المؤلفون: Järvelä, Irma, Paetau, Ritva, Rajendran, Yasmin, Acharya, Anushree, Bharadwaj, Thashi, Leal, Suzanne M, Lehesjoki, Anna-Elina, Palomäki, Maarit, Schrauwen, Isabelle

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, HUS Medical Imaging Center, Lastenneurologian yksikkö, Children's Hospital

مصطلحات موضوعية: 3112 Neurosciences, 3124 Neurology and psychiatry

وصف الملف: application/pdf

العلاقة: Järvelä , I , Paetau , R , Rajendran , Y , Acharya , A , Bharadwaj , T , Leal , S M , Lehesjoki , A-E , Palomäki , M & Schrauwen , I 2024 , ' Heterogenous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort ' , Brain communications , vol. 6 , no. 3 , fcae142 . https://doi.org/10.1093/braincomms/fcae142Test; Bibtex: 10.1093/braincomms/fcae142; http://hdl.handle.net/10138/575238Test; aeb36371-02ac-4781-a311-94b4984edc48

الإتاحة: http://hdl.handle.net/10138/575238Test

المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid M., Ruzhnikov, Maura R. Z., Fallot, Camille, Smol, Thomas, Rama, Melanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald R., Thabet, Farouq, Misra, Vinod K., Cunningham, Mitch, Leal, Suzanne M., Järvelä, Irma, Normand, Elizabeth A., Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy K., Schrauwen, Isabelle

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001

الإتاحة: http://hdl.handle.net/10138/353339Test

المؤلفون: Skariah, Sini, Abdul-Majid, Sara, Hay, Anthony G., Acharya, Anushree, Kano, Noora, Al-Ishaq, Raghad Khalid, de Figueiredo, Paul, Han, Arum, Guzman, Adrian, Dargham, Soha Roger, Sameer, Saad, Kim, Gi Eun, Khan, Sabiha, Pillai, Priyamvada, Sultan, Ali A.

المساهمون: Afriat-Jurnou, Livnat, QF | Qatar National Research Fund

المصدر: Microbiology Spectrum ; volume 11, issue 2 ; ISSN 2165-0497

الإتاحة: https://doi.org/10.1128/spectrum.03462-22Test

المؤلفون: Schrauwen, Isabelle, Rajendran, Yasmin, Acharya, Anushree, Öhman, Susanna, Arvio, Maria, Paetau, Ritva, Siren, Auli, Avela, Kristiina, Granvik, Johanna, Leal, Suzanne M., Määttä, Tuomo, Kokkonen, Hannaleena, Järvelä, Irma

المصدر: Scientific Reports; 5/16/2024, Vol. 14 Issue 1, p1-7, 7p

مصطلحات موضوعية: GENE mapping, DNA copy number variations, NEURAL development, GENETIC variation, MOLECULAR diagnosis, EXOMES, GENOMES

المؤلفون: Salokivi, Tommi, Parkkola, Riitta, Rajendran, Yasmin, Bharadwaj, Thashi, Acharya, Anushree, Leal, Suzanne M., Järvelä, Irma, Arvio, Maria, Schrauwen, Isabelle

المصدر: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-4, 4p

المؤلفون: Bharadwaj, Thashi, Schrauwen, Isabelle, Acharya, Anushree, Nouel-Saied, Liz M., Väisänen, Marja-Leena, Kraatari, Minna, Rahikkala, Elisa, Jarvela, Irma, Kotimäki, Jouko, Leal, Suzanne M.

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: autosomal recessive, CABP2, hearing impairment, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: We would like to thank the families for participating in the study and the participants and investigators of the FinnGen study. The research was supported by the National Institute of Health and other Communication Disorders (grant nos. R01 DC011651 and R01 DC003594 to SML).; Bharadwaj , T , Schrauwen , I , Acharya , A , Nouel-Saied , L M , Väisänen , M-L , Kraatari , M , Rahikkala , E , Jarvela , I , Kotimäki , J & Leal , S M 2022 , ' Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant ' , Molecular Genetics & Genomic Medicine , vol. 10 , no. 3 , 1866 . https://doi.org/10.1002/mgg3.1866Test; ORCID: /0000-0002-1770-6187/work/110875209; 09eb3d3b-4dca-4c23-a8d6-aeac1bc41b0d; http://hdl.handle.net/10138/342190Test; 000754241200001

الإتاحة: http://hdl.handle.net/10138/342190Test

المؤلفون: Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, HYKS erva, Päijät-Häme Welfare Consortium, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Children and Adolescents, Children's Hospital, Lastenneurologian yksikkö, Clinicum

مصطلحات موضوعية: 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Open access funding provided by University of Helsinki including Helsinki University Central Hospital. This study was funded in part by the US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute UM1 HG006542 to the Baylor-Hopkins Center for Mendelian Genomics. JEP was funded by US NHGRI K08 HG008986.; Järvelä , I , Määttä , T , Acharya , A , Leppälä , J , Jhangiani , S N , Arvio , M , Siren , A , Kankuri-Tammilehto , M , Kokkonen , H , Palomäki , M , Varilo , T , Fang , M , Hadley , T D , Jolly , A , Linnankivi , T , Paetau , R , Saarela , A , Kälviäinen , R , Olme , J , Nouel-Saied , L M , Cornejo-Sanchez , D M , Llaci , L , Lupski , J R , Posey , J E , Leal , S M & Schrauwen , I 2021 , ' Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland ' , Human Genetics , vol. 140 , no. 7 , pp. 1011-1029 . https://doi.org/10.1007/s00439-021-02268-1Test; ORCID: /0000-0002-1770-6187/work/106787752; ORCID: /0000-0002-5839-8854/work/106791595; 0b07537e-1b25-485a-8047-1badb4be641d; http://hdl.handle.net/10138/339008Test; 000628130900001

الإتاحة: http://hdl.handle.net/10138/339008Test

المؤلفون: Bharadwaj, Thashi, Schrauwen, Isabelle, Rehman, Sakina, Liaqat, Khurram, Acharya, Anushree, Giese, Arnaud P.J., Nouel-Saied, Liz M., Nasir, Abdul, Everard, Jenna L., Pollock, Lana M., Zhu, Shaoyuan, Bamshad, Michael J., Nickerson, Deborah A., Ali, Raja Hussain, Ullah, Asmat, Wali, Abdul, Ali, Ghazanfar, Santos-Cortez, Regie Lyn P., Ahmed, Zubair M., McDermott, Brian M., Ansar, Muhammad, Riazuddin, Saima, Ahmad, Wasim, Leal, Suzanne M.

المصدر: Bharadwaj , T , Schrauwen , I , Rehman , S , Liaqat , K , Acharya , A , Giese , A P J , Nouel-Saied , L M , Nasir , A , Everard , J L , Pollock , L M , Zhu , S , Bamshad , M J , Nickerson , D A , Ali , R H , Ullah , A , Wali , A , Ali , G , Santos-Cortez , R L P , Ahmed , Z M , McDermott , B M , Ansar , M , Riazuddin , S ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41431-021-00913-xTest
https://curis.ku.dk/portal/da/publications/adamts1-mpdz-mvd-and-sez6Test(c4b03ce9-9847-4ace-acab-09f8ba1963fc).html
https://curis.ku.dk/ws/files/289458884/s41431_021_00913_x.pdfTest

المؤلفون: Hussain, Shabir, Nawaz, Shoaib, Khan, Hammal, Acharya, Anushree, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.

المساهمون: Higher Education Commision, Pakistan

المصدر: Annals of Human Genetics ; volume 86, issue 6, page 291-296 ; ISSN 0003-4800 1469-1809

الإتاحة: https://doi.org/10.1111/ahg.12462Test

المؤلفون: Wonkam, Ambroise, Adadey, Samuel Mawuli, Schrauwen, Isabelle, Aboagye, Elvis Twumasi, Wonkam-Tingang, Edmond, Esoh, Kevin, Popel, Kalinka, Manyisa, Noluthando, Jonas, Mario, deKock, Carmen, Nembaware, Victoria, Cornejo Sanchez, Diana M., Bharadwaj, Thashi, Nasir, Abdul, Everard, Jenna L., Kadlubowska, Magda K., Nouel-Saied, Liz M., Acharya, Anushree, Quaye, Osbourne, Amedofu, Geoffrey K., Awandare, Gordon A., Leal, Suzanne M.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health, Wellcome Trust

المصدر: Communications Biology ; volume 5, issue 1 ; ISSN 2399-3642

مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1038/s42003-022-03326-8Test
https://www.nature.com/articles/s42003-022-03326-8.pdfTest
https://www.nature.com/articles/s42003-022-03326-8Test