Search Results

The gene dose makes the disease.

• Authors : Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, University Park, PA 16802, USA.

Subjects: DNA Copy Number Variations* ; Genomics*; Gene Dosage

• Source: Cell [Cell] 2022 Aug 04; Vol. 185 (16), pp. 2850-2852.Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print Cited Medium: Internet ISSN: 1097-4172

Record details

Agricola

Record details

Agricola

Record details

Agricola

Record details

An interaction-based model for neuropsychiatric features of copy-number variants.

• Authors : Jensen, Matthew; Girirajan, Santhosh

Subjects: NEUROPSYCHIATRY; DNA copy number variations; MICROBIAL virulence

• Source: PLoS Genetics; 1/17/2019, Vol. 15 Issue 1, p1-14, 14p

Record details

A burst of segmental duplications in the genome of the African great ape ancestor.

• Authors : Marques-Bonet, Tomas; Kidd, Jeffrey M.; Ventura, Mario

Subjects: GENOMICS; APES; PHENOTYPES

• Source: Nature. 2/12/2009, Vol. 457 Issue 7231, p877-881. 5p. 1 Chart, 4 Graphs.

Record details

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

• Authors : Priest, James R.; Osoegawa, Kazutoyo; Mohammed, Nebil

Subjects: CONGENITAL heart disease; ATRIOVENTRICULAR node; ATRIAL septal defects

• Source: PLoS Genetics; 4/8/2016, Vol. 12 Issue 4, p1-25, 25p

Record details

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants.

• Authors : Girirajan, Santhosh; Rosenfeld, Jill A.; Coe, Bradley P.

Subjects: GENETIC research; GENOMICS; HUMAN chromosome abnormality diagnosis

• Source: New England Journal of Medicine. 10/4/2012, Vol. 367 Issue 14, p1321-1331. 11p. 3 Diagrams.

Record details

Corrigendum: A copy number variation morbidity map of developmental delay.

• Authors : Cooper, Gregory M; Coe, Bradley P; Girirajan, Santhosh

Subjects: DNA copy number variations; GENOMICS

• Source: Nature Genetics; Sep2014, Vol. 46 Issue 9, p1040-1040, 1p

Record details

Strategies for dissecting the complexity of neurodevelopmental disorders.

• Authors : Sun, Jiawan¹ (AUTHOR); Noss, Serena¹ (AUTHOR); Banerjee, Deepro² (AUTHOR)

Subjects: *INDUCED pluripotent stem cells; *GENETIC variation; *NUCLEOTIDE sequencing

• Source: Trends in Genetics. Feb2024, Vol. 40 Issue 2, p187-202. 16p.

Record details