Works matching IS 23732873 AND DT 2021 AND VI 7 AND IP 3

Results: 8

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005827

By:

Briere, Lauren C.;
Walker, Melissa A.;
High, Frances A.;
Cooper, Cynthia;
Rogers, Cassandra A.;
Callahan, Christine J.;
Ryosuke Ishimura;
Yoshinobu Ichimura;
Caruso, Paul A.;
Sharma, Nutan;
Brokamp, Elly;
Koziura, Mary E.;
Mohammad, Shekeeb S.;
Dale, Russell C.;
Riley, Lisa G.;
Phillips, John A.;
Masaaki Komatsu;
Sweetser, David A.

Publication type:

Article

Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006090

By:

Bazinet, Alexandre;
Heath, John;
Chong, Anne-Sophie;
Simo-Cheyou, Estelle R.;
Worme, Samantha;
Polo, Barbara Rivera;
Foulkes, William D.;
Caplan, Stephen;
Johnson, Nathalie A.;
Orthwein, Alexandre;
Mercier, François E.

Publication type:

Article

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006081

By:

Moss, Tonya;
May, Melanie;
Flanagan-Steet, Heather;
Caylor, Raymond;
Yong-Hui Jiang;
McDonald, Marie;
Friez, Michael;
McConkie-Rosell, Allyn;
Steet, Richard

Publication type:

Article

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006085

By:

James, Kiely N.;
Megan Lau;
Shayan, Katayoon;
Lenberg, Jerica;
Mardach, Rebecca;
Ignacio Jr., Romeo;
Halbach, Jonathan;
Choi, Lillian;
Kumar, Soma;
Ellsworth, Katarzyna A.

Publication type:

Article

Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006049

By:

Berlow, Noah E.;
Crawford, Kenneth A.;
Bult, Carol J.;
Noakes, Christopher;
Sloma, Ido;
Rudzinski, Erin R.;
Keller, Charles

Publication type:

Article

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005991

By:

Singh, Ram;
Cohen, Ana S. A.;
Poulton, Cathryn;
Hjortshøj, Tina Duelund;
Akahira-Azuma, Moe;
Mendiratta, Geetu;
Khan, Wahab A.;
Azmanov, Dimitar N.;
Woodward, Karen J.;
Kirchhoff, Maria;
Lisong Shi;
Edelmann, Lisa;
Baynam, Gareth;
Scott, Stuart A.;
Wang Jabs, Ethylin

Publication type:

Article

Incidental identification of inv(16)(p13.1q22)/CBFB-MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen: implications for diagnosis and therapy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006084

By:

Quesada, Andrés E.;
Luthra, Rajyalakshmi;
Jabbour, Elias;
Patel, Keyur P.;
Khoury, Joseph D.;
Zhenya Tang;
Alvarez, Hector;
Mallampati, Saradhi;
Garcia-Manero, Guillermo;
Montalban-Bravo, Guillermo;
Medeiros, L. Jeffrey;
Kanagal-Shamanna, Rashmi

Publication type:

Article

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006091

By:

Owen, Mallory J.;
Lenberg, Jerica;
Feigenbaum, Annette;
Gold, Jeffrey;
Chau, Kevin;
Bezares-Orin, Zaira;
Yan Ding;
Chowdhury, Shimul;
Kingsmore, Stephen F.

Publication type:

Article