Found: 52

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  • Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479
    By:
    • You, Mikyoung;
    • Shamseldin, Hanan E.;
    • Fogle, Halle M.;
    • Rushing, Blake R.;
    • AlMalki, Reem H.;
    • Jaafar, Amal;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Abdel Rahman, Anas M.;
    • Krupenko, Natalia I.;
    • Alkuraya, Fowzan S.;
    • Krupenko, Sergey A.
    Publication type:
    Article

  • Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
    By:
    • AlAbdi, Lama;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Aljamal, Bayan;
    • Alqahtani, Mashael;
    • Almulhim, Aisha;
    • Hamid, Halima;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Al-Owain, Mohammed;
    • Alhashem, Amal;
    • Al Tala, Saeed;
    • Khan, Arif O.;
    • Mardawi, Elham;
    • Alkuraya, Hisham;
    • Faqeih, Eissa
    Publication type:
    Article

  • Human 'knockouts' of CSF3 display severe congenital neutropenia.

    Published in:
    British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
    By:
    • Khouj, Ebtissal;
    • Marafi, Dana;
    • Aljamal, Bayan;
    • Hajiya, Anwar;
    • Elshafie, Reem M.;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Aboelanine, Ashraf H.;
    • Awaji, Ali;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Clinical utility of polygenic scores for cardiometabolic disease in Arabs.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41985-1
    By:
    • Shim, Injeong;
    • Kuwahara, Hiroyuki;
    • Chen, NingNing;
    • Hashem, Mais O.;
    • AlAbdi, Lama;
    • Abouelhoda, Mohamed;
    • Won, Hong-Hee;
    • Natarajan, Pradeep;
    • Ellinor, Patrick T.;
    • Khera, Amit V.;
    • Gao, Xin;
    • Alkuraya, Fowzan S.;
    • Fahed, Akl C.
    Publication type:
    Article

  • Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40909-3
    By:
    • AlAbdi, Lama;
    • Maddirevula, Sateesh;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Hamid, Halima;
    • Almulhim, Aisha;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Alqahtani, Mashael;
    • Altuwaijri, Norah;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Alzahrani, Fatema;
    • Al-Sagheir, Afaf I.;
    • Mansour, Ahmad M.;
    • Alawaji, Ali;
    • Aldhilan, Amal;
    • Alhashem, Amal
    Publication type:
    Article

  • ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
    By:
    • Thomas, Ajay X.;
    • Link, Nichole;
    • Robak, Laurie A.;
    • Demmler‐Harrison, Gail;
    • Pao, Emily C.;
    • Squire, Audrey E.;
    • Michels, Savannah;
    • Cohen, Julie S.;
    • Comi, Anne;
    • Prontera, Paolo;
    • Verrotti di Pianella, Alberto;
    • Di Cara, Giuseppe;
    • Garavelli, Livia;
    • Caraffi, Stefano Giuseppe;
    • Fusco, Carlo;
    • Zuntini, Roberta;
    • Parks, Kendall C.;
    • Sherr, Elliott H.;
    • Hashem, Mais O.;
    • Maddirevula, Sateesh
    Publication type:
    Article

  • Mitochondrial "dysmorphology" in variant classification.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
    By:
    • Shamseldin, Hanan E.;
    • Alhashem, Amal;
    • Tabarki, Brahim;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Sougrat, Rachid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • PLXNA2 as a candidate gene in patients with intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3859, doi. 10.1002/ajmg.a.62440
    By:
    • Altuame, Fadie D.;
    • Shamseldin, Hanan E.;
    • Albatti, Turki H.;
    • Hashem, Mais;
    • Ewida, Nour;
    • Abdulwahab, Firdous;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00973-0
    By:
    • Shamseldin, Hanan E.;
    • AlAbdi, Lama;
    • Maddirevula, Sateesh;
    • Alsaif, Hessa S.;
    • Alzahrani, Fatema;
    • Ewida, Nour;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Abuyousef, Omar;
    • Kuwahara, Hiroyuki;
    • Gao, Xin;
    • Molecular Autopsy Consortium;
    • Aldhalaan, Hesham;
    • Alfaifi, Abdullah;
    • Alhashem, Amal;
    • Alhasan, Khalid;
    • Alnemer, Maha;
    • Alsahan, Nada;
    • Alyamani, Suad;
    • Alzaidan, Hamad
    Publication type:
    Article

  • CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
    By:
    • Palmer, Elizabeth E.;
    • Whitton, Chloe;
    • Hashem, Mais O.;
    • Clark, Robin D.;
    • Ramanathan, Subhadra;
    • Starr, Lois J.;
    • Velasco, Danita;
    • De Dios, John Karl;
    • Singh, Emily;
    • Cormier‐Daire, Valerie;
    • Chopra, Maya;
    • Rodan, Lance H.;
    • Nellaker, Christoffer;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Panzer, Karin;
    • Sidhu, Alpa;
    • Wentzensen, Ingrid M.;
    • Lacombe, Didier;
    • Michaud, Vincent
    Publication type:
    Article

  • Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2789, doi. 10.1002/ajmg.a.61876
    By:
    • Abualsaud, Dalia;
    • Hashem, Mais;
    • AlHashem, Amal;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Further delineation of SMG9‐related heart and brain malformation syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1624, doi. 10.1002/ajmg.a.62139
    By:
    • Altuwaijri, Norah;
    • Abdelbaky, Mona;
    • Alhashem, Amal;
    • Alrakaf, Maha;
    • Hashem, Mais;
    • Alzahrani, Fatema;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1628
    By:
    • Khan, Arif O.;
    • AlAbdi, Lama;
    • Patel, Nisha;
    • Helaby, Rana;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • AlBadr, Fahad B.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 370, doi. 10.1002/ajmg.a.61957
    By:
    • Altuame, Fadie D.;
    • Haldeman‐Englert, Chad;
    • Cupler, Edward;
    • Al Muhaizea, Mohammad A.;
    • Al‐Zaidan, Hamad I.;
    • Hashem, Mais;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580484
    By:
    • Maddirevula, Sateesh;
    • Shamseldin, Hanan E.;
    • Sirr, Amy;
    • AlAbdi, Lama;
    • Lo, Russell S.;
    • Ewida, Nour;
    • Al-Qahtani, Mashael;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Aboyousef, Omar;
    • Kaya, Namik;
    • Monies, Dorota;
    • Salem, May H.;
    • Al Harbi, Naffaa;
    • Aldhalaan, Hesham M.;
    • Alzaidan, Hamad;
    • Almanea, Hadeel M.;
    • Alsalamah, Abrar K.;
    • Al Mutairi, Fuad;
    • Ismail, Samira
    Publication type:
    Article

  • An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

    Published in:
    Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
    By:
    • Shamseldin, Hanan E.;
    • Al Mogarri, Ibrahim;
    • Alqwaiee, Mansour M.;
    • Alharbi, Adel S.;
    • Baqais, Khaled;
    • AlSaadi, Muslim;
    • AlAnzi, Talal;
    • Alhashem, Amal;
    • Saghier, Afaf;
    • Ameen, Waleed;
    • Ibrahim, Niema;
    • Yang, Jason;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Chivukula, Raghu R.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

    Published in:
    Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
    By:
    • Maddirevula, Sateesh;
    • Kuwahara, Hiroyuki;
    • Ewida, Nour;
    • Shamseldin, Hanan E.;
    • Patel, Nisha;
    • Alzahrani, Fatema;
    • AlSheddi, Tarfa;
    • AlObeid, Eman;
    • Alenazi, Mona;
    • Alsaif, Hessa S.;
    • Alqahtani, Maha;
    • AlAli, Maha;
    • Al Ali, Hatoon;
    • Helaby, Rana;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Hanna, Nadine;
    • Monies, Dorota;
    • Derar, Nada
    Publication type:
    Article

  • Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
    By:
    • Blackburn, Patrick R.;
    • Schultz, Matthew J.;
    • Lahner, Carrie A.;
    • Li, Dong;
    • Bhoj, Elizabeth;
    • Fisher, Laura J.;
    • Renaud, Deborah L.;
    • Kenney, Amy;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Zain Seidahmed, Mohammed;
    • Hasadsri, Linda;
    • Schrier Vergano, Samantha A.;
    • Alkuraya, Fowzan S.;
    • Lanpher, Brendan C.
    Publication type:
    Article

  • A genomics approach to females with infertility and recurrent pregnancy loss.

    Published in:
    Human Genetics, 2020, v. 139, n. 5, p. 605, doi. 10.1007/s00439-020-02143-5
    By:
    • Maddirevula, Sateesh;
    • Awartani, Khalid;
    • Coskun, Serdar;
    • AlNaim, Latifa F.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alhassan, Saad;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • The natural history of infantile neuroaxonal dystrophy.

    Published in:
    2020
    By:
    • Altuame, Fadie D.;
    • Foskett, Gretchen;
    • Atwal, Paldeep S.;
    • Endemann, Sarah;
    • Midei, Mark;
    • Milner, Peter;
    • Salih, Mustafa A.;
    • Hamad, Muddathir;
    • Al-Muhaizea, Mohammad;
    • Hashem, Mais;
    • Alkuraya, Fowzan S.
    Publication type:
    journal article

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

    Published in:
    Human Mutation, 2020, v. 41, n. 3, p. 600, doi. 10.1002/humu.23976
    By:
    • Zhang, Kejia;
    • Lentini, Jenna M.;
    • Prevost, Christopher T.;
    • Hashem, Mais O.;
    • Alkuraya, Fowzan S.;
    • Fu, Dragony
    Publication type:
    Article

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

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
    By:
    • Broeks, Melissa H.;
    • Shamseldin, Hanan E.;
    • Alhashem, Amal;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Alshedi, Tarfa;
    • Alobaid, Iman;
    • Zwartkruis, Fried;
    • Westland, Denise;
    • Fuchs, Sabine;
    • Verhoeven-Duif, Nanda M.;
    • Jans, Judith J. M.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.

    Published in:
    Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
    By:
    • Shaheen, Ranad;
    • Mark, Paul;
    • Prevost, Christopher T.;
    • AlKindi, Adila;
    • Alhag, Ahmad;
    • Estwani, Fatima;
    • Al‐Sheddi, Tarfa;
    • Alobeid, Eman;
    • Alenazi, Mona M.;
    • Ewida, Nour;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Bryant, Emily M.;
    • Spinelli, Egidio;
    • Millichap, John;
    • Barnett, Sarah S.;
    • Kearney, Hutton M.;
    • Accogli, Andrea;
    • Scala, Marcello
    Publication type:
    Article

  • Congenital glaucoma and CYP1B1: an old story revisited.

    Published in:
    Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z
    By:
    • Alsaif, Hessa S.;
    • Khan, Arif O.;
    • Patel, Nisha;
    • Alkuraya, Hisham;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Ibrahim, Niema;
    • Aldahmesh, Mohammed A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266
    By:
    • Carter, Lauren B.;
    • Battaglia, Agatino;
    • Cherry, Athena;
    • Manning, Melanie A.;
    • Ruzhnikov, Maura RZ;
    • Bird, Lynne M.;
    • Dowsett, Leah;
    • Graham, John M.;
    • Alkuraya, Fowzan S.;
    • Hashem, Mais;
    • Dinulos, Mary Beth;
    • Vallee, Stephanie;
    • Adam, Margaret P.;
    • Glass, Ian;
    • Beck, Anita E.;
    • Stevens, Cathy A.;
    • Zackai, Elaine;
    • McDougall, Carey;
    • Keena, Beth;
    • Peron, Angela
    Publication type:
    Article

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

    Published in:
    Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
    By:
    • Alshenaifi, Jumanah;
    • Ewida, Nour;
    • Anazi, Shams;
    • Shamseldin, Hanan E.;
    • Patel, Nisha;
    • Maddirevula, Sateesh;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Jacob, Minnie;
    • Alhashem, Amal;
    • Alzaidan, Hamad I.;
    • Seidahmed, Mohammed Z.;
    • Alhashemi, Nadia;
    • Rawashdeh, Rifaat;
    • Eyaid, Wafaa;
    • Al‐Hassnan, Zuhair N.
    Publication type:
    Article

  • Warsaw breakage syndrome: Further clinical and genetic delineation.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482
    By:
    • Alkhunaizi, Ebba;
    • Shaheen, Ranad;
    • Bharti, Sanjay Kumar;
    • Joseph‐George, Ann M.;
    • Chong, Karen;
    • Abdel‐Salam, Ghada M. H.;
    • Alowain, Mohammed;
    • Blaser, Susan I.;
    • Papsin, Blake C.;
    • Butt, Mohammed;
    • Hashem, Mais;
    • Martin, Nicole;
    • Godoy, Ruth;
    • Brosh, Robert M.;
    • Alkuraya, Fowzan S.;
    • Chitayat, David
    Publication type:
    Article

  • Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

    Published in:
    2018
    By:
    • Nahorski, Michael S.;
    • Maddirevula, Sateesh;
    • Ryosuke Ishimura;
    • Alsahli, Saud;
    • Brady, Angela F.;
    • Begemann, Anaïs;
    • Tsunehiro Mizushima;
    • Guzmán-Vega, Francisco J.;
    • Miki Obata;
    • Yoshinobu Ichimura;
    • Alsaif, Hessa S.;
    • Anazi, Shams;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Monies, Dorota;
    • Abouelhoda, Mohamed;
    • Meyer, Brian F.;
    • Alfadhel, Majid;
    • Eyaid, Wafa
    Publication type:
    journal article

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

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
    By:
    • Alrakaf, Laila;
    • Al‐Owain, Mohammed A.;
    • Busehail, Maryam;
    • Alotaibi, Maha A.;
    • Monies, Dorota;
    • Aldhalaan, Hesham M.;
    • Alhashem, Amal;
    • Al‐Hassnan, Zuhair N.;
    • Rahbeeni, Zuhair A.;
    • Murshedi, Fathiya Al;
    • Ani, Nadia Al;
    • Al‐Maawali, Almundher;
    • Ibrahim, Niema A.;
    • Abdulwahab, Firdous M.;
    • Alsagob, Maysoon;
    • Hashem, Mais O.;
    • Ramadan, Wafaa;
    • Abouelhoda, Mohamed;
    • Meyer, Brian F.;
    • Kaya, Namik
    Publication type:
    Article

  • Correction to: Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    2018
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine T.;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan E.;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Correction Notice

  • Molecular and clinical spectra of FBXL4 deficiency.

    Published in:
    Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
    By:
    • El-Hattab, Ayman W.;
    • Dai, Hongzheng;
    • Almannai, Mohammed;
    • Wang, Julia;
    • Faqeih, Eissa A.;
    • Al Asmari, Ali;
    • Saleh, Mohammed A. M.;
    • Elamin, Mohammed A. O.;
    • Alfadhel, Majid;
    • Alkuraya, Fowzan S.;
    • Hashem, Mais;
    • Aldosary, Mazhor S.;
    • Almass, Rawan;
    • Almutairi, Faten B.;
    • Alsagob, Maysoon;
    • Al-Owain, Mohammed;
    • Al-Sharfa, Shirin;
    • Al-Hassnan, Zuhair N.;
    • Rahbeeni, Zuhair;
    • Al-Muhaizea, Mohammed A.
    Publication type:
    Article

  • A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

    Published in:
    2017
    By:
    • Shamseldin, Hanan E.;
    • Alasmari, Ali;
    • Salih, Mohammed A.;
    • Samman, Manar M.;
    • Mian, Shahid A.;
    • Alshidi, Tarfa;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Faqeih, Eissa;
    • Al-Mohanna, Futwan;
    • Alkuraay, Fowzan S.;
    • Alkuraya, Fowzan S
    Publication type:
    journal article

  • Expanding the genetic heterogeneity of intellectual disability.

    Published in:
    Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
    By:
    • Anazi, Shams;
    • Maddirevula, Sateesh;
    • Salpietro, Vincenzo;
    • Asi, Yasmine;
    • Alsahli, Saud;
    • Alhashem, Amal;
    • Shamseldin, Hanan;
    • AlZahrani, Fatema;
    • Patel, Nisha;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alhashmi, Nadia;
    • Al Murshedi, Fathiya;
    • Al Kindy, Adila;
    • Alshaer, Ahmad;
    • Rumayyan, Ahmed;
    • Al Tala, Saeed;
    • Kurdi, Wesam;
    • Alsaman, Abdulaziz
    Publication type:
    Article

  • Mutations of PTPN23 in developmental and epileptic encephalopathy.

    Published in:
    Human Genetics, 2017, v. 136, n. 11/12, p. 1455, doi. 10.1007/s00439-017-1850-3
    By:
    • Sowada, Nadine;
    • Hashem, Mais;
    • Yilmaz, Rüstem;
    • Hamad, Muddathir;
    • Kakar, Naseebullah;
    • Thiele, Holger;
    • Arold, Stefan;
    • Bode, Harald;
    • Alkuraya, Fowzan;
    • Borck, Guntram
    Publication type:
    Article

  • A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
    By:
    • Patel, Nisha;
    • Khan, Arif O.;
    • Al-Saif, Maher;
    • Moghrabi, Walid N.;
    • AlMaarik, Balsam M.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alshidi, Tarfa;
    • Alobeid, Eman;
    • Alomar, Rana A.;
    • Al-Harbi, Saad;
    • Abouelhoda, Mohamed;
    • Khabar, Khalid S. A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • The genetic landscape of familial congenital hydrocephalus.

    Published in:
    2017
    By:
    • Shaheen, Ranad;
    • Sebai, Mohammed Adeeb;
    • Patel, Nisha;
    • Ewida, Nour;
    • Kurdi, Wesam;
    • Altweijri, Ikhlass;
    • Sogaty, Sameera;
    • Almardawi, Elham;
    • Seidahmed, Mohammed Zain;
    • Alnemri, Abdulrahman;
    • Madirevula, Sateesh;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Sallout, Bahauddin;
    • AlBaqawi, Badi;
    • AlAali, Wajeih
    Publication type:
    journal article

  • Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
    By:
    • Patel, Nisha;
    • Anand, Deepti;
    • Monies, Dorota;
    • Maddirevula, Sateesh;
    • Khan, Arif;
    • Algoufi, Talal;
    • Alowain, Mohammed;
    • Faqeih, Eissa;
    • Alshammari, Muneera;
    • Qudair, Ahmed;
    • Alsharif, Hadeel;
    • Aljubran, Fatimah;
    • Alsaif, Hessa;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alsedairy, Haifa;
    • Aldahmesh, Mohammed;
    • Lachke, Salil;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • Characterizing the morbid genome of ciliopathies.

    Published in:
    Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
    By:
    • Shaheen, Ranad;
    • Katarzyna Szymanska;
    • Basu, Basudha;
    • Patel, Nisha;
    • Ewida, Nour;
    • Faqeih, Eissa;
    • Hashem, Amal Al;
    • Derar, Nada;
    • Alsharif, Hadeel;
    • Aldahmesh, Mohammed A.;
    • Alazami, Anas M.;
    • Hashem, Mais;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous M.;
    • Sonbul, Rawda;
    • Hisham Alkuraya;
    • Alnemer, Maha;
    • Tala, Saeed Al;
    • Al-Husain, Muneera;
    • Morsy, Heba
    Publication type:
    Article

  • A lethal phenotype associated with tissue plasminogen deficiency in humans.

    Published in:
    Human Genetics, 2016, v. 135, n. 10, p. 1209, doi. 10.1007/s00439-016-1711-5
    By:
    • Shamseldin, Hanan;
    • Aldeeri, Abdulrahman;
    • Babay, Zainab;
    • Alsultan, Abdulrahman;
    • Hashem, Mais;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 14, p. 3042, doi. 10.1093/hmg/ddw157
    By:
    • Palmer, Elizabeth E.;
    • Jarrett, Kelsey E.;
    • Sachdev, Rani K.;
    • Al Zahrani, Fatema;
    • Hashem, Mais Omar;
    • Ibrahim, Niema;
    • Sampaio, Hugo;
    • Kandula, Tejaswi;
    • Macintosh, Rebecca;
    • Gupta, Rajat;
    • Conlon, Donna M.;
    • Billheimer, Jeffrey T.;
    • Rader, Daniel J.;
    • Kouichi Funato;
    • Walkey, Christopher J.;
    • Chang Seok Lee;
    • Loo, Christine;
    • Brammah, Susan;
    • Elakis, George;
    • Ying Zhu
    Publication type:
    Article

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

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
    By:
    • El‐Hattab, Ayman W.;
    • Saleh, Mohammed A.;
    • Hashem, Amal;
    • Al‐Owain, Mohammed;
    • Asmari, Ali Al;
    • Rabei, Hala;
    • Abdelraouf, Hanem;
    • Hashem, Mais;
    • Alazami, Anas M.;
    • Patel, Nisha;
    • Shaheen, Ranad;
    • Faqeih, Eissa A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Novel copy number variants and major limb reduction malformation: Report of three cases.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
    By:
    • Shamseldin, Hanan E.;
    • Anazi, Shams;
    • Wakil, Salma M.;
    • Faqeih, Eissa;
    • El Khashab, Heba Y.;
    • Salih, Mustafa A.;
    • Al‐Qattan, Mohammad M.;
    • Hashem, Mais;
    • Alsedairy, Haifa;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

    Published in:
    Human Genetics, 2016, v. 135, n. 5, p. 525, doi. 10.1007/s00439-016-1660-z
    By:
    • Alazami, Anas;
    • Al-Qattan, Sarah;
    • Faqeih, Eissa;
    • Alhashem, Amal;
    • Alshammari, Muneera;
    • Alzahrani, Fatema;
    • Al-Dosari, Mohammed;
    • Patel, Nisha;
    • Alsagheir, Afaf;
    • Binabbas, Bassam;
    • Alzaidan, Hamad;
    • Alsiddiky, Abdulmonem;
    • Alharbi, Nasser;
    • Alfadhel, Majid;
    • Kentab, Amal;
    • Daza, Riza;
    • Kircher, Martin;
    • Shendure, Jay;
    • Hashem, Mais;
    • Alshahrani, Saif
    Publication type:
    Article

  • Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

    Published in:
    2016
    By:
    • Picker-Minh, Sylvie;
    • Mignot, Cyril;
    • Doummar, Diane;
    • Hashem, Mais;
    • Faqeih, Eissa;
    • Josset, Patrice;
    • Dubern, Béatrice;
    • Alkuraya, Fowzan S.;
    • Kraemer, Nadine;
    • Kaindl, Angela M.
    Publication type:
    letter

  • Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

    Published in:
    Human Genetics, 2016, v. 135, n. 2, p. 193, doi. 10.1007/s00439-015-1624-8
    By:
    • Shtir, Corina;
    • Aldahmesh, Mohammed;
    • Al-Dahmash, Saad;
    • Abboud, Emad;
    • Alkuraya, Hisham;
    • Abouammoh, Marwan A.;
    • Nowailaty, Sawsan R.;
    • Al-Thubaiti, Ghazai;
    • Naim, E.;
    • ALYounes, B.;
    • Binhumaid, F.;
    • ALOtaibi, A.;
    • Altamimi, A.;
    • Alamer, F.;
    • Hashem, Mais;
    • Abouelhoda, Mohamed;
    • Monies, Dorota;
    • Alkuraya, Fowzan
    Publication type:
    Article

  • A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.

    Published in:
    2015
    By:
    • Çatlı, Gönül;
    • Abacı, Ayhan;
    • Anık, Ahmet;
    • Shaneen, Ranad;
    • Tuhan, Hale Ünver;
    • Erçal, Derya;
    • Böber, Ece;
    • Ibrahim, Niema A.;
    • Hashem, Mais O.;
    • Alkuraya, Fowzan Sami
    Publication type:
    Abstract

  • Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

    Published in:
    Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0681-6
    By:
    • Shamseldin, Hanan E.;
    • Tulbah, Maha;
    • Kurdi, Wesam;
    • Nemer, Maha;
    • Alsahan, Nada;
    • Mardawi, Elham Al;
    • Khalifa, Ola;
    • Hashem, Amal;
    • Kurdi, Ahmed;
    • Babay, Zainab;
    • Bubshait, Dalal K.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Rahbeeni, Zuhair;
    • Hashem, Mais;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 80
    By:
    • Çatlı, Gönül;
    • Abacı, Ayhan;
    • Anık, Ahmet;
    • Shaneen, Ranad;
    • Tuhan, Hale Ünver;
    • Erçal, Derya;
    • Böber, Ece;
    • Ibrahim, Niema A.;
    • Hashem, Mais O.;
    • Alkuraya, Fowzan Sami
    Publication type:
    Article

  • IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044
    By:
    • Aldahmesh, Mohammed A.;
    • Li, Yuanyuan;
    • Alhashem, Amal;
    • Anazi, Shams;
    • Alkuraya, Hisham;
    • Hashem, Mais;
    • Awaji, Ali A.;
    • Sogaty, Sameera;
    • Alkharashi, Abdullah;
    • Alzahrani, Saeed;
    • Al Hazzaa, Selwa A.;
    • Xiong, Yong;
    • Kong, Shanshan;
    • Sun, Zhaoxia;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • In search of triallelism in Bardet-Biedl syndrome.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
    By:
    • Abu-Safieh, Leen;
    • Al-Anazi, Shamsa;
    • Al-Abdi, Lama;
    • Hashem, Mais;
    • Alkuraya, Hisham;
    • Alamr, Mushari;
    • Sirelkhatim, Mugtaba O;
    • Al-Hassnan, Zuhair;
    • Alkuraya, Basim;
    • Mohamed, Jawahir Y;
    • Al-Salem, Ahmad;
    • Alrashed, May;
    • Faqeih, Eissa;
    • Softah, Ameen;
    • Al-Hashem, Amal;
    • Wali, Sami;
    • Rahbeeni, Zuhair;
    • Alsayed, Moeen;
    • Khan, Arif O;
    • Al-Gazali, Lihadh
    Publication type:
    Article