| Property |
Value |
| Working Groups |
RG Vona |
| Subproject |
A03 |
| Open Access |
Yes |
| Publication Type |
Preprint |
| Peer Reviewed |
No |
| PMID |
40666329 |
| DOI |
10.1101/2025.06.26.25330137 |
| Publication Year |
2025 |
| Title |
Domain specific phenotypic expansion associated with variants in MACF1 |
| Journal |
medRxiv |
| ISSN |
no ISSN (NLM ID:101767986) |
| URL |
https://doi.org/10.1101/2025.06.26.25330137 |
| Journal Abbreviation |
medRxiv |
| Authors |
Gogate N, Jolly A, Rosenfeld JA, Bahena-Carbajal P, Bernstein JA, Bonner D, Busa T, Cristian I, D’Souza P, Friedman J, Gorokhova S, Haaf T, Herman I, Isin UU, Jhangiani SN, Johnson I, Lenberg J, Macnamara EF, Maroofian R, Network UD, Racobaldo M, Redlich OL, Tifft C, Tos T, Vona B, Zambrano RM, Wentzensen IM, Wigby K, Pehlivan D, Gibbs RA, Lupski JR, Posey JE |
| First Author |
Gogate N |
| Last Author |
Posey JE |
External Resources
medrxiv....ll.pdfhttps://www.medrxiv.org/content/10.1101/2025.06.26.25330137v1.full.pdf Article fulltext
gro-2/150462http://resolver.sub.uni-goettingen.de/purl?gro-2%2F150462= GRO.publications identifier
NM_001394062.1https://www.ncbi.nlm.nih.gov/gene/NM_001394062.1 NCBI gene (NM_001394062.1)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
4869https://www.omim.org/entry/4869 OMIM identifier (4869)
8384https://www.omim.org/entry/8384 OMIM identifier (8384)
618325https://www.omim.org/entry/618325 OMIM identifier (618325)
0000-0003-2050-5084https://orcid.org/0000-0003-2050-5084 ORCID identifier (Nikhita Gogate)
0000-0002-5663-1157https://orcid.org/0000-0002-5663-1157 ORCID identifier (Angad Jolly)
0000-0001-5664-7987https://orcid.org/0000-0001-5664-7987 ORCID identifier (Jill A. Rosenfeld)
0000-0002-8771-0886https://orcid.org/0000-0002-8771-0886 ORCID identifier (Devon Bonner)
0000-0003-4454-1979https://orcid.org/0000-0003-4454-1979 ORCID identifier (Tiffany Busa)
0000-0002-8468-5822https://orcid.org/0000-0002-8468-5822 ORCID identifier (Precilla D’Souza)
0000-0002-3188-3788https://orcid.org/0000-0002-3188-3788 ORCID identifier (Jennifer Friedman)
0000-0001-6870-4061https://orcid.org/0000-0001-6870-4061 ORCID identifier (Svetlana Gorokhova)
0000-0002-0737-0763https://orcid.org/0000-0002-0737-0763 ORCID identifier (Thomas Haaf)
0000-0002-7359-6832https://orcid.org/0000-0002-7359-6832 ORCID identifier (Isabella Herman)
0000-0003-1684-1624https://orcid.org/0000-0003-1684-1624 ORCID identifier (Ugur Ufuk Isin)
0000-0002-6674-0074https://orcid.org/0000-0002-6674-0074 ORCID identifier (Shalini N. Jhangiani)
0000-0002-9418-3287https://orcid.org/0000-0002-9418-3287 ORCID identifier (Ellen F. Macnamara)
0000-0001-6763-1542https://orcid.org/0000-0001-6763-1542 ORCID identifier (Reza Maroofian)
0000-0002-3931-1207https://orcid.org/0000-0002-3931-1207 ORCID identifier (Cynthia Tifft)
0009-0006-4314-4639https://orcid.org/0009-0006-4314-4639 ORCID identifier (Tülay Tos)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Vona)
0009-0009-2579-6424https://orcid.org/0009-0009-2579-6424 ORCID identifier (Regina M. Zambrano)
0000-0001-6994-1640https://orcid.org/0000-0001-6994-1640 ORCID identifier (Ingrid M. Wentzensen)
0000-0001-8952-3534https://orcid.org/0000-0001-8952-3534 ORCID identifier (Kristen Wigby)
0000-0001-5788-0270https://orcid.org/0000-0001-5788-0270 ORCID identifier (Davut Pehlivan)
0000-0002-1356-5698https://orcid.org/0000-0002-1356-5698 ORCID identifier (Richard A. Gibbs)
0000-0001-9907-9246https://orcid.org/0000-0001-9907-9246 ORCID identifier (James R. Lupski)
0000-0003-4814-6765https://orcid.org/0000-0003-4814-6765 ORCID identifier (Jennifer E. Posey)
035xkbk20https://ror.org/035xkbk20 ROR identifier (035xkbk20, Aix-Marseille University)
0086ms749https://ror.org/0086ms749 ROR identifier (0086ms749, Arnold Palmer Hospital for Children)
02pttbw34https://ror.org/02pttbw34 ROR identifier (02pttbw34, Baylor College of Medicine)
01q9r1072https://ror.org/01q9r1072 ROR identifier (01q9r1072, Boys Town National Research Hospital)
02etexs15https://ror.org/02etexs15 ROR identifier (02etexs15, Children's Hospital of New Orleans)
02f99v835https://ror.org/02f99v835 ROR identifier (02f99v835, German Primate Center)
05jrr4320https://ror.org/05jrr4320 ROR identifier (05jrr4320, Hôpital de la Timone)
05ect4e57https://ror.org/05ect4e57 ROR identifier (05ect4e57, Louisiana State University)
00baak391https://ror.org/00baak391 ROR identifier (00baak391, National Human Genome Research Institute)
00414dg76https://ror.org/00414dg76 ROR identifier (00414dg76, Rady Children's Hospital-San Diego)
03k7bde87https://ror.org/03k7bde87 ROR identifier (03k7bde87, Sağlık Bilimleri Üniversitesi)
00f54p054https://ror.org/00f54p054 ROR identifier (00f54p054, Stanford University)
05cz92x43https://ror.org/05cz92x43 ROR identifier (05cz92x43, Texas Children's Hospital)
04dm1cm79https://ror.org/04dm1cm79 ROR identifier (04dm1cm79, Universitätsmedizin Rostock)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)
0168r3w48https://ror.org/0168r3w48 ROR identifier (0168r3w48, University of California, San Diego)
00thqtb16https://ror.org/00thqtb16 ROR identifier (00thqtb16, University of Nebraska Medical Center)
032db5x82https://ror.org/032db5x82 ROR identifier (032db5x82, University of South Florida)
00fbnyb24https://ror.org/00fbnyb24 ROR identifier (00fbnyb24, University of Würzburg)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2025/06/28/2025.06.26.25330137/DC1/embed/media-1.pdf?download=true Supplemental material
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2025/06/28/2025.06.26.25330137/DC2/embed/media-2.pdf?download=true Supplemental material (figure)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2025/06/28/2025.06.26.25330137/DC3/embed/media-3.pdf?download=true Supplemental material (figure)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2025/06/28/2025.06.26.25330137/DC4/embed/media-4.pdf?download=true Supplemental material (figure)
goeseek.gwdguser.de/studies/253https://goeseek.gwdguser.de/studies/253 Supplemental material (goeseek study)
medrxiv....d=truehttps://www.medrxiv.org/content/medrxiv/early/2025/06/28/2025.06.26.25330137/DC5/embed/media-5.xlsx?download=true Supplemental material (table)