Advances in Molecular Genetics and the Molecular Biology of Deafness

অনুযায়ী Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
প্রকাশিত Biomed Res Int (2016)

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

অনুযায়ী Lindquist, Nathan R., Appelbaum, Eric N., Acharya, Anushree, Vrabec, Jeffrey T., Leal, Suzanne M., Schrauwen, Isabelle
প্রকাশিত Case Rep Genet (2019)

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

অনুযায়ী Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
প্রকাশিত F1000Res (2015)

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

অনুযায়ী Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C., Santos-Cortez, Regie Lyn P., Schrauwen, Isabelle, Leal, Suzanne M.
প্রকাশিত Eur J Hum Genet (2019)

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling

অনুযায়ী Ealy, Megan, Meyer, Nicole C., Corchado, Johnny Cruz, Schrauwen, Isabelle, Bress, Andreas, Pfister, Markus, Van Camp, Guy, Smith, Richard JH
প্রকাশিত 2014

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment

অনুযায়ী Schrauwen, Isabelle, Liaqat, Khurram, Schatteman, Isabelle, Bharadwaj, Thashi, Nasir, Abdul, Acharya, Anushree, Ahmad, Wasim, Van Camp, Guy, Leal, Suzanne M.
প্রকাশিত Genes (Basel) (2020)

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

অনুযায়ী Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.
প্রকাশিত BMC Med Genet (2018)

Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves

অনুযায়ী Kari, Elina, Schrauwen, Isabelle, Llaci, Lorida, Fisher, Laurel M., Go, John L., Naymik, Marcus, Knowles, James A., Huentelman, Matthew J., Friedman, Rick A.
প্রকাশিত Neurol Genet (2017)

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

অনুযায়ী Wonkam-Tingang, Edmond, Schrauwen, Isabelle, Esoh, Kevin K, Bharadwaj, Thashi, Nouel-Saied, Liz M, Acharya, Anushree, Nasir, Abdul, Leal, Suzanne M, Wonkam, Ambroise
প্রকাশিত Exp Biol Med (Maywood) (2021)

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

অনুযায়ী Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
প্রকাশিত J Hum Genet (2019)

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

অনুযায়ী Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle
প্রকাশিত Mol Genet Genomic Med (2019)

ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer’s disease

অনুযায়ী Piras, Ignazio S., Bleul, Christiane, Talboom, Joshua S., De Both, Matthew D., Schrauwen, Isabelle, Halliday, Glenda, Myers, Amanda J., Serrano, Geidy E., Beach, Thomas G., Huentelman, Matthew J.
প্রকাশিত Aging (Albany NY) (2020)

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear

অনুযায়ী Schrauwen, Isabelle, Hasin-Brumshtein, Yehudit, Corneveaux, Jason J., Ohmen, Jeffrey, White, Cory, Allen, April N., Lusis, Aldons J., Van Camp, Guy, Huentelman, Matthew J., Friedman, Rick A.
প্রকাশিত Hear Res (2015)

De Novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

অনুযায়ী Schrauwen, Isabelle, Kari, Elina, Mattox, Jacob, Llaci, Lorida, Smeeton, Joanna, Naymik, Marcus, Raible, David W., Knowles, James A., Crump, J. Gage, Huentelman, Matthew J., Friedman, Rick A.
প্রকাশিত Hum Genet (2018)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

অনুযায়ী Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Liang, Winnie, Friedman, Rick A., Schrauwen, Isabelle
প্রকাশিত Ear Hear (2020)

Ca(2+)-binding protein 2 inhibits Ca(2+)-channel inactivation in mouse inner hair cells

অনুযায়ী Picher, Maria Magdalena, Gehrt, Anna, Meese, Sandra, Ivanovic, Aleksandra, Predoehl, Friederike, Jung, SangYong, Schrauwen, Isabelle, Dragonetti, Alberto Giulio, Colombo, Roberto, Van Camp, Guy, Strenzke, Nicola, Moser, Tobias
প্রকাশিত Proc Natl Acad Sci U S A (2017)

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

অনুযায়ী Schrauwen, Isabelle, Melegh, Béla I., Chakchouk, Imen, Acharya, Anushree, Nasir, Abdul, Poston, Alexis, Cornejo-Sanchez, Diana M., Szabo, Zsolt, Karosi, Tamás, Bene, Judit, Melegh, Béla, Leal, Suzanne M.
প্রকাশিত Eur J Hum Genet (2019)

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

অনুযায়ী Wonkam-Tingang, Edmond, Schrauwen, Isabelle, Esoh, Kevin K., Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Nasir, Abdul, Adadey, Samuel M., Mowla, Shaheen, Leal, Suzanne M., Wonkam, Ambroise
প্রকাশিত Genes (Basel) (2020)

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

অনুযায়ী Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J., Craig, David W.
প্রকাশিত PLoS One (2014)

Heterozygosity mapping for human dominant trait variants

অনুযায়ী Imai‐Okazaki, Atsuko, Li, Yi, Horpaopan, Sukanya, Riazalhosseini, Yasser, Garshasbi, Masoud, Mosse, Yael P., Zhang, Di, Schrauwen, Isabelle, Sharma, Aarushi, Fann, Cathy S. J., Leal, Suzanne M., Lathrop, Mark, Ott, Jurg
প্রকাশিত Hum Mutat (2019)