A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes Autor Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen

Získat plný text

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus Autor Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu

Získat plný text

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa Autor Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

Získat plný text

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene Autor Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

Získat plný text

The genetic contribution of the X chromosome in age-related hearing loss Autor Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal, Suzanne M. Leal

Získat plný text

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant Autor Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal

Získat plný text

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss Autor Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen

Získat plný text

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment Autor Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

Získat plný text

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana Autor Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam

Získat plný text

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders Autor Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä

Získat plný text

Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing. Autor Szabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, Ashley L Siniard, Ahmet A Kurdoglu, Keri M Ramsey, Isabelle Schrauwen, Jeffrey M Trent, Vinodh Narayanan, Matthew J Huentelman, David W Craig

Získat plný text

A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family Autor Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

Získat plný text

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies Autor Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo‐Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan

Získat plný text

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. Autor Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman

Získat plný text

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease Autor Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova, Matthew J. Huentelman

Získat plný text

Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors Autor Joshua S Talboom, Asta Håberg, Matthew D De Both, Marcus A Naymik, Isabelle Schrauwen, Candace R Lewis, Stacy F Bertinelli, Callie Hammersland, Mason A Fritz, Amanda J Myers, Meredith Hay, Carol A Barnes, Elizabeth Glisky, Lee Ryan, Matthew J Huentelman

Získat plný text

Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds. Autor Isabelle Schrauwen, Renee M Barber, Scott J Schatzberg, Ashley L Siniard, Jason J Corneveaux, Brian F Porter, Karen M Vernau, Rebekah I Keesler, Kaspar Matiasek, Thomas Flegel, Andrew D Miller, Teresa Southard, Christopher L Mariani, Gayle C Johnson, Matthew J Huentelman

Získat plný text

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit... Autor Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen

Získat plný text

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali Autor Abdoulaye Yalcouyé, Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya, Thashi Bharadwaj, Rachel Latanich, Kevin Esoh, Cesar A. Fortes-Lima, Carmen de Kock, Mario Jonas, Alassane dit Baneye Maiga, Cheick A.K. Cissé, Moussa A. Sangaré, Cheick O. Guinto, Guida Landouré, Suzanne M. Leal, Ambroise Wonkam

Získat plný text

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects Autor Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

Získat plný text