Search details
1.
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Nature
; 602(7898): 623-631, 2022 02.
Article
in English
| MEDLINE | ID: mdl-35140396
2.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev
; 34(21-22): 1520-1533, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-33060134
3.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Article
in English
| MEDLINE | ID: mdl-37813462
4.
Potential implications of the glycosylation patterns in collagen α1(I) and α2(I) chains for fibril assembly and growth.
J Struct Biol
; 215(1): 107938, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36641113
5.
50 Years of the steric-blocking mechanism in vertebrate skeletal muscle: a retrospective.
J Muscle Res Cell Motil
; 44(3): 133-141, 2023 09.
Article
in English
| MEDLINE | ID: mdl-35789471
6.
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
PLoS Biol
; 18(12): e3001030, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33320856
7.
Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Nature
; 605(7910): E7, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35504971
8.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Article
in English
| MEDLINE | ID: mdl-30773277
9.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38701747
10.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Article
in English
| MEDLINE | ID: mdl-35693420
11.
Keratin intermediate filament chains in the European common wall lizard (Podarcis muralis) and a potential keratin filament crosslinker.
J Struct Biol
; 213(4): 107793, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34481988
12.
Keratin intermediate filament chains in tuatara (Sphenodon punctatus): A comparison of tuatara and human sequences.
J Struct Biol
; 213(1): 107706, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33577903
13.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30503519
14.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290151
15.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30057030
16.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33033404
17.
Structure and topology of the linkers in the conserved lepidosaur ß-keratin chain with four 34-residue repeats support an interfilament role for the central linker.
J Struct Biol
; 212(1): 107599, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32800921
18.
Lepidosaur ß-keratin chains with four 34-residue repeats: Modelling reveals a potential filament-crosslinking role.
J Struct Biol
; 209(1): 107413, 2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31698074
19.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
20.
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Hum Mutat
; 40(8): 1063-1070, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31045292