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Results: 8

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
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
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
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
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