Shehla Mohammed
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Explore the profile of Shehla Mohammed including associated specialties, affiliations and a list of published articles.
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56
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2316
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Recent Articles
1.
Copeland H, Low K, Wynn S, Ahmed A, Arthur V, Balasubramanian M, et al.
Genet Med Open
. 2025 Jan;
2():101864.
PMID: 39822267
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study. Methods: Individuals in the Deciphering Developmental Disorders study who had a...
2.
Rajamani G, Stafki S, Daugherty A, Mantyh W, Littel H, Bruels C, et al.
Neurol Clin Pract
. 2024 May;
14(4):e200309.
PMID: 38808024
Background And Objectives: Cockayne syndrome (CS) is an ultra-rare, autosomal recessive, premature aging disorder characterized by impaired growth, neurodevelopmental delays, neurodegeneration, polyneuropathy, and other multiorgan system complications. The anatomic aspects...
3.
Garcia-Moreno H, Langbehn D, Abiona A, Garrood I, Fleszar Z, Manes M, et al.
Brain
. 2023 Dec;
146(12):5044-5059.
PMID: 38040034
Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA, XPB, XPC, XPD, XPE, XPF, XPG and...
4.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee C, et al.
Nat Commun
. 2023 Jul;
14(1):4109.
PMID: 37433783
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the...
5.
Ebstein F, Kury S, Most V, Rosenfelt C, Scott-Boyer M, van Woerden G, et al.
Sci Transl Med
. 2023 May;
15(698):eabo3189.
PMID: 37256937
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which...
6.
Stafki S, Turner J, Littel H, Bruels C, Truong D, Knirsch U, et al.
Pediatr Neurol
. 2023 Feb;
141:79-86.
PMID: 36791574
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved...
7.
Sy M, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3492-3504.
PMID: 36135330
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made...
8.
Smedley D, Smith K, Martin A, Thomas E, McDonagh E, Cipriani V, et al.
N Engl J Med
. 2021 Nov;
385(20):1868-1880.
PMID: 34758253
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of...
9.
Weerts M, Lanko K, Guzman-Vega F, Jackson A, Ramakrishnan R, Cardona-Londono K, et al.
Genet Med
. 2021 Aug;
23(11):2122-2137.
PMID: 34345025
Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients...
10.
Devito L, Healy L, Mohammed S, Guillemot F, Dias C
Stem Cell Res
. 2021 Apr;
53:102304.
PMID: 33799280
Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line...