FXS FMR1

Jessica Ezzell,Hunter, Elizabeth,Berry-Kravis, Heather,Hipp, Peter K.,Todd

Epidemiology of fragile X syndrome: a systematic review and meta-analysis.

Jessica,Hunter, Oliver,Rivero-Arias, Angel,Angelov, Edward,Kim, Iain,Fotheringham, Jose,Leal

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

Population-based FMR1 carrier screening among reproductive women.

Quratul,Ain, Ye Hyun,Hwang, Daryl,Yeung, Pacharee,Panpaprai, Wiwat,Iamurairat, Wiboon,Chutimongkonkul, Objoon,Trachoo, Flora,Tassone, Poonnada,Jiraanont

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

Flora,Tassone, John,Adams, Elizabeth M,Berry-Kravis, Susannah S,Cohen, Alfredo,Brusco, Maureen A,Leehey, Lexin,Li, Randi J,Hagerman, Paul J,Hagerman

Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.

Deborah A,Hall, Sukriti,Nag, Bichun,Ouyang, David A,Bennett, Yuanqing,Liu, Aisha,Ali, Lili,Zhou, Elizabeth,Berry-Kravis

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Simon,Ardui, Valerie,Race, Thomy,de Ravel, Hilde,Van Esch, Koenraad,Devriendt, Gert,Matthijs, Joris R,Vermeesch

Diseases of unstable repeat expansion: mechanisms and common principles.

Jennifer R,Gatchel, Huda Y,Zoghbi

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Molecular studies of the fragile X syndrome.

S J,Knight, M C,Hirst, A,Roche, Z,Christodoulou, S M,Huson, R,Winter, M,Fitchett, M J,McKinley, R H,Lindenbaum, Y,Nakahori

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

A J,Verkerk, M,Pieretti, J S,Sutcliffe, Y H,Fu, D P,Kuhl, A,Pizzuti, O,Reiner, S,Richards, M F,Victoria, F P,Zhang

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.

Jessica,Klusek, Lauren,Jenner, Abigail L,Hogan, Laura,Friedman, Elizabeth,Berry-Kravis, Flora,Tassone, Tatyana,Adayev, Amanda J,Fairchild, Jane E,Roberts

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.

Sarah,Fazal, Harriet,Dashnow, Maike F,Dohrn, Jacquelyn,Raposo, Laurel,Hiatt, Matt C,Danzi, Isaac R L,Xu, Camilo,Toro, David R,Adams, Karen,Usdin, Bruce,Hayward, Shilpa Nadimpalli,Kobren, Shamil R,Sunyaev, Rebecca C,Spillmann, Vandana,Shashi, Adriana,Rebelo, Guney,Bademci, Mustafa,Tekin, Aaron R,Quinlan, Stephan,Züchner

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia.

Jessalyn,Grant-Bier, Kathryn,Ruppert, Bruce,Hayward, Karen,Usdin, Daman,Kumari

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome.

Grace,Farmiloe, Veronika,Bejczy, Elisabetta,Tabolacci, Rob,Willemsen, Frank,Jacobs

Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of

Adriana,Vilkaite, Xuan Phuoc,Nguyen, Cansu Türkan,Güzel, Lucas,Gottschlich, Ulrike,Bender, Jens E,Dietrich, Katrin,Hinderhofer, Thomas,Strowitzki, Julia,Rehnitz

In Utero Alcohol and Unsuitable Home Environmental Exposure Combined with

Tri Indah,Winarni, Ramkumar,Aishworiya, Hannah,Culpepper, Marwa,Zafarullah, Guadalupe,Mendoza, Tanaporn Jasmine,Wilaisakditipakorn, Narueporn,Likhitweerawong, Julie,Law, Randi,Hagerman, Flora,Tassone

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Eddy N,de Boer, Arjen J,Scheper, Dennis,Hendriksen, Bart,Charbon, Gerben,van der Vries, Annelies M,Ten Berge, Petra M,Grootscholten, Henny H,Lemmink, Jan D H,Jongbloed, Laura,Bosscher, Nine V A M,Knoers, Morris A,Swertz, Birgit,Sikkema-Raddatz, Dorieke J,Dijkstra, Lennart F,Johansson, Cleo C,van Diemen

ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulation.

Jana,Key, Luis-Enrique,Almaguer-Mederos, Arvind Reddy,Kandi, Nesli-Ece,Sen, Suzana,Gispert, Gabriele,Köpf, David,Meierhofer, Georg,Auburger

Mosaic H3K9me3 at BREACHes predicts synaptic gene expression associated with fragile X syndrome cognitive severity.

Kenneth,Pham, Thomas,Malachowski, Linda,Zhou, Ji Hun,Kim, Chuanbin,Su, Jennifer E,Phillips-Cremins