Results 181 to 190 of about 167,976 (219)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Karyological Diversification of <i>Trochoidea caroni</i> (Gastropoda, Pulmonata, Geomitridae) Between Sicilian and Non-Sicilian Populations. [PDF]

Animals (Basel)
Petraccioli A, Odierna G, Crovato P, Guarino FM, Carotenuto R, Sparacio I, Maio N.   +6 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Hi-reComb: constructing recombination maps from bulk gamete Hi-C sequencing. [PDF]

Genetics
Malinsky M, Talbi M, Zhou C, Maurer N, Sacco S, Shapiro B, Peichel CL, Seehausen O, Salzburger W, Weber JN, Bolnick DI, Green RE, Durbin R.   +12 more
europepmc   +1 more source

Acquisition of ampliconic sequences marks a selfish mouse t-haplotype. [PDF]

Nat Commun
Swanepoel CM, Wang G, Zhang L, Brändl B, Bauer H, Tsaytler P, Müller FJ, Herrmann BG, Mueller JL.   +8 more
europepmc   +1 more source

A high-coverage Neandertal genome from the Altai Mountains reveals population structure among Neandertals. [PDF]

Proc Natl Acad Sci U S A
Massilani D, Peyrégne S, Iasi LNM, de Filippo C, Mafessoni F, Bossoms Mesa A, Sümer AP, Swiel Y, Popli D, Silverman S, Boyle MJ, Kozlikin MB, Shunkov MV, Derevianko AP, Higham T, Douka K, Meyer M, Zeberg H, Kelso J, Pääbo S.   +19 more
europepmc   +1 more source

Crossover interference mediates multiscale patterning along meiotic chromosomes. [PDF]

Nat Commun
White MA, Weiner B, Chu L, Lim G, Prentiss M, Kleckner N.   +5 more
europepmc   +1 more source

Recurrent Chromosome Destabilization Through Repeat-Mediated Rearrangements in a Fungal Pathogen. [PDF]

Genome Biol Evol
Fouché S, Oggenfuss U, McDonald BA, Croll D.   +3 more
europepmc   +1 more source

Joint analysis of sQTL and Hi-C reveals spatial proximity between sQTLs and target genes in cancer tissues. [PDF]

Sci Rep
Eralp B, Sefer E.
europepmc   +1 more source