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Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: foo jn. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570
A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.
Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC. Siddiqi S, et al. Among authors: foo jn. PLoS One. 2014 Dec 4;9(12):e113258. doi: 10.1371/journal.pone.0113258. eCollection 2014. PLoS One. 2014. PMID: 25474699 Free PMC article.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Kausar M, Ain NU, Hayat F, Fatima H, Azim S, Ullah H, Mushtaq M, Khalid S, Hussain S, Naz S, Janjua J, Amjad SB, Baig RM, Makitie O, Qamar R, Ikegawa S, Gen N, Khor CC, Foo JN, Siddiqi S. Kausar M, et al. Among authors: foo jn. BMC Musculoskelet Disord. 2022 Aug 30;23(1):818. doi: 10.1186/s12891-022-05719-6. BMC Musculoskelet Disord. 2022. PMID: 36042462 Free PMC article.
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.
Li J, Foo JN, Schoof N, Varghese JS, Fernandez-Navarro P, Gierach GL, Quek ST, Hartman M, Nord S, Kristensen VN, Pollán M, Figueroa JD, Thompson DJ, Li Y, Khor CC, Humphreys K, Liu J, Czene K, Hall P. Li J, et al. Among authors: foo jn. J Med Genet. 2013 Oct;50(10):666-73. doi: 10.1136/jmedgenet-2013-101708. Epub 2013 Jul 3. J Med Genet. 2013. PMID: 23825393 Free PMC article.
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S. Zazo Seco C, et al. Among authors: foo jn. Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15. Dis Model Mech. 2017. PMID: 28067622 Free PMC article.
130 results