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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Riazuddin S, et al. Among authors: polla dl. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26. Mol Psychiatry. 2017. PMID: 27457812 Free PMC article.
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM. Polla DL, et al. Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244165 Free article.
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S. Richard EM, et al. Among authors: polla dl. Am J Hum Genet. 2019 Oct 3;105(4):869-878. doi: 10.1016/j.ajhg.2019.09.007. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564433 Free PMC article.
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE. Ansar M, et al. Among authors: polla dl. Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24. Genet Med. 2018. PMID: 28837161 Free article.
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Riazuddin S, et al. Among authors: polla dl. Mol Psychiatry. 2020 Nov;25(11):3101-3102. doi: 10.1038/s41380-018-0128-z. Mol Psychiatry. 2020. PMID: 30171209 Free PMC article.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S. de Brouwer APM, et al. Among authors: polla dl. Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026. Am J Hum Genet. 2018. PMID: 30526862 Free PMC article.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
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