Daniela Buhas
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Explore the profile of Daniela Buhas including associated specialties, affiliations and a list of published articles.
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33
Citations
451
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Recent Articles
1.
Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, et al.
Eur J Hum Genet
. 2025 Mar;
PMID: 40044822
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a...
2.
Pekeles H, Berrahmoune S, Dassi C, Cheung A, Gagnon T, Waters P, et al.
EClinicalMedicine
. 2024 Aug;
74:102740.
PMID: 39091670
Background: DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in , the gene encoding POLG. Patients may experience a range of...
3.
Iverson R, Taljaard M, Geraghty M, Pugliese M, Tingley K, Coyle D, et al.
BMC Pediatr
. 2024 Jan;
24(1):37.
PMID: 38216926
Background: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase...
4.
Sahly A, Srour M, Buhas D, Scheffer I, Myers K
Eur J Paediatr Neurol
. 2023 Apr;
44:46-50.
PMID: 37075569
Background: Wiedemann-Steiner Syndrome (WSTS) is a rare chromatinopathy caused by pathogenic variants in KMT2A. WSTS is characterized by neurodevelopmental disorders and distinct dysmorphic features. Epilepsy has been reported in only...
5.
Carter M, Srour M, Au P, Buhas D, Dyack S, Eaton A, et al.
J Med Genet
. 2023 Feb;
60(6):523-532.
PMID: 36822643
Purpose And Scope: The aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically,...
6.
Whittle E, Chilian M, Karimiani E, Progri H, Buhas D, Kose M, et al.
Genet Med
. 2022 Dec;
25(2):100332.
PMID: 36520152
Purpose: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities. Methods: We performed a...
7.
Alsubhi S, Osterman B, Chrestian N, Dubeau F, Buhas D, Srour M
Front Neurol
. 2022 Nov;
13:913652.
PMID: 36324377
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one...
8.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta A, Marafi D, et al.
Genet Med
. 2022 Nov;
25(1):90-102.
PMID: 36318270
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this...
9.
Sahly A, Buhas D, Myers K
Am J Med Genet A
. 2022 Aug;
188(10):3135-3138.
PMID: 35920329
No abstract available.
10.
Duncan C, Skouboe M, Howarth S, Hollensen A, Chen R, Borresen M, et al.
J Exp Med
. 2022 Apr;
219(6).
PMID: 35442417
Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland,...