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2545-1-0

Funded outputs count: 17
Funder award ID: 2545-1-0
OpenAlex ID: G1802016
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature
2024 · Aboulfazl Rad, Oliver Bartsch, et al. · Clinical Genetics · 6
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
2023 · Sheng-Jia Lin, Barbara Vona, et al. · Genome Medicine · 12
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
2023 · Alistair T. Pagnamenta, Carme Camps, et al. · Genome Medicine · 95
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2023 · Rauan Kaiyrzhanov, Aboulfazl Rad, et al. · Brain · 23
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Unraveling haplotype errors in the DFNA33 locus
2023 · Barbara Vona, Sabrina Regele, et al. · Frontiers in Genetics · 2
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
2022 · Marieke M van der Knoop, Reza Maroofian, et al. · Brain · 37
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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
2022 · Aboulfazl Rad, Maryam Najafi, et al. · Orphanet Journal of Rare Diseases · 9
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
2021 · Elodie M. Richard, Somayeh Bakhtiari, et al. · The American Journal of Human Genetics · 34
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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
2021 · Rauan Kaiyrzhanov, Maha S. Zaki, et al. · Movement Disorders Clinical Practice · 11
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
2021 · Maria Iqbal, Reza Maroofian, et al. · Genetics in Medicine · 25
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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
2021 · Alban Ziegler, Rémi Duclaux-Loras, et al. · The American Journal of Human Genetics · 31
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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 · Barbara Vona, Neda Mazaheri, et al. · Human Genetics · 32
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Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway
2020 · Barbara Peixoto Pinheiro, Barbara Vona, et al. · Pflügers Archiv - European Journal of Physiology · 63
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
2020 · Yuh-Charn Lin, Marcello Niceta, et al. · The American Journal of Human Genetics · 69
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Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
2020 · Aboulfazl Rad, Thore Schade‐Mann, et al. · Human Mutation · 21
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Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
2020 · Barbara Vona, Julia Doll, et al. · Hearing Research · 32
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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
2020 · Julia Doll, Susanne Kolb, et al. · International Journal of Molecular Sciences · 14
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