| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
38031187 |
| DOI |
10.1186/s13073-023-01258-4 |
| Publication Year |
2023 |
| Title |
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity |
| Journal |
Genome Medicine |
| ISSN |
1756-994X |
| eISSN |
1756-994X |
| URL |
http://dx.doi.org/10.1186/s13073-023-01258-4 |
| Issue |
1 |
| Volume |
15 |
| Journal Abbreviation |
Genome Med |
| Authors |
Lin S, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK |
| First Author |
Lin S |
| Last Author |
Varshney GK |
External Resources
211909https://www.addgene.org/211909 Addgene identifier (211909)
211910https://www.addgene.org/211910 Addgene identifier (211910)
212010https://www.addgene.org/212010 Addgene identifier (212010, reused)
genomeme...-4.pdfhttps://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-023-01258-4.pdf Article fulltext
0000839738https://databases.lovd.nl/shared/variants/0000839738 LOVD identifier (0000839738)
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0000839740https://databases.lovd.nl/shared/variants/0000839740 LOVD identifier (0000839740)
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0000839745https://databases.lovd.nl/shared/variants/0000839745 LOVD identifier (0000839745)
0000839746https://databases.lovd.nl/shared/variants/0000839746 LOVD identifier (0000839746)
0000839747https://databases.lovd.nl/shared/variants/0000839747 LOVD identifier (0000839747)
0000839748https://databases.lovd.nl/shared/variants/0000839748 LOVD identifier (0000839748)
0000839749https://databases.lovd.nl/shared/variants/0000839749 LOVD identifier (0000839749)
0000936556https://databases.lovd.nl/shared/variants/0000936556 LOVD identifier (0000936556)
0000936559https://databases.lovd.nl/shared/variants/0000936559 LOVD identifier (0000936559)
0000936561https://databases.lovd.nl/shared/variants/0000936561 LOVD identifier (0000936561)
0000936563https://databases.lovd.nl/shared/variants/0000936563 LOVD identifier (0000936563)
0000936565https://databases.lovd.nl/shared/variants/0000936565 LOVD identifier (0000936565)
0000936567https://databases.lovd.nl/shared/variants/0000936567 LOVD identifier (0000936567)
0000936569https://databases.lovd.nl/shared/variants/0000936569 LOVD identifier (0000936569)
0000936572https://databases.lovd.nl/shared/variants/0000936572 LOVD identifier (0000936572)
0000936574https://databases.lovd.nl/shared/variants/0000936574 LOVD identifier (0000936574)
0000936576https://databases.lovd.nl/shared/variants/0000936576 LOVD identifier (0000936576)
0000936578https://databases.lovd.nl/shared/variants/0000936578 LOVD identifier (0000936578)
0000936585https://databases.lovd.nl/shared/variants/0000936585 LOVD identifier (0000936585)
0000936587https://databases.lovd.nl/shared/variants/0000936587 LOVD identifier (0000936587)
NM_002541https://www.ncbi.nlm.nih.gov/nuccore/NM_002541 NCBI nucleotide (NM_002541, reused)
NM_018245https://www.ncbi.nlm.nih.gov/nuccore/NM_018245 NCBI nucleotide (NM_018245, reused)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
7955https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=7955 NCBI taxonomy (zebrafish, Danio rerio)
0000-0002-7559-6529https://orcid.org/0000-0002-7559-6529 ORCID identifier (Sheng-Jia Lin)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
0000-0003-0514-1729https://orcid.org/0000-0003-0514-1729 ORCID identifier (Tracy Lau)
0000-0001-7840-0002https://orcid.org/0000-0001-7840-0002 ORCID identifier (Maha S. Zaki)
0000-0003-3233-5529https://orcid.org/0000-0003-3233-5529 ORCID identifier (Clarissa Rocca)
0000-0003-2289-8950https://orcid.org/0000-0003-2289-8950 ORCID identifier (Mahmoud M. Noureldeen)
0000-0002-9379-2400https://orcid.org/0000-0002-9379-2400 ORCID identifier (Cassidy Petree)
0000-0002-5406-0776https://orcid.org/0000-0002-5406-0776 ORCID identifier (Tobias Bartolomaeus)
0000-0002-1542-1399https://orcid.org/0000-0002-1542-1399 ORCID identifier (Rami Abou Jamra)
0000-0001-5567-8300https://orcid.org/0000-0001-5567-8300 ORCID identifier (Giovanni Zifarelli)
0000-0002-2619-7775https://orcid.org/0000-0002-2619-7775 ORCID identifier (Pratishtha Varshney)
0000-0003-0533-5320https://orcid.org/0000-0003-0533-5320 ORCID identifier (Mohammad Hasan Mohammadi)
0000-0002-0569-1117https://orcid.org/0000-0002-0569-1117 ORCID identifier (Mehran Beiraghi Toosi)
0000-0002-6126-6078https://orcid.org/0000-0002-6126-6078 ORCID identifier (Cordula Knopp)
0000-0002-5642-8378https://orcid.org/0000-0002-5642-8378 ORCID identifier (Ingo Kurth)
0000-0002-2906-0635https://orcid.org/0000-0002-2906-0635 ORCID identifier (Thomas D. Challman)
0000-0002-0737-0763https://orcid.org/0000-0002-0737-0763 ORCID identifier (Thomas Haaf)
0000-0002-2732-4043https://orcid.org/0000-0002-2732-4043 ORCID identifier (Andrés Moreno De Luca)
0000-0002-2866-7777https://orcid.org/0000-0002-2866-7777 ORCID identifier (Henry Houlden)
0000-0002-0429-1904https://orcid.org/0000-0002-0429-1904 ORCID identifier (Gaurav K. Varshney)
7WGRhttps://www.rcsb.org/structure/7WGR RCSB PDB Identifier (DOI:10.2210/pdb7WGR/pdb, reused)
1/835https://mbexc.uni-goettingen.de/archive/1/835 Research Data Archive (supplemental material)
05pn4yv70https://ror.org/05pn4yv70 ROR identifier (05pn4yv70, Beni-Suef University)
03ccx3r49https://ror.org/03ccx3r49 ROR identifier (03ccx3r49, Centogene (Germany))
03czfpz43https://ror.org/03czfpz43 ROR identifier (03czfpz43, Emory University)
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03vek6s52https://ror.org/03vek6s52 ROR identifier (03vek6s52, Harvard University)
04a9tmd77https://ror.org/04a9tmd77 ROR identifier (04a9tmd77, Icahn School of Medicine at Mount Sinai)
04sfka033https://ror.org/04sfka033 ROR identifier (04sfka033, Mashhad University of Medical Sciences)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
02n85j827https://ror.org/02n85j827 ROR identifier (02n85j827, National Research Centre)
035z6xf33https://ror.org/035z6xf33 ROR identifier (035z6xf33, Oklahoma Medical Research Foundation)
02y72wh86https://ror.org/02y72wh86 ROR identifier (02y72wh86, Queen's University)
04xfq0f34https://ror.org/04xfq0f34 ROR identifier (04xfq0f34, RWTH Aachen University)
044g6d731https://ror.org/044g6d731 ROR identifier (044g6d731, Savitribai Phule Pune University)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
028hv5492https://ror.org/028hv5492 ROR identifier (028hv5492, University Hospital Leipzig)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
04cw6st05https://ror.org/04cw6st05 ROR identifier (04cw6st05, University of London)
01ee9ar58https://ror.org/01ee9ar58 ROR identifier (01ee9ar58, University of Nottingham)
03a1kwz48https://ror.org/03a1kwz48 ROR identifier (03a1kwz48, University of Tübingen)
00fbnyb24https://ror.org/00fbnyb24 ROR identifier (00fbnyb24, University of Würzburg)
037tr0b92https://ror.org/037tr0b92 ROR identifier (037tr0b92, Zabol University of Medical Sciences)
SCR_023662https://scicrunch.org/resolver/SCR_023662 SciCrunch identifier (RRID:SCR_023662, AlphaFold Protein Structure Database)
SCR_000441https://scicrunch.org/resolver/SCR_000441 SciCrunch identifier (RRID:SCR_000441, EthoVision XT)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_016137https://scicrunch.org/resolver/SCR_016137 SciCrunch identifier (RRID:SCR_016137, Microsoft Excel)
SCR_018063https://scicrunch.org/resolver/SCR_018063 SciCrunch identifier (RRID:SCR_018063, Zeiss LSM 710 Confocal Inverted Microscope)
media.sp...SM.pdfhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM2_ESM.pdf Supplemental material
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM1_ESM.xlsx Supplemental material (table)
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM3_ESM.xlsx Supplemental material (table)
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM4_ESM.xlsx Supplemental material (table)
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM5_ESM.xlsx Supplemental material (table)
media.sp...M.xlsxhttps://media.springernature.com/original/springer-static/esm/art%3A10.1186%2Fs13073-023-01258-4/MediaObjects/13073_2023_1258_MOESM6_ESM.xlsx Supplemental material (table)
Q9ULD0https://www.uniprot.org/uniprot/Q9ULD0 UniProt identifier (Q9ULD0, reused)
mbexc.de...neity/https://mbexc.de/evaluating-the-association-of-biallelic-ogdhl-variants-with-significant-phenotypic-heterogeneity/ Website entry (mbexc.de)
goeseek.gwdguser.de/studies/347https://goeseek.gwdguser.de/studies/347 Supplemental material (goeseek study)