Advances in Molecular Genetics and the Molecular Biology of Deafness

מאת Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
הוצא לאור ב Biomed Res Int (2016)

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

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

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

מאת Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
הוצא לאור ב F1000Res (2015)

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

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

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

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

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

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

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

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

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

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

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

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

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

מאת Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
הוצא לאור ב 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

מאת 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
הוצא לאור ב Mol Genet Genomic Med (2019)

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

מאת 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.
הוצא לאור ב Aging (Albany NY) (2020)

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

מאת 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.
הוצא לאור ב Hear Res (2015)

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

מאת 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.
הוצא לאור ב Hum Genet (2018)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

מאת 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
הוצא לאור ב Ear Hear (2020)

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

מאת 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
הוצא לאור ב 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

מאת 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.
הוצא לאור ב Eur J Hum Genet (2019)

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

מאת 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
הוצא לאור ב Genes (Basel) (2020)

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

מאת 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.
הוצא לאור ב PLoS One (2014)

Heterozygosity mapping for human dominant trait variants

מאת 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
הוצא לאור ב Hum Mutat (2019)