FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
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
Published in Journal of bone and mineral research (01.02.2019)
Published in Journal of bone and mineral research (01.02.2019)
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Journal Article
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family
Yousaf, Ayesha, Yousaf, Sairah, Shabbir, Asra S., Yousaf, Rafia, Riazuddin, Saima, Shaikh, Rehan S., Santos‐Cortez, Regie Lyn P., Ahmed, Zubair M.
Published in Molecular genetics & genomic medicine (01.09.2024)
Published in Molecular genetics & genomic medicine (01.09.2024)
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Journal Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
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., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheikh, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
Rehman, Atteeq U., Santos-Cortez, Regie Lyn P., Morell, Robert J., Drummond, Meghan C., Ito, Taku, Lee, Kwanghyuk, Khan, Asma A., Basra, Muhammad Asim R., Wasif, Naveed, Ayub, Muhammad, Ali, Rana A., Raza, Syed I., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Riazuddin, Saima, Billington, Neil, Khan, Shaheen N., Friedman, Penelope L., Griffith, Andrew J., Ahmad, Wasim, Riazuddin, Sheikh, Leal, Suzanne M., Friedman, Thomas B.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E., Leal, Suzanne M.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies
Lee, Nam K, Uhler, Kristin M, Yoon, Patricia J, Santos-Cortez, Regie Lyn P
Published in Biomedicines (27.06.2024)
Published in Biomedicines (27.06.2024)
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Journal Article
Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction
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
Published in Genes (30.03.2023)
Published in Genes (30.03.2023)
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Journal Article
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees
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.
Published in Clinical genetics (01.05.2019)
Published in Clinical genetics (01.05.2019)
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Journal Article
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment
Liaqat, Khurram, Chiu, Ilene, Lee, Kwanghyuk, Chakchouk, Imen, Andrade-Elizondo, Paula B, Santos-Cortez, Regie Lyn P, Hussain, Shabir, Nawaz, Shoaib, Ansar, Muhammad, Khan, Muhammad Nasim, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M
Published in Journal of human genetics (01.11.2018)
Published in Journal of human genetics (01.11.2018)
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Journal Article
Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies
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
Published in Genes (13.04.2021)
Published in Genes (13.04.2021)
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Journal Article
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
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.
Published in Human mutation (01.10.2016)
Published in Human mutation (01.10.2016)
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Journal Article
Mutation of ATF6 causes autosomal recessive achromatopsia
Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Saqib, Muhammad Arif Nadeem, Zulfiqar, Fareeha, Lee, Kwanghyuk, Ashraf, Naeem Mahmood, Ullah, Ehsan, Wang, Xin, Sajid, Sundus, Khan, Falak Sher, Amin-ud-Din, Muhammad, Smith, Joshua D., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Hameed, Abdul, Riazuddin, Saima, Ahmed, Zubair M., Ahmad, Wasim, Leal, Suzanne M.
Published in Human genetics (01.09.2015)
Published in Human genetics (01.09.2015)
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Journal Article
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
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, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.
Published in Human genetics (01.09.2018)
Published in Human genetics (01.09.2018)
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Journal Article
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Azeem, Zahid, Antonellis, Patrick J., Pollock, Lana M., Khan, Saadullah, Irfanullah, Andrade-Elizondo, Paula B., Chiu, Ilene, Adams, Mark D., Basit, Sulman, Smith, Joshua D., Nickerson, Deborah A., McDermott, Brian M., Ahmad, Wasim, Leal, Suzanne M.
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C, Santos-Cortez, Regie Lyn P, Schrauwen, Isabelle, Leal, Suzanne M
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Journal Article
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
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., Ahmad, Jamil, Ansar, Muhammad, Borck, Guntram, Ahmad, Wasim, Leal, Suzanne M.
Published in Human genetics (01.06.2019)
Published in Human genetics (01.06.2019)
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Journal Article
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Bharadwaj, Thashi, Schrauwen, Isabelle, Rehman, Sakina, Liaqat, Khurram, Acharya, Anushree, Giese, Arnaud P J, Nouel-Saied, Liz M, Nasir, Abdul, Everard, Jenna L, Pollock, Lana M, Zhu, Shaoyuan, Bamshad, Michael J, Nickerson, Deborah A, Ali, Raja Hussain, Ullah, Asmat, Wali, Abdul, Ali, Ghazanfar, Santos-Cortez, Regie Lyn P, Ahmed, Zubair M, McDermott, Jr, Brian M, Ansar, Muhammad, Riazuddin, Saima, Ahmad, Wasim, Leal, Suzanne M
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
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Journal Article
Editorial: Otitis Media Genomics and the Middle Ear Microbiome
Santos-Cortez, Regie Lyn P, Ehrlich, Garth D, Ryan, Allen F
Published in Frontiers in genetics (12.10.2021)
Published in Frontiers in genetics (12.10.2021)
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Journal Article
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Santos-Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Ansar, Muhammad, Wang, Xin, Morell, Robert J., Isaacson, Rivka, Belyantseva, Inna A., Dai, Hang, Acharya, Anushree, Qaiser, Tanveer A., Muhammad, Dost, Ali, Rana Amjad, Shams, Sulaiman, Hassan, Muhammad Jawad, Shahzad, Shaheen, Raza, Syed Irfan, Bashir, Zil-e-Huma, Smith, Joshua D., Nickerson, Deborah A., Bamshad, Michael J., Riazuddin, Sheikh, Ahmad, Wasim, Friedman, Thomas B., Leal, Suzanne M.
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Journal Article