Search details
1.
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment.
Clin Genet
; 2024 Mar 05.
Article
in English
| MEDLINE | ID: mdl-38440907
2.
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Hum Mol Genet
; 30(3-4): 226-233, 2021 04 26.
Article
in English
| MEDLINE | ID: mdl-33517393
3.
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
Am J Med Genet A
; 188(5): 1482-1487, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35112464
4.
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene.
Pancreatology
; 22(5): 564-571, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35589511
5.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29429571
6.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Mol Vis
; 27: 457-465, 2021.
Article
in English
| MEDLINE | ID: mdl-34321860
7.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Hum Mol Genet
; 27(21): 3669-3674, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30124836
8.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29267967
9.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32753734
10.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Am J Hum Genet
; 99(1): 188-94, 2016 Jul 07.
Article
in English
| MEDLINE | ID: mdl-27292112
11.
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Clin Genet
; 96(3): 274-275, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31292943
12.
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.
Clin Genet
; 96(4): 371-375, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31343737
13.
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Clin Genet
; 95(3): 415-419, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30548255
14.
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Metab Brain Dis
; 34(2): 641-649, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30570710
15.
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
J Hum Genet
; 63(4): 473-485, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29410512
16.
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Clin Genet
; 94(6): 581-585, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30238967
17.
Inhibition of protein disulfide isomerase induces differentiation of acute myeloid leukemia cells.
Haematologica
; 103(11): 1843-1852, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30002127
18.
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Am J Med Genet A
; 176(11): 2382-2388, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30329210
19.
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
BMC Med Genet
; 18(1): 142, 2017 12 02.
Article
in English
| MEDLINE | ID: mdl-29197352
20.
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Am J Med Genet A
; 173(11): 3093-3097, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28944608