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Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.2478
By:
- Yousaf, Ayesha;
- Yousaf, Sairah;
- Shabbir, Asra S.;
- Yousaf, Rafia;
- Riazuddin, Saima;
- Shaikh, Rehan S.;
- Santos‐Cortez, Regie Lyn P.;
- Ahmed, Zubair M.
Publication type:
Article
The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.
Published in:
Frontiers in Cellular & Infection Microbiology, 2022, v. 11, p. 1, doi. 10.3389/fcimb.2021.798246
By:
- Elling, Christina L.;
- Scholes, Melissa A.;
- Streubel, Sven-Olrik;
- Larson, Eric D.;
- Wine, Todd M.;
- Bootpetch, Tori C.;
- Yoon, Patricia J.;
- Kofonow, Jennifer M.;
- Gubbels, Samuel P.;
- Cass, Stephen P.;
- Robertson, Charles E.;
- Jenkins, Herman A.;
- Prager, Jeremy D.;
- Frank, Daniel N.;
- Chan, Kenny H.;
- Friedman, Norman R.;
- Ryan, Allen F.;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Published in:
Journal of Human Genetics, 2011, v. 56, n. 12, p. 866, doi. 10.1038/jhg.2011.110
By:
- Ansar, Muhammad;
- Lee, Kwanghyuk;
- Naqvi, Syed Kamran-ul-Hassan;
- Andrade, Paula B;
- Basit, Sulman;
- Santos-Cortez, Regie Lyn P;
- Ahmad, Wasim;
- Leal, Suzanne M
Publication type:
Article
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 315, doi. 10.1002/ajmg.a.34407
By:
- Lee, Kwanghyuk;
- Ansar, Muhammad;
- Andrade, Paula B.;
- Khan, Bushra;
- Santos-Cortez, Regie Lyn P.;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Rare A2ML1 variants confer susceptibility to otitis media.
Published in:
Nature Genetics, 2015, v. 47, n. 8, p. 917, doi. 10.1038/ng.3347
By:
- Santos-Cortez, Regie Lyn P;
- Wang, Xin;
- Acharya, Anushree;
- Abbe, Izoduwa;
- Li, Biao;
- Wang, Gao T;
- Leal, Suzanne M;
- Patel, Janak A;
- Chonmaitree, Tasnee;
- Sale, Michele M;
- Chiong, Charlotte M;
- Reyes-Quintos, Ma Rina T;
- Llanes, Erasmo Gonzalo D V;
- Gloria-Cruz, Teresa Luisa I;
- Chan, Abner L;
- Abes, Generoso T;
- Tantoco, Ma Leah C;
- Giese, Arnaud P;
- Riazuddin, Saima;
- Ahmed, Zubair M
Publication type:
Article
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
By:
- Boileau, Catherine;
- Guo, Dong-Chuan;
- Hanna, Nadine;
- Regalado, Ellen S;
- Detaint, Delphine;
- Gong, Limin;
- Varret, Mathilde;
- Prakash, Siddharth K;
- Li, Alexander H;
- d'Indy, Hyacintha;
- Braverman, Alan C;
- Grandchamp, Bernard;
- Kwartler, Callie S;
- Gouya, Laurent;
- Santos-Cortez, Regie Lyn P;
- Abifadel, Marianne;
- Leal, Suzanne M;
- Muti, Christine;
- Shendure, Jay;
- Gross, Marie-Sylvie
Publication type:
Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
By:
- Shah, Khadim;
- Hussain Ali, Raja;
- Ansar, Muhammad;
- Lee, Kwanghyuk;
- Salman Chishti, Muhammad;
- Abbe, Izoduwa;
- Biao Li;
- Smith, Joshua D.;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Coucke, Paul J.;
- Steyaert, Wouter;
- Bamshad, Michael J.;
- Santos-Cortez, Regie Lyn P.;
- Leal, Suzanne M.;
- Ahmad, Wasim
Publication type:
Article
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Published in:
Human Genetics, 2019, v. 138, n. 6, p. 593, doi. 10.1007/s00439-019-02000-0
By:
- Ullah, Irfan;
- Kakar, Naseebullah;
- Schrauwen, Isabelle;
- Hussain, Shabir;
- Chakchouk, Imen;
- Liaqat, Khurram;
- Acharya, Anushree;
- Wasif, Naveed;
- Santos-Cortez, Regie Lyn P.;
- Khan, Saadullah;
- Aziz, Abdul;
- Lee, Kwanghyuk;
- Couthouis, Julien;
- Horn, Denise;
- Kragesteen, Bjørt K.;
- Spielmann, Malte;
- Thiele, Holger;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Gitler, Aaron D.
Publication type:
Article
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Published in:
Human Genetics, 2018, v. 137, n. 9, p. 735, doi. 10.1007/s00439-018-1928-6
By:
- Santos-Cortez, Regie Lyn P.;
- Khan, Valeed;
- Khan, Falak Sher;
- Mughal, Zaib-un-Nisa;
- Chakchouk, Imen;
- Lee, Kwanghyuk;
- Rasheed, Memoona;
- Hamza, Rifat;
- Acharya, Anushree;
- Ullah, Ehsan;
- Saqib, Muhammad Arif Nadeem;
- Abbe, Izoduwa;
- Ali, Ghazanfar;
- Hassan, Muhammad Jawad;
- Khan, Saadullah;
- Azeem, Zahid;
- Ullah, Irfan;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Schrauwen, Isabelle
Publication type:
Article
DFNB89 , a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Published in:
Human Genetics, 2011, v. 129, n. 4, p. 379, doi. 10.1007/s00439-010-0934-0
By:
- Basit, Sulman;
- Kwanghyuk Lee;
- Habib, Rabia;
- Leon Chen;
- Umm-e-Kalsoom;
- Santos-Cortez, Regie Lyn P.;
- Azeem, Zahid;
- Andrade, Paula;
- Ansar, Muhammad;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Published in:
International Journal of Dermatology, 2016, v. 55, n. 5, p. 524, doi. 10.1111/ijd.12950
By:
- Ullah, Rahim;
- Ansar, Muhammad;
- Durrani, Zaka Ullah;
- Lee, Kwanghyuk;
- Santos‐Cortez, Regie Lyn P.;
- Muhammad, Dost;
- Ali, Mahboob;
- Zia, Muhammad;
- Ayub, Muhammad;
- Khan, Suliman;
- Smith, Josh D.;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Bamshad, Michael;
- Leal, Suzanne M.;
- Ahmad, Wasim
Publication type:
Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
By:
- Rehman, Atteeq U;
- Santos-Cortez, Regie Lyn P;
- Drummond, Meghan C;
- Shahzad, Mohsin;
- Lee, Kwanghyuk;
- Morell, Robert J;
- Ansar, Muhammad;
- Jan, Abid;
- Wang, Xin;
- Aziz, Abdul;
- Riazuddin, Saima;
- Smith, Joshua D;
- Wang, Gao T;
- Ahmed, Zubair M;
- Gul, Khitab;
- Shearer, A Eliot;
- Smith, Richard J H;
- Shendure, Jay;
- Bamshad, Michael J;
- Nickerson, Deborah A
Publication type:
Article
Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.
Published in:
Frontiers in Genetics, 2020, v. 10, p. 1, doi. 10.3389/fgene.2019.01352
By:
- Baschal, Erin E.;
- Larson, Eric D.;
- Bootpetch Roberts, Tori C.;
- Pathak, Shivani;
- Frank, Gretchen;
- Handley, Elyse;
- Dinwiddie, Jordyn;
- Moloney, Molly;
- Yoon, Patricia J.;
- Gubbels, Samuel P.;
- Scholes, Melissa A.;
- Cass, Stephen P.;
- Jenkins, Herman A.;
- Frank, Daniel N.;
- Yang, Ivana V.;
- Schwartz, David A.;
- Ramakrishnan, Vijay R.;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.
Published in:
Infectious Diseases of Poverty, 2016, v. 5, p. 1, doi. 10.1186/s40249-016-0189-7
By:
- Santos-Cortez, Regie Lyn P.;
- Hutchinson, Diane S.;
- Ajami, Nadim J.;
- Reyes-Quintos, Maria Rina T.;
- Tantoco, Maria Leah C.;
- Labra, Patrick John;
- Lagrana, Sheryl Mae;
- Pedro, Melquiadesa;
- Llanes, Erasmo Gonzalo d. V.;
- Gloria-Cruz, Teresa Luisa;
- Chan, Abner L.;
- la Paz, Eva Maria Cutiongco-de;
- Belmont, John W.;
- Chonmaitree, Tasnee;
- Abes, Generoso T.;
- Petrosino, Joseph F.;
- Leal, Suzanne M.;
- Chiong, Charlotte M.
Publication type:
Article
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 634, doi. 10.1111/cge.13515
By:
- Truong, Brittany T.;
- Yarza, Talitha K.L.;
- Bootpetch Roberts, Tori;
- Roberts, Susannah;
- Xu, Jonathan;
- Steritz, Matthew J.;
- Tobias‐Grasso, Celina A.M.;
- Azamian, Mahshid;
- Lalani, Seema R.;
- Mohlke, Karen L.;
- Lee, Nanette R.;
- Cutiongco‐de la Paz, Eva Maria;
- Reyes‐Quintos, Maria Rina T.;
- Santos‐Cortez, Regie Lyn P.;
- Chiong, Charlotte M.
Publication type:
Article
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289
By:
- Santos-Cortez, Regie Lyn P.;
- Lee, Kwanghyuk;
- Giese, Arnaud P.;
- Ansar, Muhammad;
- Amin-Ud-Din, Muhammad;
- Rehn, Kira;
- Wang, Xin;
- Aziz, Abdul;
- Chiu, Ilene;
- Hussain Ali, Raja;
- Smith, Joshua D.;
- Shendure, Jay;
- Bamshad, Michael;
- Nickerson, Deborah A.;
- Ahmed, Zubair M.;
- Ahmad, Wasim;
- Riazuddin, Saima;
- Leal, Suzanne M.
Publication type:
Article
Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.
Published in:
Biomedicines, 2024, v. 13, n. 7, p. 1427, doi. 10.3390/biomedicines12071427
By:
- Lee, Nam K.;
- Uhler, Kristin M.;
- Yoon, Patricia J.;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
Editorial: Otitis Media Genomics and the Middle Ear Microbiome.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.763688
By:
- Santos-Cortez, Regie Lyn P.;
- Ehrlich, Garth D.;
- Ryan, Allen F.
Publication type:
Article
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.
Published in:
Genetics Research International, 2011, p. 1, doi. 10.4061/2011/368915
By:
- Lee, Kwanghyuk;
- Khan, Saadullah;
- Ansar, Muhammad;
- Santos-Cortez, Regie Lyn P.;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.
Published in:
Genetics Research International, 2011, p. 1, doi. 10.4061/2011/294675
By:
- Lee, Kwanghyuk;
- Din, Mohammad Amin ud;
- Ansar, Muhammad;
- Santos-Cortez, Regie Lyn P.;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Published in:
Human Mutation, 2019, v. 40, n. 1, p. 53, doi. 10.1002/humu.23666
By:
- Richard, Elodie M.;
- Santos‐Cortez, Regie Lyn P.;
- Faridi, Rabia;
- Rehman, Atteeq U.;
- Lee, Kwanghyuk;
- Shahzad, Mohsin;
- Acharya, Anushree;
- Khan, Asma A.;
- Imtiaz, Ayesha;
- Chakchouk, Imen;
- Takla, Christina;
- Abbe, Izoduwa;
- Rafeeq, Maria;
- Liaqat, Khurram;
- Chaudhry, Taimur;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Schrauwen, Isabelle;
- Khan, Shaheen N.;
- Morell, Robert J.
Publication type:
Article
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Published in:
Human Mutation, 2016, v. 37, n. 10, p. 991, doi. 10.1002/humu.23042
By:
- Rehman, Atteeq U.;
- Bird, Jonathan E.;
- Faridi, Rabia;
- Shahzad, Mohsin;
- Shah, Sujay;
- Lee, Kwanghyuk;
- Khan, Shaheen N.;
- Imtiaz, Ayesha;
- Ahmed, Zubair M.;
- Riazuddin, Saima;
- Santos‐Cortez, Regie Lyn P.;
- Ahmad, Wasim;
- Leal, Suzanne M.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article
Editorial: Otitis media susceptibility due to genetic variants.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1341669
By:
- Marom, Tal;
- Swords, W. Edward;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
Novel candidate genes for cholesteatoma in chronic otitis media.
Published in:
Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1033965
By:
- Lee, Nam K.;
- Cass, Stephen P.;
- Gubbels, Samuel P.;
- Gomez, Helen Z.;
- Scholes, Melissa A.;
- Jenkins, Herman A.;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.
Published in:
Genes, 2023, v. 14, n. 4, p. 831, doi. 10.3390/genes14040831
By:
- Sumalde, Angelo Augusto M.;
- Scholes, Melissa A.;
- Kalmanson, Olivia A.;
- Terhune, Elizabeth A.;
- Frejo, Lidia;
- Wethey, Cambria I.;
- Roman-Naranjo, Pablo;
- Carry, Patrick M.;
- Gubbels, Samuel P.;
- Lopez-Escamez, Jose A.;
- Hadley-Miller, Nancy;
- Santos-Cortez, Regie Lyn P.
Publication type:
Article
Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.
Published in:
Genes, 2021, v. 12, n. 4, p. 566, doi. 10.3390/genes12040566
By:
- Santos-Cortez, Regie Lyn P.;
- Yarza, Talitha Karisse L.;
- Bootpetch, Tori C.;
- Tantoco, Ma. Leah C.;
- Mohlke, Karen L.;
- Cruz, Teresa Luisa G.;
- Chiong Perez, Mary Ellen;
- Chan, Abner L.;
- Lee, Nanette R.;
- Tobias-Grasso, Celina Ann M.;
- Reyes-Quintos, Maria Rina T.;
- Cutiongco-de la Paz, Eva Maria;
- Chiong, Charlotte M.
Publication type:
Article
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
Published in:
Journal of Bone & Mineral Research, 2019, v. 34, n. 2, p. 375, doi. 10.1002/jbmr.3594
By:
- Schrauwen, Isabelle;
- Giese, Arnaud PJ;
- Aziz, Abdul;
- Lafont, David Tino;
- Chakchouk, Imen;
- Santos‐Cortez, Regie Lyn P;
- Lee, Kwanghyuk;
- Acharya, Anushree;
- Khan, Falak Sher;
- Ullah, Asmat;
- Nickerson, Deborah A;
- Bamshad, Michael J;
- Ali, Ghazanfar;
- Riazuddin, Saima;
- Ansar, Muhammad;
- Ahmad, Wasim;
- Ahmed, Zubair M;
- Leal, Suzanne M
Publication type:
Article
Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3.
Published in:
Human Heredity, 2011, v. 71, n. 2, p. 106, doi. 10.1159/000320154
By:
- Ali, Ghazanfar;
- Lee, Kwanghyuk;
- Andrade, Paula B.;
- Basit, Sulman;
- Santos-Cortez, Regie Lyn P.;
- Chen, Leon;
- Jelani, Musharraf;
- Ansar, Muhammad;
- Ahmad, Wasim;
- Leal, Suzanne M.
Publication type:
Article
Power analysis and sample size estimation for sequence-based association studies.
Published in:
Bioinformatics, 2014, v. 30, n. 16, p. 2377, doi. 10.1093/bioinformatics/btu296
By:
- Wang, Gao T.;
- Li, Biao;
- Lyn Santos-Cortez, Regie P.;
- Peng, Bo;
- Leal, Suzanne M.
Publication type:
Article
Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population.
Published in:
2016
By:
- Santos-Cortez, Regie Lyn P.;
- Reyes-Quintos, Ma. Rina T.;
- Tantoco, Ma. Leah C.;
- Abbe, Izoduwa;
- Llanes, Erasmo Gonzalo d.V.;
- Ajami, Nadim J.;
- Hutchinson, Diane S.;
- Petrosino, Joseph F.;
- Padilla, Carmencita D.;
- Villarta, Romeo L.;
- Gloria-Cruz, Teresa Luisa;
- Chan, Abner L.;
- Cutiongco-de la Paz, Eva Maria;
- Chiong, Charlotte M.;
- Leal, Suzanne M.;
- Abes, Generoso T.;
- Villarta, Romeo L Jr
Publication type:
journal article

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