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Items: 1 to 50 of 111

1.

Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.

Sulaiman RA, Al-Owain M.

Eur J Med Genet. 2018 Oct 26:103562. doi: 10.1016/j.ejmg.2018.10.014. [Epub ahead of print] Review.

PMID:
31610876
2.

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

Monies D, Vågbø CB, Al-Owain M, Alhomaidi S, Alkuraya FS.

Am J Hum Genet. 2019 Jun 6;104(6):1202-1209. doi: 10.1016/j.ajhg.2019.03.026. Epub 2019 May 9.

PMID:
31079898
3.

An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.

Al-Mutairy EA, Imtiaz FA, Khalid M, Al Qattan S, Saleh S, Mahmoud LM, Al-Saif MM, Al-Haj L, Al-Enazi A, AlJebreen AM, Mohammed SF, Mobeireek AF, Alkattan K, Chisti MA, Luzina IG, Al-Owain M, Weheba I, Abdelsayed AM, Ramzan K, Janssen LJ, Conca W, Alaiya A, Collison KS, Meyer BF, Atamas SP, Khabar KS, Hasday JD, Al-Mohanna F.

Eur Respir J. 2019 Jul 18;54(1). pii: 1802041. doi: 10.1183/13993003.02041-2018. Print 2019 Jul.

4.

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M.

Mol Genet Metab Rep. 2019 Jan 9;18:22-29. doi: 10.1016/j.ymgmr.2018.12.004. eCollection 2019 Mar.

5.

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS.

Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.

PMID:
30561787
6.

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Balobaid A, Ben-Omran T, Ramzan K, Altassan R, Almureikhi M, Musa S, Al-Hashmi N, Al-Owain M, Al-Zaidan H, Al-Hassnan Z, Imtiaz F, Al-Sayed M.

Am J Med Genet A. 2018 Dec;176(12):2850-2857. doi: 10.1002/ajmg.a.40627. Epub 2018 Oct 22.

PMID:
30345601
7.

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS.

Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.

8.

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.

Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14.

PMID:
30214071
9.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

10.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

11.

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS.

Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3.

PMID:
30054919
12.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Derar N, Al-Hassnan ZN, Al-Owain M, Monies D, Abouelhoda M, Meyer BF, Moghrabi N, Alkuraya FS.

Genet Med. 2019 Jan;21(1):185-188. doi: 10.1038/s41436-018-0014-8. Epub 2018 Jun 11.

PMID:
29892088
13.

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Ramzan K, Al-Owain M, Huma R, Al-Hazzaa SAF, Al-Ageel S, Imtiaz F, Al-Sayed M.

Int J Pediatr Otorhinolaryngol. 2018 May;108:17-21. doi: 10.1016/j.ijporl.2018.02.016. Epub 2018 Feb 14.

PMID:
29605349
14.

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N, Khan AO, Alsahli S, Abdel-Salam G, Nowilaty SR, Mansour AM, Nabil A, Al-Owain M, Sogati S, Salih MA, Kamal AM, Alsharif H, Alsaif HS, Alzahrani SS, Abdulwahab F, Ibrahim N, Hashem M, Faquih T, Shah ZA, Abouelhoda M, Monies D, Dasouki M, Shaheen R, Wakil SM, Aldahmesh MA, Alkuraya FS.

Clin Genet. 2018 Jun;93(6):1210-1222. doi: 10.1111/cge.13239. Epub 2018 Mar 25.

PMID:
29450879
15.

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS.

Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.

PMID:
29383837
16.

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

Bakshi NA, Al-Anzi T, Mohamed SY, Rahbeeni Z, AlSayed M, Al-Owain M, Sulaiman RA.

Am J Med Genet A. 2018 Mar;176(3):687-691. doi: 10.1002/ajmg.a.38599. Epub 2018 Jan 13.

PMID:
29330964
17.

Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS.

Genet Med. 2018 Mar;20(3):380. doi: 10.1038/gim.2017.203. Epub 2018 Jan 4.

PMID:
29300385
18.

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS.

Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5.

PMID:
29239743
19.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

20.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N.

Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.

PMID:
29122497
21.

Molecular and clinical spectra of FBXL4 deficiency.

El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
22.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS.

Ann Neurol. 2017 Oct;82(4):562-577. doi: 10.1002/ana.25044. Epub 2017 Oct 14.

PMID:
28892560
23.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.

J Med Genet. 2017 Aug 9. pii: jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. [Epub ahead of print]

PMID:
28794131
24.

Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.

Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC.

J Neurophysiol. 2017 Oct 1;118(4):2402-2411. doi: 10.1152/jn.00284.2017. Epub 2017 Jul 26.

25.

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Al-Ashwal AA, Al-Sagheir A, Ramzan K, Al-Owain M, Allam R, Qari A, Al-Numair NS, Imtiaz F.

Horm Res Paediatr. 2017;88(2):119-126. doi: 10.1159/000475991. Epub 2017 Jul 25.

PMID:
28743110
26.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

27.

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.

Nashabat M, Maegawa G, Nissen PH, Nexo E, Al-Shamrani H, Al-Owain M, Alfadhel M.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e430-e436. doi: 10.1097/MPH.0000000000000857.

PMID:
28538514
28.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M.

Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun.

29.

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS.

Genet Med. 2017 Oct;19(10):1144-1150. doi: 10.1038/gim.2017.22. Epub 2017 Apr 6. Erratum in: Genet Med. 2018 Jan 04;:.

PMID:
28383543
30.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.

Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120.

PMID:
28328124
31.

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K, Bin-Abbas B, Al-Jomaa L, Allam R, Al-Owain M, Imtiaz F.

BMC Endocr Disord. 2017 Mar 16;17(1):17. doi: 10.1186/s12902-017-0164-8.

32.

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.

Yagita Y, Shinohara K, Abe Y, Nakagawa K, Al-Owain M, Alkuraya FS, Fujiki Y.

J Biol Chem. 2017 Jan 13;292(2):691-705. doi: 10.1074/jbc.M116.760090. Epub 2016 Nov 29.

33.

Characterizing the morbid genome of ciliopathies.

Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA; Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.

Genome Biol. 2016 Nov 28;17(1):242.

34.

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Sulaiman RA, Shaheen MY, Al-Zaidan H, Al-Hassnan Z, Al-Sayed M, Rahbeeni Z, Bakshi NA, Kaya N, Aldosary M, Al-Owain M.

Intractable Rare Dis Res. 2016 Aug;5(3):227-30. doi: 10.5582/irdr.2016.01018.

35.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG.

Am J Hum Genet. 2016 Sep 1;99(3):785. doi: 10.1016/j.ajhg.2016.08.009. Epub 2016 Sep 1. No abstract available.

36.

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M.

J Med Genet. 2016 Nov;53(11):786-792. doi: 10.1136/jmedgenet-2015-103637. Epub 2016 Aug 31.

PMID:
27582084
37.

Depression in adult patients with biotin responsive basal ganglia disease.

Bubshait DK, Rashid A, Al-Owain MA, Sulaiman RA.

Drug Discov Ther. 2016;10(4):223-5. doi: 10.5582/ddt.2016.01046. Epub 2016 Aug 18.

38.

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. No abstract available.

PMID:
27498540
39.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG.

Am J Hum Genet. 2016 Jul 7;99(1):228-35. doi: 10.1016/j.ajhg.2016.05.023. Erratum in: Am J Hum Genet. 2016 Sep 1;99(3):785.

40.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.

J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):759.

PMID:
27287710
41.

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M.

Int J Dermatol. 2016 Jun;55(6):673-9. doi: 10.1111/ijd.13279. Epub 2016 Apr 7.

PMID:
27061915
42.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

43.

ADAT3-related intellectual disability: Further delineation of the phenotype.

El-Hattab AW, Saleh MA, Hashem A, Al-Owain M, Asmari AA, Rabei H, Abdelraouf H, Hashem M, Alazami AM, Patel N, Shaheen R, Faqeih EA, Alkuraya FS.

Am J Med Genet A. 2016 May;170A(5):1142-7. doi: 10.1002/ajmg.a.37578. Epub 2016 Feb 3.

PMID:
26842963
44.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.

JIMD Rep. 2016;29:39-46. Epub 2015 Nov 29.

45.

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Cuturilo G, Hodge JC, Runke CK, Thorland EC, Al-Owain MA, Ellison JW, Babovic-Vuksanovic D.

Clin Genet. 2016 Jan;89(1):109-14. doi: 10.1111/cge.12572. Epub 2015 Mar 15. Review.

PMID:
25691298
46.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

47.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi MS, Kaya N, Abalkhail H, Al-Abdullatif A, Rashed M, Al-Owain M, Peltekova I, Zaidi SH.

Ann Saudi Med. 2014 Mar-Apr;34(2):107-14. doi: 10.5144/0256-4947.2014.107.

48.

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M.

Muscle Nerve. 2014 Oct;50(4):610-3. doi: 10.1002/mus.24302. Epub 2014 Aug 30.

PMID:
24889862
49.

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Ramzan K, Taibah K, Tahir AI, Al-Tassan N, Berhan A, Khater AM, Al-Hazzaa SA, Al-Owain M, Imtiaz F.

Eur J Med Genet. 2014 May-Jun;57(6):253-8. doi: 10.1016/j.ejmg.2014.04.004. Epub 2014 Apr 21.

PMID:
24768815
50.

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N.

Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25.

PMID:
24668509

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