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Works matching AU Shao, Diane D.

Results: 6

1

High-resolution detection of copy number alterations in single cells with HiScanner.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60446-5

By:

Zhao, Yifan;
Luquette, Lovelace J.;
Veit, Alexander D.;
Wang, Xiaochen;
Xi, Ruibin;
Viswanadham, Vinayak V.;
Zhang, Yuwei;
Shao, Diane D.;
Walsh, Christopher A.;
Yang, Hong Wei;
Johnson, Mark D.;
Park, Peter J.

Publication type:

Article

2

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Published in:

JAMA Neurology, 2023, v. 80, n. 9, p. 980, doi. 10.1001/jamaneurol.2023.2363

By:

Akula, Shyam K.;
Chen, Allen Y.;
Neil, Jennifer E.;
Shao, Diane D.;
Mo, Alisa;
Hylton, Norma K.;
DiTroia, Stephanie;
Ganesh, Vijay S.;
Smith, Richard S.;
O'Kane, Katherine;
Yeh, Rebecca C.;
Marciano, Jack H.;
Kirkham, Samantha;
Kenny, Connor J.;
Song, Janet H. T.;
Al Saffar, Muna;
Millan, Francisca;
Harris, David J.;
Murphy, Andrea V.;
Klemp, Kara C.

Publication type:

Article

3

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Published in:

Clinical Genetics, 2023, v. 104, n. 1, p. 73, doi. 10.1111/cge.14335

By:

Mo, Alisa;
Paz‐Ebstein, Emuna;
Yanovsky‐Dagan, Shira;
Lai, Abbe;
Mor‐Shaked, Hagar;
Gilboa, Tal;
Yang, Edward;
Shao, Diane D.;
Walsh, Christopher A.;
Harel, Tamar

Publication type:

Article

4

Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Published in:

Annals of Neurology, 2020, v. 88, n. 6, p. 1153, doi. 10.1002/ana.25904

By:

Shao, Diane D.;
Achkar, Christelle M.;
Lai, Abbe;
Srivastava, Siddharth;
Doan, Ryan N.;
Rodan, Lance H.;
Chen, Allen Y.;
Poduri, Annapurna;
Yang, Edward;
Walsh, Christopher A.;
Irons, Mira B.;
Johnson, Ervin L.;
Ojeda, Mayra Martinez;
Olson, Heather E.;
Sahin, Mustafa;
Stredny, Coral M.;
Tan, Wen‐Hann

Publication type:

Article

5

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602

By:

Kaiyrzhanov, Rauan;
Rocca, Clarissa;
Suri, Mohnish;
Gulieva, Sughra;
Zaki, Maha S.;
Henig, Noa Z.;
Siquier, Karine;
Guliyeva, Ulviyya;
Mounir, Samir M.;
Marom, Daphna;
Allahverdiyeva, Aynur;
Megahed, Hisham;
van Bokhoven, Hans;
Cantagrel, Vincent;
Rad, Aboulfazl;
Pourkeramti, Alemeh;
Dehghani, Boshra;
Shao, Diane D.;
Markus‐Bustani, Keren;
Sofrin‐Drucker, Efrat

Publication type:

Article

6

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Published in:

JAMA Network Open, 2023, v. 6, n. 7, p. e2324380, doi. 10.1001/jamanetworkopen.2023.24380

By:

Koh, Hyun Yong;
Smith, Lacey;
Wiltrout, Kimberly N.;
Podury, Archana;
Chourasia, Nitish;
D'Gama, Alissa M.;
Park, Meredith;
Knight, Devon;
Sexton, Emma L.;
Koh, Julia J.;
Oby, Brandon;
Pinsky, Rebecca;
Shao, Diane D.;
French, Courtney E.;
Shao, Wanqing;
Rockowitz, Shira;
Sliz, Piotr;
Zhang, Bo;
Mahida, Sonal;
Moufawad El Achkar, Christelle

Publication type:

Article