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

Results: 16

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

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

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 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

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

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

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

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

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

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