader, Arpad Palfi, Aileen Aherne, Matthew Campbell, Alison Reynolds, Alex McKee, Marian M. Humphries, Jane Farrar, and Pete Humphries
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)
Human Molecular Genetics Advance Access originally published on April 1, 2008. This version published April 4, 2008.
doi:10.1093/hmg/ddn107
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Sandro Alves, Etienne Régulier, Isabel Nascimento-Ferreira, Raymonde Hassig, Noelle Dufour, Arnulf Koeppen, Ana Luísa Carvalho, Sérgio Simões, Maria C. Pedroso de Lima, Emmanuel Brouillet, Veronica Colomer Gould, Nicole Déglon, and Luis Pereira de Almeida
Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease
Human Molecular Genetics Advance Access originally published on April 1, 2008. This version published April 3, 2008.
doi:10.1093/hmg/ddn106
[Abstract] [Accepted Manuscript] [Supplementary Data] [Request Permissions]

Abstract Article: Andrea M. Allan, Xiaomin Liang, Yuping Luo, ChangHui Pak, Xuekun Li, Keith E. Szulwach, Dahua Chen, Peng Jin, and Xinyu Zhao
The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits
Human Molecular Genetics Advance Access published on April 1, 2008.
doi:10.1093/hmg/ddn102
[Abstract] [Accepted Manuscript] [Request Permissions]

Abstract Article: Marwan K. Tayeh, Hsan.-Jan Yen, John S. Beck, Charles C. Searby, Trudi A. Westfall, Hilary Griesbach, Val C. Sheffield, and Diane C. Slusarski
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
Human Molecular Genetics Advance Access published on April 1, 2008.
doi:10.1093/hmg/ddn093
[Abstract] [Accepted Manuscript] [Supplementary Data]