FRA12A DIP2B

A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently.

D,Kumar, J W,Clark, C E,Blank, M A,Patton

Heritable fragility at 11q13 and 12q13.

D F,Smeets, J M,Scheres, T W,Hustinx

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Birgitta,Winnepenninckx, Kim,Debacker, Jacqueline,Ramsay, Dominique,Smeets, Arie,Smits, David R,FitzPatrick, R Frank,Kooy

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Warren A,Cheung, Adam F,Johnson, William J,Rowell, Emily,Farrow, Richard,Hall, Ana SA,Cohen, John C,Means, Tricia,Zion, Daniel M,Portik, Christopher T,Saunders, Boryana,Koseva, Chengpeng,Bi, Tina,Truong, Carl,Schwendinger-Schreck, Byunggil,Yoo, Jeffrey J,Johnston, Margaret,Gibson, Gilad,Evrony, William B,Rizzo, Isabelle,Thiffault, Scott T,Younger, Tom,Curran, Aaron M,Wenger, Elin,Grundberg, Tomi,Pastinen

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Emilie T,Théberge, Kate,Durbano, Diane,Demailly, Sophie,Huby, Aleksandra,Mitina, Yue,Yin, Arezoo,Mohajeri, Clara,van Karnebeek, Gabriella A,Horvath, Ryan K C,Yuen, Karen,Usdin, Anna,Lehman, Laura,Cif, Phillip A,Richmond

Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy.

Aleksandra,Mitina, Mahreen,Khan, Robert,Lesurf, Yue,Yin, Worrawat,Engchuan, Omar,Hamdan, Giovanna,Pellecchia, Brett,Trost, Ian,Backstrom, Keyi,Guo, Linda M,Pallotto, Phoenix Hoi,Lam Doong, Zhuozhi,Wang, Thomas,Nalpathamkalam, Bhooma,Thiruvahindrapuram, Tanya,Papaz, Christopher E,Pearson, Jiannis,Ragoussis, Padmaja,Subbarao, Meghan B,Azad, Stuart E,Turvey, Piushkumar,Mandhane, Theo J,Moraes, Elinor,Simons, Stephen W,Scherer, Jane,Lougheed, Tapas,Mondal, John,Smythe, Luis,Altamirano-Diaz, Erwin,Oechslin, Seema,Mital, Ryan K C,Yuen

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.

Warren A,Cheung, Adam F,Johnson, William J,Rowell, Emily,Farrow, Richard,Hall, Ana S A,Cohen, John C,Means, Tricia N,Zion, Daniel M,Portik, Christopher T,Saunders, Boryana,Koseva, Chengpeng,Bi, Tina K,Truong, Carl,Schwendinger-Schreck, Byunggil,Yoo, Jeffrey J,Johnston, Margaret,Gibson, Gilad,Evrony, William B,Rizzo, Isabelle,Thiffault, Scott T,Younger, Tom,Curran, Aaron M,Wenger, Elin,Grundberg, Tomi,Pastinen

Transcriptome and Genome Analysis Uncovers a

Chiara,Folland, Vijay,Ganesh, Ben,Weisburd, Catriona,McLean, Andrew J,Kornberg, Anne,O'Donnell-Luria, Heidi L,Rehm, Igor,Stevanovski, Sanjog R,Chintalaphani, Paul,Kennedy, Ira W,Deveson, Gianina,Ravenscroft

Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.

Farah,Qaiser, Tara,Sadoway, Yue,Yin, Quratulain,Zulfiqar Ali, Charlotte M,Nguyen, Natalie,Shum, Ian,Backstrom, Paula T,Marques, Sepideh,Tabarestani, Renato P,Munhoz, Timo,Krings, Christopher E,Pearson, Ryan K C,Yuen, Danielle M,Andrade