Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 7

Results: 11

Two mutations in the SBDS gene reveal a diagnosis of Shwachman-Diamond syndrome in a patient with atypical symptoms.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006237

By:

Spangenberg, María Noel;
Grille, Sofia;
Simoes, Camila;
Dell'Oca, Nicolás;
Boada, Matilde;
Guillermo, Cecilia;
Raggio, Victor;
Spangenberg, Lucía

Publication type:

Article

Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.

Published in:

2022

By:

Soon Jian Hao, Jonathan;
Chan Sock Hoai;
Tan Shao Weng, Daniel;
Ngeow, Joanne;
Jianbang Chiang

Publication type:

Case Study

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006247

By:

Sangermano, Riccardo;
Biswas, Pooja;
Sullivan, Lori S.;
Place, Emily M.;
Borooah, Shyamanga;
Straubhaar, Juerg;
Pierce, Eric A.;
Daiger, Stephen P.;
Bujakowska, Kinga M.;
Ayaggari, Radha

Publication type:

Article

Genetic diagnosis for adult patients at a genetic clinic.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006235

By:

Kitiwan Rojnueangnit;
Pimjai Anthanont;
Thanitchet Khetkham;
Sukita Puttamanee;
Chupong Ittiwut

Publication type:

Article

Rapid genome sequencing identifies novel variants in complement factor I.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006239

By:

Rodriguez, Katherine M.;
Vaught, Jordan;
Dilley, Michelle;
Ellsworth, Kataryzna;
Heinen, Alaina;
Abud, Edsel M.;
Yuzhou Zhang;
Smith, Richard J. H.;
Sheets, Robert;
Geng, Bob;
Hoffman, Hal M.;
Worthen, H. Michael;
Dimmock, David;
Coufal, Nicole G.

Publication type:

Article

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242

By:

Reynolds, Hayley M.;
Ting Wen;
Farrell, Andrew;
Rong Mao;
Moore, Barry;
Boyden, Steven E.;
Bayrak-Toydemir, Pinar;
Nicholas, Thomas J.;
Rynearson, Shawn;
Holt, Carson;
Miller, Christine;
Noble, Katherine;
Bentley, Dawn;
Palmquist, Rachel;
Ostrander, Betsy;
Manberg, Stephanie;
Bonkowsky, Joshua L.;
Shayota, Brian J.;
Jenkins, Sabrina Malone

Publication type:

Article

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006248

By:

Ganapathi, Mythily;
Buchovecky, Christie M.;
Cristo, Fernando;
Ahimaz, Priyanka;
Ruzal-Shapiro, Carrie;
Wou, Karen;
Inácio, José M.;
Iglesias, Alejandro;
Belo, José A.;
Jobanputra, Vaidehi

Publication type:

Article

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006246

By:

Forrest, Megan E.;
Meyer, Alayne P.;
Figueroa, Stephanie M. Laureano;
Antonellis, Anthony

Publication type:

Article

Whole-genome characterization of myoepithelial carcinomas of the soft tissue.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006227

By:

Cyrta, Joanna;
Rosiene, Joel;
Bareja, Rohan;
Kudman, Sarah;
Al Zoughbi, Wael;
Motanagh, Samaneh;
Wilkes, David C.;
Eng, Kenneth;
Tuo Zhang;
Sticca, Evan;
Mathew, Susan;
Rubin, Mark A.;
Sboner, Andrea;
Elemento, Olivier;
Rubin, Brian P.;
Imielinski, Marcin;
Mosquera, Juan Miguel

Publication type:

Article

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006254

By:

Buchh, Muqsit;
Gillespie, Patrick J.;
Treat, Kayla;
Abreu, Marco A.;
Schwantes-An, Tae-Hwi Linus;
Helm, Benjamin M.;
Fang Fang;
Xiaoling Xuei;
Mantcheva, Lili;
Suhrie, Kristen R.;
Graham, Brett H.;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Germline mosaicism in a family with MBD5 haploinsufficiency.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006253

By:

Bhatia, Mehak;
Cavalleri, Gianpiero L.;
White, Máire;
Delanty, Norman;
Sweeney, Brian J.;
Costello, Daniel J.;
Greally, Marie T.;
Benson, Katherine A.

Publication type:

Article