Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 6

Results: 16

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.
Published in:
2021
By:
- Duffy, Kelly A.;
- Hathaway, Evan R.;
- Klein, Steven D.;
- Ganguly, Arupa;
- Kalish, Jennifer M.
Publication type:
Case Study
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Published in:
2021
By:
- Brown, Natasha J.;
- Zimeng Ye;
- Stutterd, Chloe;
- Jayasinghe, Sureshni I.;
- Schneider, Amy;
- Mullen, Saul;
- Mandelstam, Simone A.;
- Hildebrand, Michael S.
Publication type:
Case Study
Mosaicism and the taxonomy of human disease.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006163
By:
- Biesecker, Leslie G.
Publication type:
Article
Bockenheimer disease is associated with a TEK variant.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006119
By:
- Sudduth, Christopher L.;
- Konczyk, Dennis J.;
- Smits, Patrick J.;
- Eng, Whitney;
- Al-Ibraheemi, Alyaa;
- Upton, Joseph;
- Greene, Arin K.
Publication type:
Article
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006147
By:
- Sheppard, Sarah E.;
- Sanders, Victoria R.;
- Srinivasan, Abhay;
- Finn, Laura S.;
- Adams, Denise;
- Elton, Andrew;
- Amlie-Lefond, Catherine;
- Nelson, Zoe;
- Dmyterko, Victoria;
- Jensen, Dana;
- Zenner, Kaitlyn;
- Perkins, Jonathan;
- Bennett, James T.
Publication type:
Article
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
Published in:
2021
By:
- Ours, Christopher A.;
- Sapp, Julie C.;
- Hodges, Mia B.;
- de Moya, Allison J.;
- Biesecker, Leslie G.
Publication type:
Case Study
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006143
By:
- Muirhead, Kayla J.;
- Clause, Amanda R.;
- Schlachetzki, Zinayida;
- Dubbs, Holly;
- Perry, Denise L.;
- Hagelstrom, R. Tanner;
- Taft, Ryan J.;
- Vanderver, Adeline
Publication type:
Article
Somatic variation as an incidental finding in the pediatric next-generation sequencing era.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006135
By:
- Melas, Marilena;
- Mathew, Mariam T.;
- Mori, Mari;
- Jayaraman, Vijayakumar;
- Wilson, Sarah A.;
- Martin, Cortlandt;
- Jacobson-Kelly, Amanda E.;
- Kelly, Ben J.;
- Magrini, Vincent;
- Mardis, Elaine R.;
- Cottrell, Catherine E.
Publication type:
Article
Mosaicism in clinical genetics.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006162
By:
- Mefford, Heather C.
Publication type:
Article
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006122
By:
- Marhabaie, Mohammad;
- Hickey, Scott E.;
- Miller, Katherine;
- Grischow, Olivia;
- Schieffer, Kathleen M.;
- Franklin, Samuel J.;
- Gordon, David M.;
- Samantha Choi;
- Mosher, Theresa Mihalic;
- White, Peter;
- Koboldt, Daniel C.;
- Wilson, Richard K.
Publication type:
Article
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.
Published in:
2021
By:
- Green, Timothy E.;
- MacGregor, Duncan;
- Carden, Susan M.;
- Harris, Rebekah V.;
- Hewitt, Chelsee A.;
- Berkovic, Samuel F.;
- Penington, Anthony J.;
- Scheffer, Ingrid E.;
- Hildebrand, Michael S.
Publication type:
Case Study
Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.
Published in:
2021
By:
- Eng, Whitney;
- Sudduth, Christopher L.;
- Konczyk, Dennis J.;
- Smits, Patrick J.;
- Taghinia, Amir H.;
- Fishman, Steven J.;
- Alomari, Ahmad;
- Adams, Denise M.;
- Greene, Arin K.
Publication type:
Case Study
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Published in:
2021
By:
- Cook, Courtney B.;
- Armstrong, Linlea;
- Boerkoel, Cornelius F.;
- Clarke, Lorne A.;
- du Souich, Christèle;
- Demos, Michelle K.;
- Gibson, William T.;
- Gill, Harinder;
- Lopez, Elena;
- Patel, Millan S.;
- Selby, Kathryn;
- Abu-Sharar, Ziad;
- Elliott, Alison M.;
- Friedman, Jan M.
Publication type:
Case Study
The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.
Published in:
2021
By:
- Berland, Siren;
- Jareld, Jørgen;
- Hickson, Nicholas;
- Schlecht, Helene;
- Houge, Gunnar;
- Douzgou, Sofia
Publication type:
Case Study
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
Published in:
2021
By:
- Berland, Siren;
- Rustad, Cecilie F.;
- Bentsen, Mariann H. L.;
- Wollen, Embjørg J.;
- Turowski, Gitta;
- Johansson, Stefan;
- Houge, Gunnar;
- Haukanes, Bjørn I.
Publication type:
Case Study
Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21.
Published in:
2021
By:
- Baca, Nicole;
- Sanchez-Lara, Pedro A.;
- Schreck, Rhona;
- Eno, Celeste C.;
- Majlessipour, Fataneh
Publication type:
Case Study