Advances in Molecular Genetics and the Molecular Biology of Deafness

par Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
Publié dans Biomed Res Int (2016)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

par Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Publié dans 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

par 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
Publié dans Mol Genet Genomic Med (2019)

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

par 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.
Publié dans Aging (Albany NY) (2020)

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

par 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.
Publié dans Hear Res (2015)

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

par 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.
Publié dans Hum Genet (2018)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

par 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
Publié dans Ear Hear (2020)

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

par 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
Publié dans 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

par 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.
Publié dans Eur J Hum Genet (2019)

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

par 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
Publié dans Genes (Basel) (2020)

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

par 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.
Publié dans PLoS One (2014)

Heterozygosity mapping for human dominant trait variants

par 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
Publié dans Hum Mutat (2019)