Grody WW - Search Results

1

Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Jacob N, Dasharathy SS, Bui V, Benhammou JN, Grody WW, Singh RR, Pisegna JR. Jacob N, et al. Among authors: grody ww. Dig Dis Sci. 2019 Aug;64(8):2140-2146. doi: 10.1007/s10620-019-05525-6. Epub 2019 Feb 20. Dig Dis Sci. 2019. PMID: 30788684 Free PMC article.

2

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR. Benhammou JN, et al. Among authors: grody ww. J Mol Neurosci. 2017 Mar;61(3):312-314. doi: 10.1007/s12031-016-0878-5. Epub 2016 Dec 23. J Mol Neurosci. 2017. PMID: 28012096 Free PMC article.

3

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Fogel BL, et al. Among authors: grody ww. JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. JAMA Neurol. 2014. PMID: 25133958 Free PMC article.

4

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. Strom SP, et al. Among authors: grody ww. BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49. BMC Med Genet. 2014. PMID: 24886118 Free PMC article.

5

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.

Yazdani S, Badjatiya A, Dorrani N, Lee H, Grody WW, Nelson SF, Dipple KM. Yazdani S, et al. Among authors: grody ww. Mol Genet Metab Rep. 2020 Apr 6;23:100582. doi: 10.1016/j.ymgmr.2020.100582. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32280589 Free PMC article.

6

Molecular Diagnosis of Cystic Fibrosis.

Deignan JL, Grody WW. Deignan JL, et al. Among authors: grody ww. Curr Protoc Hum Genet. 2016 Jan 1;88:9.28.1-9.28.6. doi: 10.1002/0471142905.hg0928s88. Curr Protoc Hum Genet. 2016. PMID: 26724724

7

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Mullegama SV, Jensik P, Li C, Dorrani N; UCLA Clinical Genomics Center; Kantarci S, Blumberg B, Grody WW, Strom SP. Mullegama SV, et al. Among authors: grody ww. Clin Case Rep. 2017 Apr 18;5(6):833-840. doi: 10.1002/ccr3.904. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588821 Free PMC article.

8

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Datkhaeva I, Arboleda VA, Senaratne TN, Nikpour G, Meyerson C, Geng Y, Afshar Y, Scibetta E, Goldstein J, Quintero-Rivera F, Crandall BF, Grody WW, Deignan J, Janzen C. Datkhaeva I, et al. Among authors: grody ww. Am J Med Genet A. 2018 Dec;176(12):2829-2834. doi: 10.1002/ajmg.a.40533. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244526 Review.

9

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: grody ww. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.

10

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. Zhao Y, et al. Among authors: grody ww. J Mol Med (Berl). 2021 Nov;99(11):1623-1638. doi: 10.1007/s00109-021-02112-z. Epub 2021 Aug 13. J Mol Med (Berl). 2021. PMID: 34387706 Free PMC article.

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