Search Results - "Lyn, P"

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice 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

“…ABSTRACT Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial…”
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss 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., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheikh, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima

“…Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic…”
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Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness 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.

“…ABSTRACT Deafness in humans is a common neurosensory disorder and is genetically heterogeneous. Across diverse ethnic groups, mutations of MYO15A at the DFNB3…”
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LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections by Guo, Dong-chuan, Regalado, Ellen S, Gong, Limin, Duan, Xueyan, Santos-Cortez, Regie Lyn P, Arnaud, Pauline, Ren, Zhao, Cai, Bo, Hostetler, Ellen M, Moran, Rocio, Liang, David, Estrera, Anthony, Safi, Hazim J, Leal, Suzanne M, Bamshad, Michael J, Shendure, Jay, Nickerson, Deborah A, Jondeau, Guillaume, Boileau, Catherine, Milewicz, Dianna M

“…RATIONALE:Mutations in several genes have been identified that are responsible for 25% of families with familial thoracic aortic aneurysms and dissections…”
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Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family by Yousaf, Ayesha, Yousaf, Sairah, Shabbir, Asra S., Yousaf, Rafia, Riazuddin, Saima, Shaikh, Rehan S., Santos‐Cortez, Regie Lyn P., Ahmed, Zubair M.

“…Background Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a…”
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Editorial: Otitis media susceptibility due to genetic variants by Marom, Tal, Swords, W Edward, Santos-Cortez, Regie Lyn P

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Mutation of ATF6 causes autosomal recessive achromatopsia by 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.

“…Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently…”
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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability 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, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.

“…Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been…”
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome 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, Rieder, Mark J, Vahanian, Alec, Nickerson, Deborah A, Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M

“…Dianna Milewicz and colleagues report the identification of loss-of-function mutations in TGFB2 in individuals with familial thoracic aortic aneurysm and acute…”
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Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89 by 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.

“…Previously, DFNB89, a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI), was mapped to chromosomal region 16q21–q23.2 in three…”
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Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry by Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C, Santos-Cortez, Regie Lyn P, Schrauwen, Isabelle, Leal, Suzanne M

“…Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive…”
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RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease by CECCHI, Alana C, DONGCHUAN GUO, BAMSHAD, Michael J, GROTTA, James C, NICKERSON, Deborah A, PANNU, Hariyadarshi, MILEWICZ, Dianna M, ZHAO REN, FLYNN, Kelly, SANTOS-CORTEZ, Regie Lyn P, LEAL, Suzanne M, WANG, Gao T, REGALADO, Ellen S, STEINBERG, Gary K, SHENDURE, Jay

“…Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease resulting from occlusion of the distal internal carotid arteries. A variant…”
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency by Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.

“…Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that…”
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Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 by 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.

“…Inherited deafness is clinically and genetically heterogeneous. We recently mapped DFNB86, a locus associated with nonsyndromic deafness, to chromosome 16p. In…”
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Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies by Lee, Nam K, Uhler, Kristin M, Yoon, Patricia J, Santos-Cortez, Regie Lyn P

“…Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently,…”
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Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data by 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.

“…Many population-based rare-variant (RV) association tests, which aggregate variants across a region, have been developed to analyze sequence data. A drawback…”
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Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees 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.

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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly 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., Ahmad, Jamil, Ansar, Muhammad, Borck, Guntram, Ahmad, Wasim, Leal, Suzanne M.

“…Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can…”
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A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome by Malik, Madiha Amin, Saqib, Muhammad Arif Nadeem, Mientjes, Edwin, Acharya, Anushree, Alam, Muhammad Rizwan, Wallaard, Ilse, Schrauwen, Isabelle, Bamshad, Michael J, Santos-Cortez, Regie Lyn P, Elgersma, Ype, Leal, Suzanne M, Ansar, Muhammad

“…Intellectual disability (ID) and retinal dystrophy (RD) are the frequently found features of multiple syndromes involving additional systemic manifestations…”
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The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media by Elling, Christina L., Gomez, Helen Z., Lee, Nam K., Hirsch, Scott D., Santos-Cortez, Regie Lyn P.

“…Inflammation and infection of the middle ear, known as otitis media (OM), is a leading cause of hearing loss and the most frequently diagnosed disease in…”
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