Publications by authors named "Fatima Abidi"

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Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
Po-Nien Lu, Chandler Melton, Barbara Dupont, Julie R Jones, Fatima Abidi

Clin Genet· September 2025

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Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Nikhil Sahajpal, Catherine Ziats, Alka Chaubey, Barbara R DuPont, Fatima Abidi

Clin Genet· February 2024

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi

Am J Hum Genet· February 2023

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Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang

Mol Genet Genomic Med· May 2022

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Angelman syndrome with a 15q11q13 deletion in a mother and daughter.
Shannon Bell, Kameryn M Butler, Kathryn T Drazba, Jennifer Lynch, Fatima E Abidi

Clin Dysmorphol· April 2022

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Antimicrobial Sensitivity Pattern of Salmonella Typhi: Emergence of Resistant Strains.
Syed Asim Ali Shah, Muhammad Nadeem, Sarwar Ali Syed, Syeda Turab Fatima Abidi, Nasir Khan

Cureus· November 2020

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Redefining the Etiologic Landscape of Cerebellar Malformations.
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, Ghayda M Mirzaa, James T Bennett, Fatima Abidi

Am J Hum Genet· September 2019

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Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.
Jess F Peterson, David P Bick, Gabrielle C Geddes, Julie McCarrier, John W Grignon, Fatima Abidi

Am J Med Genet A· December 2016

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Fatima Abidi

BMJ Open· April 2016

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Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.
Claire C Homan, Raman Kumar, Lam Son Nguyen, Eric Haan, F Lucy Raymond, Fatima Abidi

Am J Hum Genet· March 2014

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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Daria Grafodatskaya, Barian H Y Chung, Darci T Butcher, Andrei L Turinsky, Sarah J Goodman, Fatima E Abidi

BMC Med Genomics· January 2013

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Evaluation of different sources of DNA for use in genome wide studies and forensic application.
Habiba S Al Safar, Fatima H Abidi, Kamal A Khazanehdari, Ian R Dadour, Guan K Tay

Appl Microbiol Biotechnol· February 2011

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Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Annabel C Whibley, Vincent Plagnol, Patrick S Tarpey, Fatima Abidi, Tod Fullston

Am J Hum Genet· August 2010

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, Sarah L Ramsden, Sinitdhorn Rujirabanjerd

Nat Genet· June 2010

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Anna Hackett, Patrick S Tarpey, Andrea Licata, James Cox, Annabel Whibley, Fatima E Abidi

Eur J Hum Genet· May 2010

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Fatima E Abidi

Nat Genet· May 2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Fatima Abidi

Am J Hum Genet· February 2008

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X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.
Lilei Zhang, Chunfa Jie, Cassandra Obie, Fatima Abidi, Charles E Schwartz

Genome Res· May 2007

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
Shelli R Kesler, Richard J Simensen, Kytja Voeller, Fatima Abidi, Roger E Stevenson

Neurogenetics· April 2007

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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Olivier Hagens, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven

Hum Genet· January 2006

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
Juliane Ramser, Fatima E Abidi, Celine A Burckle, Claus Lenski, Helga Toriello

Hum Mol Genet· April 2005

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