Advances in Molecular Genetics and the Molecular Biology of Deafness

द्वारा Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
में प्रकाशित Biomed Res Int (2016)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

द्वारा 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
में प्रकाशित Mol Genet Genomic Med (2019)

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

द्वारा 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.
में प्रकाशित Aging (Albany NY) (2020)

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

द्वारा 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.
में प्रकाशित Hear Res (2015)

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

द्वारा 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.
में प्रकाशित Hum Genet (2018)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

द्वारा 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
में प्रकाशित Ear Hear (2020)

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

द्वारा 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
में प्रकाशित 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

द्वारा 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.
में प्रकाशित Eur J Hum Genet (2019)

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

द्वारा 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
में प्रकाशित Genes (Basel) (2020)

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

द्वारा 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.
में प्रकाशित PLoS One (2014)

Heterozygosity mapping for human dominant trait variants

द्वारा 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
में प्रकाशित Hum Mutat (2019)