Girisha KM - Search Results

1

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Shaheen R, et al. Among authors: girisha km. Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214071 Free PMC article.

2

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.

3

Fetal akinesia deformation sequence: expanding the phenotypic spectrum.

Nayak SS, Kadavigere R, Mathew M, Kumar P, Hall JG, Girisha KM. Nayak SS, et al. Among authors: girisha km. Am J Med Genet A. 2014 Oct;164A(10):2643-8. doi: 10.1002/ajmg.a.36673. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25045026

4

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Girisha KM, Shukla A, Trujillano D, Bhavani GS, Hebbar M, Kadavigere R, Rolfs A. Girisha KM, et al. Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26880018

5

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Kotabagi S, Shah H, Shukla A, Girisha KM. Kotabagi S, et al. Among authors: girisha km. Clin Genet. 2017 Sep;92(3):323-326. doi: 10.1111/cge.13006. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28276056

6

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Somashekar PH, Shukla A, Girisha KM. Somashekar PH, et al. Among authors: girisha km. Ophthalmic Genet. 2017 Dec;38(6):533-536. doi: 10.1080/13816810.2017.1301967. Epub 2017 Apr 7. Ophthalmic Genet. 2017. PMID: 28388256

7

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A. Hebbar M, et al. Among authors: girisha km. Eur J Med Genet. 2017 Oct;60(10):533-535. doi: 10.1016/j.ejmg.2017.07.010. Epub 2017 Jul 12. Eur J Med Genet. 2017. PMID: 28711739 Free PMC article.

8

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

Hebbar M, Kanthi A, Shrikiran A, Patil S, Muranjan M, Francis F, Bhat B V, Girisha KM, Shukla A. Hebbar M, et al. Among authors: girisha km. Am J Med Genet A. 2018 Jan;176(1):156-160. doi: 10.1002/ajmg.a.38522. Epub 2017 Nov 17. Am J Med Genet A. 2018. PMID: 29150899

9

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.

Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A. Shukla A, et al. Among authors: girisha km. J Hum Genet. 2018 Jan;63(1):19-25. doi: 10.1038/s10038-017-0363-1. Epub 2017 Nov 16. J Hum Genet. 2018. PMID: 29215095

10

A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.

Shukla A, Saneto RP, Hebbar M, Mirzaa G, Girisha KM. Shukla A, et al. Among authors: girisha km. Am J Med Genet A. 2018 May;176(5):1232-1237. doi: 10.1002/ajmg.a.38687. Am J Med Genet A. 2018. PMID: 29681094 Free PMC article.

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