Advances in Molecular Genetics and the Molecular Biology of Deafness

ανά Nishio, Shin-ya, Schrauwen, Isabelle, Moteki, Hideaki, Azaiez, Hela
Τόπος έκδοσης Biomed Res Int (2016)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2019)

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

ανά 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.
Τόπος έκδοσης Aging (Albany NY) (2020)

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

ανά 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.
Τόπος έκδοσης Hear Res (2015)

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

ανά 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.
Τόπος έκδοσης Hum Genet (2018)

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

ανά 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
Τόπος έκδοσης Ear Hear (2020)

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

ανά 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
Τόπος έκδοσης 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

ανά 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.
Τόπος έκδοσης Eur J Hum Genet (2019)

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

ανά 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
Τόπος έκδοσης Genes (Basel) (2020)

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

ανά 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.
Τόπος έκδοσης PLoS One (2014)

Heterozygosity mapping for human dominant trait variants

ανά 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
Τόπος έκδοσης Hum Mutat (2019)