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Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
Published in:
Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
By:
- Magrinelli, Francesca;
- Cali, Elisa;
- Braga, Vinícius Lopes;
- Yis, Uluç;
- Tomoum, Hoda;
- Shamseldin, Hanan;
- Raiman, Julian;
- Kernstock, Christoph;
- Rezende Filho, Flávio Moura;
- Barsottini, Orlando Graziani Povoas;
- Taylor, Robert W.;
- Østergaard, Elsebet;
- Tamim, Abdullah;
- Schäferhoff, Karin;
- Sallum, Juliana Maria Ferraz;
- Zaki, Maha S.;
- Kok, Fernando;
- Bhatia, Kailash P.;
- Wissinger, Bernd;
- Sergeant, Kate
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
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
By:
- Fasham, James;
- Huebner, Antje K;
- Liebmann, Lutz;
- Khalaf-Nazzal, Reham;
- Maroofian, Reza;
- Kryeziu, Nderim;
- Wortmann, Saskia B;
- Leslie, Joseph S;
- Ubeyratna, Nishanka;
- Mancini, Grazia M S;
- Slegtenhorst, Marjon van;
- Wilke, Martina;
- Haack, Tobias B;
- Shamseldin, Hanan E;
- Gleeson, Joseph G;
- Almuhaizea, Mohamed;
- Dweikat, Imad;
- Abu-Libdeh, Bassam;
- Daana, Muhannad;
- Zaki, Maha S
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
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Published in:
Human Genetics, 2024, v. 143, n. 1, p. 59, doi. 10.1007/s00439-023-02621-6
By:
- Alshammari, Muneera J.;
- Shamseldin, Hanan E.;
- Essbaiheen, Fahad;
- Eltahir, Sara H.;
- Alruwaili, Ashwag R.;
- Abdulwahab, Firdous;
- Alkuraya, Fowzan S.
Publication type:
Article
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
By:
- Shamseldin, Hanan E.;
- Sadagopan, Mukunth;
- Martini, Javier;
- Al-Ali, Ruslan;
- Radefeldt, Mandy;
- Ataei, Mojgan;
- Lemke, Sabrina;
- Rahbeeni, Zuhair;
- Al Mutairi, Fuad;
- Ababneh, Faroug;
- AlRukban, Hadeel A.;
- Abdulwahab, Firdous;
- Alhajj, Saleh Mohammed;
- Bauer, Peter;
- Bertoli-Avella, Aida;
- Alkuraya, Fowzan S.
Publication type:
Article
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
By:
- Shamseldin, Hanan E.;
- Derar, Nada;
- Alzaidan, Hamad;
- AlHathal, Naif;
- Alfalah, Abdullah;
- Abdulwahab, Firdous;
- Alzaid, Tariq;
- Alkeraye, Salim;
- Alobaida, Saud A.;
- Alkuraya, Fowzan S.
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
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
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
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
Joint Laxity in Homozygotes for Severe POU1F1 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3356, doi. 10.1002/ajmg.a.37941
By:
- Shamseldin, Hanan E.;
- Maddirevula, Sateesh;
- Nabil, Amira;
- Al‐Fadhil, Saeed;
- Al Tala, Saeed;
- 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
Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35956
By:
- Al‐Qattan, Mohammad M.;
- Shamseldin, Hanan E.;
- Al Mazyad, Mohammed;
- Al Deghaither, Saud;
- Alkuraya, Fowzan S.
Publication type:
Article
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Published in:
Nature Genetics, 2014, v. 46, n. 6, p. 646, doi. 10.1038/ng.2961
By:
- Wallmeier, Julia;
- Al-Mutairi, Dalal A;
- Chen, Chun-Ting;
- Loges, Niki Tomas;
- Pennekamp, Petra;
- Menchen, Tabea;
- Ma, Lina;
- Shamseldin, Hanan E;
- Olbrich, Heike;
- Dougherty, Gerard W;
- Werner, Claudius;
- Alsabah, Basel H;
- Köhler, Gabriele;
- Jaspers, Martine;
- Boon, Mieke;
- Griese, Matthias;
- Schmitt-Grohé, Sabina;
- Zimmermann, Theodor;
- Koerner-Rettberg, Cordula;
- Horak, Elisabeth
Publication type:
Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 3, p. 197, doi. 10.1038/ng.757
By:
- Rooryck, Caroline;
- Diaz-Font, Anna;
- Osborn, Daniel P. S.;
- Chabchoub, Elyes;
- Hernandez-Hernandez, Victor;
- Shamseldin, Hanan;
- Kenny, Joanna;
- Waters, Aoife;
- Jenkins, Dagan;
- Kaissi, Ali Al;
- Leal, Gabriela F.;
- Dallapiccola, Bruno;
- Carnevale, Franco;
- Bitner-Glindzicz, Maria;
- Lees, Melissa;
- Hennekam, Raoul;
- Stanier, Philip;
- Burns, Alan J.;
- Peeters, Hilde;
- Alkuraya, Fowzan S.
Publication type:
Article
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46354-0
By:
- Chelban, Viorica;
- Aksnes, Henriette;
- Maroofian, Reza;
- LaMonica, Lauren C.;
- Seabra, Luis;
- Siggervåg, Anette;
- Devic, Perrine;
- Shamseldin, Hanan E.;
- Vandrovcova, Jana;
- Murphy, David;
- Richard, Anne-Claire;
- Quenez, Olivier;
- Bonnevalle, Antoine;
- Zanetti, M. Natalia;
- Kaiyrzhanov, Rauan;
- Salpietro, Vincenzo;
- Efthymiou, Stephanie;
- Schottlaender, Lucia V.;
- Morsy, Heba;
- Scardamaglia, Annarita
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
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
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
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
Published in:
Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
By:
- Shamseldin, Hanan E.;
- Makhseed, Nawal;
- Ibrahim, Niema;
- Al-Sheddi, Tarfa;
- Alobeid, Eman;
- Abdulwahab, Firdous;
- Alkuraya, Fowzan S.
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
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
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Published in:
Human Genetics, 2017, v. 136, n. 1, p. 99, doi. 10.1007/s00439-016-1741-z
By:
- Shamseldin, Hanan;
- Khalifa, Ola;
- Binamer, Yousef;
- Almutawa, Abdulmonem;
- Arold, Stefan;
- Zaidan, Hamad;
- Alkuraya, Fowzan
Publication type:
Article
ANKS3 is mutated in a family with autosomal recessive laterality defect.
Published in:
Human Genetics, 2016, v. 135, n. 11, p. 1233, doi. 10.1007/s00439-016-1712-4
By:
- Shamseldin, Hanan;
- Yakulov, Toma;
- Hashem, Amal;
- Walz, Gerd;
- Alkuraya, Fowzan
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
A null mutation in TNIK defines a novel locus for intellectual disability.
Published in:
Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9
By:
- Anazi, Shams;
- Shamseldin, Hanan;
- AlNaqeb, Dhekra;
- Abouelhoda, Mohamed;
- Monies, Dorota;
- Salih, Mustafa;
- Al-Rubeaan, Khalid;
- Alkuraya, Fowzan
Publication type:
Article
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
Published in:
Human Genetics, 2016, v. 135, n. 2, p. 245, doi. 10.1007/s00439-015-1632-8
By:
- Shamseldin, Hanan;
- Bennett, Alexis;
- Alfadhel, Majid;
- Gupta, Vandana;
- Alkuraya, Fowzan
Publication type:
Article
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
Published in:
Human Genetics, 2016, v. 135, n. 1, p. 21, doi. 10.1007/s00439-015-1608-8
By:
- Shamseldin, Hanan;
- Smith, Laura;
- Kentab, Amal;
- Alkhalidi, Hisham;
- Summers, Brady;
- Alsedairy, Haifa;
- Xiong, Yong;
- Gupta, Vandana;
- Alkuraya, Fowzan
Publication type:
Article
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
Published in:
British Journal of Dermatology, 2023, v. 189, n. 1, p. 131, doi. 10.1093/bjd/ljad075
By:
- Ziegler, Alban;
- Ebstein, Frédéric;
- Shamseldin, Hanan;
- Prouteau, Clément;
- Krüger, Elke;
- Binamer, Yousef M;
- Bonneau, Dominique;
- Alkuraya, Fowzan S;
- Martin, Ludovic
Publication type:
Article
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
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
Molecular autopsy by proxy in preconception counseling.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
By:
- Ali Alghamdi, Malak;
- Alrasheedi, Ameinah;
- Alghamdi, Esra;
- Adly, Nouran;
- AlAali, Wajeih Y.;
- Alhashem, Amal;
- Alshahrani, Abdulaziz;
- Shamseldin, Hanan;
- Alkuraya, Fowzan S.;
- Alfadhel, Majid
Publication type:
Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
By:
- Patel, Nisha;
- Alkeraye, Salim;
- Alobeid, Eman;
- Alshidi, Tarfa;
- Helaby, Rana;
- Abdulwahab, Firdous;
- Shamseldin, Hanan E.;
- Alkuraya, Fowzan S.
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
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1392444
By:
- Baz, Danya Salah;
- Baz, Dareen;
- Alrwuili, Fawzah;
- Aldowaish, Abdullah;
- Shamseldin, Hanan E.;
- Elhomoudi, Ayman;
- Alkuraya, Fowzan S.
Publication type:
Article
GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1061-6
By:
- Shamseldin, Hanan E.;
- Masuho, Ikuo;
- Alenizi, Ahmed;
- Alyamani, Suad;
- Patil, Dipak N.;
- Ibrahim, Niema;
- Martemyanov, Kirill A.;
- Alkuraya, Fowzan S.
Publication type:
Article
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 2, p. 196, doi. 10.1002/pd.6425
By:
- Brar, Bobby K.;
- Blakemore, Karin;
- Hertenstein, Christine;
- Miller, Jena L.;
- Miller, Kristen A.;
- Shamseldin, Hanan;
- Maddirevula, Sateesh;
- Hays, Thomas;
- Lianoglou, Billie;
- Dukhovny, Stephanie;
- Baker, Linda A.;
- Sparks, Teresa N.;
- Wapner, Ronald;
- Alkuraya, Fowzan S.;
- Norton, Mary E.;
- Jelin, Angie C.
Publication type:
Article
Autozygosity Mapping with Exome Sequence Data.
Published in:
Human Mutation, 2013, v. 34, n. 1, p. 50, doi. 10.1002/humu.22220
By:
- Carr, Ian M.;
- Bhaskar, Sanjeev;
- O’ Sullivan, James;
- Aldahmesh, Mohammed A.;
- Shamseldin, Hanan E.;
- Markham, Alexander F.;
- Bonthron, David T.;
- Black, Graeme;
- 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

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