Subgroup―specific structural variation across 1,000 medulloblastoma genomesNORTHCOTT, Paul A; SHIH, David J. H; BEROUKHIM, Rameen et al.Nature (London). 2012, Vol 488, Num 7409, pp 49-56, issn 0028-0836, 8 p.Article

The Common Inversion of the Williams-Beuren Syndrome Region at 7q11.23 Does Not Cause Clinical SymptomsTAM, Elaine; YOUNG, Edwin J; MORRIS, Colleen A et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1797-1806, issn 1552-4825, 10 p.Article

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencingLINES, Matthew A; JOBLING, Rebekah; FERDINANDUSSE, Sacha et al.Neurology. 2014, Vol 82, Num 11, pp 963-968, issn 0028-3878, 6 p.Article

13q13.1-q13.2 deletion in tetralogy of Fallot: Clinical report and a literature reviewCOSTAIN, Gregory; SILVERSIDES, Candice K; MARSHALL, Christian R et al.International journal of cardiology. 2011, Vol 146, Num 2, pp 134-139, issn 0167-5273, 6 p.Article

2q23 De Novo Microdeletion Involving the MBD5 Gene in a Patient With Developmental Delay, Postnatal Microcephaly and Distinct Facial FeaturesCHUNG, Brian H. Y; STAVROPOULOS, James; MARSHALL, Christian R et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 424-429, issn 1552-4825, 6 p.Article

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions : Copy-number variationJOSEPH-GEORGE, Ann M; YONGSHU HE; WINSOR, Elizabeth J. T et al.Journal of medical genetics. 2011, Vol 48, Num 5, pp 317-322, issn 0022-2593, 6 p.Article

Gene and miRNA expression profiles in autism spectrum disordersGHAHRAMANI SENO, Mohammad M; PINGZHAO HU; GWADRY, Fuad G et al.Brain research. 2011, Vol 1380, pp 85-97, issn 0006-8993, 13 p.Article

Characterization of zebrafish (Danio rerio) NCX4 : a novel NCX with distinct electrophysiological propertiesON, Caly; MARSHALL, Christian R; PERRY, Steve F et al.American journal of physiology. Cell physiology. 2009, Vol 65, Num 1, issn 0363-6143, C173-C181Article

Contribution of SHANK3 Mutations to Autism Spectrum DisorderMOESSNER, Rainald; MARSHALL, Christian R; SCHERER, Stephen W et al.American journal of human genetics. 2007, Vol 81, Num 6, pp 1289-1297, issn 0002-9297, 9 p.Article

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum DisorderVAAGS, Andrea K; LIONEL, Anath C; CHRYSLER, Christina et al.American journal of human genetics. 2012, Vol 90, Num 1, pp 133-141, issn 0002-9297, 9 p.Article

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeWILLEMSEN, Marjolein H; FERNANDEZ, Bridget A; VAN BOKHOVEN, Hans et al.European journal of human genetics. 2010, Vol 18, Num 4, pp 429-435, issn 1018-4813, 7 p.Article

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11MARSHALL, Christian R; YOUNG, Edwin J; PRIOLO, Manuela et al.American journal of human genetics. 2008, Vol 83, Num 1, pp 106-111, issn 0002-9297, 6 p.Article

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromeBASSETT, Anne S; MARSHALL, Christian R; LIONEL, Anath C et al.Human molecular genetics (Print). 2008, Vol 17, Num 24, pp 4045-4053, issn 0964-6906, 9 p.Article

Duplication of 17(p11.2p11.2) in a Male Child With Autism and Severe Language DelayNAKAMINE, Alisa; OUCHANOV, Leonid; MARSHALL, Christian R et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 5, pp 636-643, issn 1552-4825, 8 p.Article

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus EpilepsyANDRADE, Danielle M; PATON, Tara; TURNBULL, Julie et al.Pediatric neurology. 2012, Vol 47, Num 3, pp 205-208, issn 0887-8994, 4 p.Article

SHANK1 Deletions in Males with Autism Spectrum DisorderSATO, Daisuke; LIONEL, Anath C; MICHAUD, Jacques L et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 879-887, issn 0002-9297, 9 p.Article

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationBERKEL, Simone; MARSHALL, Christian R; BONIN, Michael et al.Nature genetics. 2010, Vol 42, Num 6, pp 489-491, issn 1061-4036, 3 p.Article

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorderFERNANDEZ, Bridget A; ROBERTS, Wendy; VARDY, Cathy et al.Journal of medical genetics. 2010, Vol 47, Num 3, pp 195-203, issn 0022-2593, 9 p.Article

Structural variants : changing the landscape of chromosomes and design of disease studiesFEUK, Lars; MARSHALL, Christian R; WINTLE, Richard F et al.Human molecular genetics (Print). 2006, Vol 15, issn 0964-6906, R57-R66, NSArticle

Severe intellectual disability and autistic features associated with microduplication 2q23.1CHUNG, Brian Hy; MULLEGAMA, Sureni; JAMES STAVROPOULOS, D et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 398-403, issn 1018-4813, 6 p.Article

Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and ObesityERNST, Carl; MARSHALL, Christian R; CRAPPER, Liam et al.Archives of general psychiatry. 2012, Vol 69, Num 12, pp 1238-1246, issn 0003-990X, 9 p.Article

Structural Variation of Chromosomes in Autism Spectrum DisorderMARSHALL, Christian R; NOOR, Abdul; THIRUVAHINDRAPDURAM, Bhooma et al.American journal of human genetics. 2008, Vol 82, Num 2, pp 477-488, issn 0002-9297, 12 p.Article

Global variation in copy number in the human genomeREDON, Richard; ISHIKAWA, Shumpei; EUN KYUNG CHO et al.Nature (London). 2006, Vol 444, Num 7118, pp 444-454, issn 0028-0836, 11 p.Article

Temperature dependence of cloned mammalian and salmonid cardiac Na⁺/Ca²⁺ exchanger isoformsELIAS, Chadwick L; XUE, Xiao-Hua; MARSHALL, Christian R et al.American journal of physiology. Cell physiology. 2001, Vol 50, Num 3, pp C993-C1000, issn 0363-6143Article

Ca²⁺ binding to cardiac troponin C : effects of temperature and pH on mammalian and salmonid isoformsGILLIS, Todd E; MARSHALL, Christian R; XUE, Xiao-Hua et al.American journal of physiology. Regulatory, integrative and comparative physiology. 2000, Vol 48, Num 5, pp R1707-R1715, issn 0363-6119Article