431 Evaluating defective Transcription Coupled-Nucleotide Excision Repair as a mechanism for sensorineural hearing loss in a zebrafish model of Cockayne Syndrome

por Hernandez-Herrera, Gabriel, Dugdale, Joseph, Schimmenti, Lisa A., Clark, Karl, Cotter, Ryan
Publicado 2023

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

por Wilton, Katelynn M., Gunderson, Lauren B., Hasadsri, Linda, Wood, Christopher P., Schimmenti, Lisa A.
Publicado 2020

New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells

por Beurg, Maryline, Schimmenti, Lisa A., Koleilat, Alaa, Amr, Sami S., Oza, Andrea, Barlow, Amanda J., Ballesteros, Angela, Fettiplace, Robert
Publicado 2021

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

por Brodsky, Michael C., Olson, Rory J., Asumda, Faizal Z., Lopour, Madeline Q.R., Schimmenti, Lisa A., Klee, Eric W.
Publicado 2023

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

por Zhou, Jie, Kherani, Femida, Bardakjian, Tanya M., Katowitz, James, Hughes, Nkecha, Schimmenti, Lisa A., Schneider, Adele, Young, Terri L.
Publicado 2008

Alström syndrome caused by maternal uniparental disomy

por Lopour, Madeline Q.R., Schimmenti, Lisa A., Boczek, Nicole J., Kearney, Hutton M., Drack, Arlene V., Brodsky, Michael C.
Publicado 2022

Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report

por Asumda, Faizal Z., Kraker, Jessica A., Thomas, Sarah C., Maleszewski, Joseph, Stone, Edwin M., Lanpher, Brendan C., Schimmenti, Lisa A.
Publicado 2023

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India

por Yohe, Sophia, Sivasankar, Malaichamy, Ghosh, Anuprita, Ghosh, Arkasubhra, Holle, Jennifer, Murugan, Sakthivel, Gupta, Ravi, Schimmenti, Lisa A., Vedam, Ramprasad, Thyagarajan, Bharat
Publicado 2019

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

por Kiessling, Patrick, Dowling, Eric, Huang, Yajue, Ho, Mai Lan, Balakrishnan, Karthik, Weigel, Brenda J., Highsmith, W. Edward, Niu, Zhiyv, Schimmenti, Lisa A.
Publicado 2019

L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1

por Koleilat, Alaa, Dugdale, Joseph A., Christenson, Trace A., Bellah, Jeffrey L., Lambert, Aaron M., Masino, Mark A., Ekker, Stephen C., Schimmenti, Lisa A.
Publicado 2020

Development and Notch Signaling Requirements of the Zebrafish Choroid Plexus

por Bill, Brent R., Balciunas, Darius, McCarra, Joshua A., Young, Eric D., Xiong, Toua, Spahn, Ashley M., Garcia-Lecea, Marta, Korzh, Vladimir, Ekker, Stephen C., Schimmenti, Lisa A.
Publicado 2008

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases

por Pei, Wuhong, Xu, Lisha, Varshney, Gaurav K., Carrington, Blake, Bishop, Kevin, Jones, MaryPat, Huang, Sunny C., Idol, Jennifer, Pretorius, Pamela R., Beirl, Alisha, Schimmenti, Lisa A., Kindt, Katie S., Sood, Raman, Burgess, Shawn M.
Publicado 2016

Genome-Wide Reverse Genetics Framework to Identify Novel Functions of the Vertebrate Secretome

por Pickart, Michael A., Klee, Eric W., Nielsen, Aubrey L., Sivasubbu, Sridhar, Mendenhall, Eric M., Bill, Brent R., Chen, Eleanor, Eckfeldt, Craig E., Knowlton, Michelle, Robu, Mara E., Larson, Jon D., Deng, Yun, Schimmenti, Lisa A., Ellis, Lynda B.M., Verfaillie, Catherine M., Hammerschmidt, Matthias, Farber, Steven A., Ekker, Stephen C.
Publicado 2006

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

por DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.
Publicado 2019

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

por Patel, Mayher J, DiStefano, Marina T, Oza, Andrea M, Hughes, Madeline Y, Wilcox, Emma H, Hemphill, Sarah E, Cushman, Brandon J, Grant, Andrew R, Siegert, Rebecca K, Shen, Jun, Chapin, Alex, Boczek, Nicole J, Schimmenti, Lisa A, Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T, Avraham, Karen B, Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L, Amr, Sami S, Tayoun, Ahmad N Abou
Publicado 2021

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

por van Woerden, Geeske M., Senden, Richelle, de Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., van Bever, Yolande, Bird, Lynne M., van Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., van Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Publicado 2022

Building the vertebrate codex using the gene breaking protein trap library

por Ichino, Noriko, Serres, MaKayla R, Urban, Rhianna M, Urban, Mark D, Treichel, Anthony J, Schaefbauer, Kyle J, Tallant, Lauren E, Varshney, Gaurav K, Skuster, Kimberly J, McNulty, Melissa S, Daby, Camden L, Wang, Ying, Liao, Hsin-kai, El-Rass, Suzan, Ding, Yonghe, Liu, Weibin, Anderson, Jennifer L, Wishman, Mark D, Sabharwal, Ankit, Schimmenti, Lisa A, Sivasubbu, Sridhar, Balciunas, Darius, Hammerschmidt, Matthias, Farber, Steven Arthur, Wen, Xiao-Yan, Xu, Xiaolei, McGrail, Maura, Essner, Jeffrey J, Burgess, Shawn M, Clark, Karl J, Ekker, Stephen C
Publicado 2020