Umair M - Search Results

1

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: umair m. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.

2

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.

Ullah A, Khalid M, Umair M, Khan SA, Bilal M, Khan S, Ahmad W. Ullah A, et al. Among authors: umair m. Congenit Anom (Kyoto). 2018 Sep;58(5):173-175. doi: 10.1111/cga.12264. Epub 2017 Dec 22. Congenit Anom (Kyoto). 2018. PMID: 29232001 No abstract available.

3

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W. Ullah A, et al. Among authors: umair m. Ann Hum Genet. 2018 May;82(3):129-134. doi: 10.1111/ahg.12233. Epub 2018 Jan 10. Ann Hum Genet. 2018. PMID: 29322508 Free PMC article.

4

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

Ullah A, Ali RH, Majeed AI, Liaqat K, Shah PW, Khan B, Bilal M, Umair M, Ahmad W. Ullah A, et al. Among authors: umair m. Eur J Med Genet. 2019 Apr;62(4):278-281. doi: 10.1016/j.ejmg.2018.08.005. Epub 2018 Aug 11. Eur J Med Genet. 2019. PMID: 30107244

5

Clinical Genetics of Polydactyly: An Updated Review.

Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Umair M, et al. Front Genet. 2018 Nov 6;9:447. doi: 10.3389/fgene.2018.00447. eCollection 2018. Front Genet. 2018. PMID: 30459804 Free PMC article.

6

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Ahmad W, Leal SM. Liaqat K, et al. Among authors: umair m. J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30. J Hum Genet. 2019. PMID: 30498240 Free PMC article.

7

SGCD Homozygous Nonsense Mutation (p.Arg97^∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Younus M, Ahmad F, Malik E, Bilal M, Kausar M, Abbas S, Shaheen S, Kakar MU, Alfadhel M, Umair M. Younus M, et al. Among authors: umair m. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.00727. eCollection 2018. Front Genet. 2019. PMID: 30733730 Free PMC article.

8

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Umair M, Bilal M, Ali RH, Alhaddad B, Ahmad F, Abdullah, Haack TB, Alfadhel M, Ansar M, Meitinger T, Ahmad W. Umair M, et al. Clin Genet. 2019 Aug;96(2):134-139. doi: 10.1111/cge.13547. Epub 2019 Apr 22. Clin Genet. 2019. PMID: 30945277

9

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. Among authors: umair m. J Hum Genet. 2020 Jan;65(2):187-192. doi: 10.1038/s10038-019-0691-4. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656313 Free PMC article.

10

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.

Khan A, Umair M, Sharaf RA, Khan MI, Ullah A, Abbas S, Shaheen N, Bilal M, Ahamd F. Khan A, et al. Among authors: umair m. Hum Genome Var. 2020 Nov 27;7(1):41. doi: 10.1038/s41439-020-00129-3. Hum Genome Var. 2020. PMID: 33298898 Free PMC article.

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