Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

Autor: Ghaffar, Amama^1,2 (AUTHOR), Akhter, Tehmeena^1,2 (AUTHOR), Strømme, Petter³ (AUTHOR), Misceo, Doriana⁴ (AUTHOR), Khan, Amjad^5,6,7 (AUTHOR), Frengen, Eirik⁴ (AUTHOR), Umair, Muhammad⁸ (AUTHOR), Isidor, Bertrand⁹ (AUTHOR), Cogné, Benjamin⁹ (AUTHOR), Khan, Asma A.² (AUTHOR), Bruel, Ange-Line¹⁰ (AUTHOR), Sorlin, Arthur^10,11 (AUTHOR), Kuentz, Paul¹⁰ (AUTHOR), Chiaverini, Christine¹² (AUTHOR), Innes, A. Micheil¹³ (AUTHOR), Zech, Michael^14,15,16 (AUTHOR), Baláž, Marek¹⁷ (AUTHOR), Havrankova, Petra¹⁸ (AUTHOR), Jech, Robert¹⁸ (AUTHOR), Ahmed, Zubair M.¹ (AUTHOR)

Publikováno v: Communications Biology. 7/8/2024, Vol. 7 Issue 1, p1-13. 13p.

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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Autor: Booth, Kevin T., Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T., Hussain, Mureed, Frees, Kathy, Renkes, Erika M., Nishimura, Carla J., Shahzad, Mohsin, Smith, Richard J., Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima

Publikováno v: Human Genetics; Dec2020, Vol. 139 Issue 12, p1565-1574, 10p

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.

Autor: Ghaffar A; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Rasheed F; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Rashid M; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HE, Nijmegen, The Netherlands., Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Riazuddin S; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan., Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA. sriazuddin@som.umaryland.edu.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA. sriazuddin@som.umaryland.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Feb; Vol. 30 (2), pp. 243-247. Date of Electronic Publication: 2021 Nov 08.