Works matching IS 23732873 AND DT 2020 AND VI 6 AND IP 3

Results: 16

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005033

By:

Wanxue Xu;
Plummer, Lacey;
Quinton, Richard;
Swords, Francesca;
Crowley, William F.;
Seminara, Stephanie B.;
Balasubramanian, Ravikumar

Publication type:

Article

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005298

By:

Jia, Alicia;
James, Elliot;
Lu, Henry Y.;
Sharma, Mehul;
Modi, Bhavi P.;
Biggs, Catherine M.;
Hildebrand, Kyla J.;
Chomyn, Alanna;
Erdle, Stephanie;
Kular, Hasandeep;
Turvey, Stuart E.

Publication type:

Article

Early-onset cerebellar ataxia in a patient with CMT2A2.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005108

By:

Madrid, Ricardo;
Guariglia, Sara R.;
Haworth, Andrea;
Korosh, William;
Gavin, Maureen;
Lyon, Gholson J.

Publication type:

Article

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005074

By:

Oltvai, Zoltán N.;
Smith, Eric A.;
Wiens, Katie;
Nogee, Lawrence M.;
Luquette, Mark;
Nelson, Andrew C.;
Wikenheiser-Brokamp, Kathryn A.

Publication type:

Article

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306

By:

Koboldt, Daniel C.;
Hickey, Scott E.;
Chaudhari, Bimal P.;
Mosher, Theresa Mihalic;
Bedrosian, Tracy;
Crist, Erin;
Kaler, Stephen G.;
McBride, Kim;
White, Peter;
Wilson, Richard K.

Publication type:

Article

Precise breakpoint detection in a patient with 9p- syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005348

By:

Ng, Jeffrey;
Sams, Eleanor;
Baldridge, Dustin;
Kremitzki, Milinn;
Wegner, Daniel J.;
Lindsay, Tina;
Fulton, Robert;
Cole, F. Sessions;
Turner, Tychele N.

Publication type:

Article

Allelic heterogeneity of Proteus syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005181

By:

Buser, Anna;
Lindhurst, Marjorie J.;
Kondolf, Hannah C.;
Yourick, Miranda R.;
Keppler-Noreuil, Kim M.;
Sapp, Julie C.;
Biesecker, Leslie G.

Publication type:

Article

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.

Published in:

2020

By:

AbuBakr, Fatima;
Jeffries, Lauren;
Ji, Weizhen;
McGrath, James M.;
Lakhani, Saquib A.

Publication type:

Case Study

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004721

By:

Sjaarda, Calvin P.;
Kaiser, Beatrice;
McNaughton, Amy J. M.;
Hudson, Melissa L.;
Harris-Lowe, Liam;
Lou, Kyle;
Guerin, Andrea;
Muhammad Ayub;
Xudong Liu

Publication type:

Article

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005231

By:

Miller, Cecelia R.;
Lee, Kristy;
Pfau, Ruthann B.;
Reshmi, Shalini C.;
Corsmeier, Donald J.;
Sayaka Hashimoto;
Dave-Wala, Ashita;
Jayaraman, Vijayakumar;
Koboldt, Daniel;
Matthews, Theodora;
Mouhlas, Danielle;
Stein, Maggie;
McKinney, Aimee;
Grossman, Tom;
Kelly, Benjamin J.;
White, Peter;
Magrini, Vincent;
Wilson, Richard K.;
Mardis, Elaine R.;
Cottrell, Catherine E.

Publication type:

Article

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004879

By:

Cömert, Cagla;
Brick, Lauren;
Ang, Debbie;
Palmfeldt, Johan;
Meaney, Brandon F.;
Kozenko, Mariya;
Georgopoulos, Costa;
Fernandez-Guerra, Paula;
Bross, Peter

Publication type:

Article

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a003970

By:

Thiffault, Isabelle;
Atherton, Andrea;
Heese, Bryce A.;
Abdelmoity, Ahmed T.;
Pawar, Kailash;
Farrow, Emily;
Zellmer, Lee;
Miller, Neil;
Soden, Sarah;
Saunders, Carol

Publication type:

Article

Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a004853

By:

Crawford, Kenneth A.;
Berlow, Noah E.;
Tsay, Jennifer;
Lazich, Michael;
Mancini, Maria;
Noakes, Christopher;
Huang, Tannie;
Keller, Charles

Publication type:

Article

Pediatric genetics: rare is common.

Published in:

2020

By:

Gunter, Chris;
Chung, Wendy K.

Publication type:

Editorial

Reticular dysgenesis caused by an intronic pathogenic variant in AK2.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005017

By:

Ichikawa, Shoji;
Prockop, Susan;
Cunningham-Rundles, Charlotte;
Sifers, Travis;
Conner, Blair R.;
Wu, Sitao;
Karam, Rachid;
Walsh, Michael F.;
Fiala, Elise

Publication type:

Article

A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005322

By:

Garcia, Aixa Gonzalez;
Malone, Julia;
Hong Li

Publication type:

Article