Search Results

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

• Authors : Pagnamenta, Alistair T. (AUTHOR); Yu, Jing (AUTHOR); Walker, Susan (AUTHOR)

Subjects: RARE diseases; NUCLEOTIDE sequencing; FAMILIES

• Source: American Journal of Human Genetics. Jun2024, Vol. 111 Issue 6, p1140-1164. 25p.

Record details

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.

• Authors : Gardner, Eugene J. (AUTHOR); Sifrim, Alejandro (AUTHOR); Lindsay, Sarah J. (AUTHOR)

Subjects: GENETIC variation; GENETIC disorders; DIAGNOSIS methods

• Source: American Journal of Human Genetics. Nov2021, Vol. 108 Issue 11, p2186-2194. 9p.

Record details

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements.

• Authors : Carvalho, Claudia M.B.; Pfundt, Rolph; King, Daniel A.

Subjects: HETEROZYGOSITY; HUMAN genetic variation; REARRANGEMENTS (Chemistry)

• Source: American Journal of Human Genetics. Apr2015, Vol. 96 Issue 4, p555-564. 10p.

Record details

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination.

• Authors : Lindsay, Sarah J.¹; Khajavi, Mehrdad²; Lupski, James R.^1,2,3

Subjects: *HUMAN genetic variation; *GENETIC mutation; *GENOMES

• Source: American Journal of Human Genetics. Nov2006, Vol. 79 Issue 5, p890-902. 13p.

Record details

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

• Authors : Al?Turki, Saeed; Manickaraj, Ashok?K.; Mercer, Catherine?L.

Subjects: NUCLEAR receptors (Biochemistry); CONGENITAL heart disease; NEONATAL mortality

• Source: American Journal of Human Genetics. Apr2014, Vol. 94 Issue 4, p574-585. 12p.

Record details

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

• Authors : Liu, Pengfei; Yuan, Bo; Carvalho, Claudia M.B.

Subjects: GENETIC disorders; HUMAN evolution; PHENOTYPES

• Source: Cell. Feb2017, Vol. 168 Issue 5, p830-842.e7. 1p.

Record details

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

• Authors : Al Turki, Saeed; Manickaraj, Ashok K.; Mercer, Catherine L.

Subjects: NUCLEAR receptors (Biochemistry); CONGENITAL heart disease; AMERICAN Journal of Human Genetics (Periodical)

• Source: American Journal of Human Genetics. Mar2016, Vol. 98 Issue 3, p592-592. 1p.

Record details

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

• Authors : Turki, Saeed Al; Manickaraj, Ashok K.; Mercer, Catherine L.

• Source: American Journal of Human Genetics. Jul2014, Vol. 95 Issue 1, p126-126. 1p.

Record details