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Items: 1 to 20 of 410

1.

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS.

Hum Genet. 2020 Jan 20. doi: 10.1007/s00439-020-02117-7. [Epub ahead of print]

PMID:
31960134
2.

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.

Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM.

Nat Med. 2020 Jan 20. doi: 10.1038/s41591-019-0730-x. [Epub ahead of print]

PMID:
31959991
3.

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.

Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW.

Nat Med. 2020 Jan;26(1):98-109. doi: 10.1038/s41591-019-0705-y. Epub 2020 Jan 13.

PMID:
31932796
4.

The study of Lynch syndrome in a special population reveals a strong founder effect and an unusual mutational mechanism in familial adenomatous polyposis.

Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Siraj S, Alassiri A, Al-Dayel F, Alkuraya FS, Al-Kuraya KS.

Gut. 2020 Jan 10. pii: gutjnl-2019-320511. doi: 10.1136/gutjnl-2019-320511. [Epub ahead of print] No abstract available.

5.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
6.

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.

Zhang K, Lentini JM, Prevost CT, Hashem MO, Alkuraya FS, Fu D.

Hum Mutat. 2020 Jan 3. doi: 10.1002/humu.23976. [Epub ahead of print]

PMID:
31898845
7.

Confirming the recessive inheritance of PERP-related erythrokeratoderma.

Patel N, Alkeraye S, Alobeid E, Alshidi T, Helaby R, Abdulwahab F, Shamseldin HE, Alkuraya FS.

Clin Genet. 2020 Jan 2. doi: 10.1111/cge.13699. [Epub ahead of print]

PMID:
31898316
8.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.

Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM.

Am J Med Genet A. 2019 Dec 27. doi: 10.1002/ajmg.a.61450. [Epub ahead of print]

PMID:
31880405
9.

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM.

Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27.

PMID:
31785787
10.

International perspectives on the implementation of reproductive carrier screening.

Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J.

Prenat Diagn. 2019 Nov 27. doi: 10.1002/pd.5611. [Epub ahead of print] Review.

PMID:
31774570
11.

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.

Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS.

Clin Genet. 2019 Nov 15. doi: 10.1111/cge.13676. [Epub ahead of print]

PMID:
31730227
12.

Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Bohlega S, Abusrair AH, Al-Ajlan FS, Alharbi N, Al-Semari A, Bohlega B, Abualsaud D, Alkuraya F.

Parkinsonism Relat Disord. 2019 Dec;69:99-103. doi: 10.1016/j.parkreldis.2019.10.007. Epub 2019 Oct 13.

PMID:
31726291
13.

Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer.

Masoodi T, Siraj AK, Siraj S, Azam S, Qadri Z, Parvathareddy SK, Al-Sobhi SS, AlDawish M, Alkuraya FS, Al-Kuraya KS.

Am J Hum Genet. 2019 Nov 7;105(5):959-973. doi: 10.1016/j.ajhg.2019.09.026. Epub 2019 Oct 24.

PMID:
31668701
14.

Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer.

Masoodi T, Siraj AK, Siraj S, Azam S, Qadri Z, Albalawy WN, Parvathareddy SK, Al-Sobhi SS, Al-Dayel F, Alkuraya FS, Al-Kuraya KS.

Thyroid. 2019 Dec 4. doi: 10.1089/thy.2019.0052. [Epub ahead of print]

PMID:
31668133
15.

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS.

Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17.

PMID:
31630791
16.

Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1.

Magliyah MS, Alsulaiman SM, Nowilaty SR, Alkuraya FS, Schatz P.

Ophthalmol Retina. 2020 Jan;4(1):77-83. doi: 10.1016/j.oret.2019.08.005. Epub 2019 Aug 22.

PMID:
31607522
17.

Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans.

Shaheen R, Alsahli S, Ewida N, Alzahrani F, Shamseldin HE, Patel N, Al Qahtani A, Alhebby H, Alhashem A, Al-Sheddi T, Alomar R, Alobeid E, Abouelhoda M, Monies D, Al-Hussaini A, Alzouman MA, Alshagrani M, Faqeih E, Alkuraya FS.

Hepatology. 2019 Oct 8. doi: 10.1002/hep.30982. [Epub ahead of print]

PMID:
31595528
18.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS.

Am J Hum Genet. 2019 Oct 3;105(4):879. doi: 10.1016/j.ajhg.2019.09.019. No abstract available.

19.

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.

Alanzi T, Alhashem A, Dagriri K, Alzahrani F, Alkuraya FS.

Eur J Hum Genet. 2019 Sep 30. doi: 10.1038/s41431-019-0524-0. [Epub ahead of print]

PMID:
31570783
20.

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.

Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS.

Hum Genet. 2019 Dec;138(11-12):1247-1257. doi: 10.1007/s00439-019-02063-z. Epub 2019 Sep 19.

PMID:
31538237

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