Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplicationsHERZING, Laura B. K; COOK, Edwin H; LEDBETTER, David H et al.Human molecular genetics (Print). 2002, Vol 11, Num 15, pp 1707-1718, issn 0964-6906Article

Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous TraitCHASTE, Pauline; KLEI, Lambertus; GESCHWIND, Daniel et al.Biological psychiatry (1969). 2013, Vol 74, Num 8, pp 576-584, issn 0006-3223, 9 p.Article

Mitotic and meiotic instability of a telomere association involving the Y chromosomeBING HUANG; MARTIN, Christa Lese; SANDLIN, Constance J et al.American journal of medical genetics. 2004, Vol 129A, Num 2, pp 120-123, issn 0148-7299, 4 p.Article

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesD'AGOSTINO, Maria Daniela; BERNASCONI, Andrea; DRAVET, Charlotte et al.Brain. 2002, Vol 125, pp 2507-2522, issn 0006-8950, 16 p., 11Article

Chromosomal Microarray versus Karyotyping for Prenatal DiagnosisWAPNER, Ronald J; LESE MARTIN, Christa; KLUGMAN, Susan et al.The New England journal of medicine. 2012, Vol 367, Num 23, pp 2175-2184, issn 0028-4793, 10 p.Article

Mechanisms and Consequences of Small Supernumerary Marker Chromosomes : From Barbara McClintock to Modern Genetic-Counseling IssuesBALDWIN, Erin L; MAY, Lorraine F; JUSTICE, April N et al.American journal of human genetics. 2008, Vol 82, Num 2, pp 398-410, issn 0002-9297, 13 p.Article

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32RAMOCKI, Melissa B; DOWLING, James; MILLEN, Kathleen J et al.European journal of human genetics. 2003, Vol 11, Num 7, pp 527-534, issn 1018-4813, 8 p.Article

The evolutionary origin of human subtelomeric homologies-or where the ends beginMARTIN, Christa Lese; WONG, Andrew; GROSS, Alyssa et al.American journal of human genetics. 2002, Vol 70, Num 4, pp 972-984, issn 0002-9297Article

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. CommentarySTEPHAN, Dietrich A; ALARCON, Maricela; LEDBETTER, David H et al.American journal of human genetics. 2008, Vol 82, Num 1, issn 0002-9297, 7-9, 150-159 [13 p.]Article

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23SUGAWARA, Hirobumi; HARADA, Naoki; IDA, Tomoko et al.Genomics (San Diego, Calif.). 2003, Vol 82, Num 2, pp 238-244, issn 0888-7543, 7 p.Article

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneCARDOSO, Carlos; LEVENTER, Richard J; PILZ, Daniela T et al.Human molecular genetics (Print). 2000, Vol 9, Num 20, pp 3019-3028, issn 0964-6906Article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersZUFFEREY, Flore; SHERR, Elliott H; AYLWARD, Elizabeth et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 660-668, issn 0022-2593, 9 p.Article

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilityMORENO-DE-LUCA, Andres; HELMERS, Sandra L; HUI MAO et al.Journal of medical genetics. 2011, Vol 48, Num 2, pp 141-144, issn 0022-2593, 4 p.Article

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3CARDOSO, Carlos; LEVENTER, Richard J; MUTCHINICK, Osvaldo M et al.American journal of human genetics. 2003, Vol 72, Num 4, pp 918-930, issn 0002-9297, 13 p.Article

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14UNGARO, Paola; CHRISTIAN, Susan L; FANTES, Judy A et al.Journal of medical genetics. 2001, Vol 38, Num 1, pp 26-34, issn 0022-2593Article

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangementsGIGLIO, Sabrina; BROMAN, Karl W; WEBER, Jim L et al.American journal of human genetics. 2001, Vol 68, Num 4, pp 874-883, issn 0002-9297Article

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expressionHERZING, Laura B. K; KIM, Soo-Jeong; COOK, Edwin H et al.American journal of human genetics. 2001, Vol 68, Num 6, pp 1501-1505, issn 0002-9297Article