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2
Academic Journal
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Authors: Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Paivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Gunther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna

Contributors: Institute for Molecular Medicine Finland, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Research Programs Unit, Aarno Palotie / Principal Investigator, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Medicum, University Management, Genomics of Neurological and Neuropsychiatric Disorders

Subject Terms: P4HTM, exome sequencing, HIDEA syndrome, intellectual disability, hypoventilation, TRANSMEMBRANE PROLYL 4-HYDROXYLASE, PHD2 MUTATION, HYPOXIA, ERYTHROCYTOSIS, DEFECTS, ENZYMES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

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Relation: https://doi.org/10.1038/s41436-019-0503-4; Genetics In medicine; Rahikkala , E , Myllykoski , M , Hinttala , R , Vieira , P , Nayebzadeh , N , Weiss , S , Plomp , A S , Bittner , R E , Kurki , M I , Kuismin , O , Lewis , A M , Väisänen , M-L , Kokkonen , H , Westermann , J , Bernert , G , Tuominen , H , Palotie , A , Aaltonen , L , Yang , Y , Potocki , L , Moilanen , J , van Koningsbruggen , S , Wang , X , Schmidt , W M , Koivunen , P & Uusimaa , J 2019 , ' Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) ' , Genetics In medicine , vol. 21 , no. 10 , pp. 2355-2363 . https://doi.org/10.1038/s41436-019-0503-4; PURE: 127913693; PURE UUID: 28fd6f2d-933a-4d8f-a916-3cc3b0f45b95; WOS: 000488530100025; ORCID: /0000-0002-2527-5874/work/97266529; ORCID: /0000-0001-6839-4286/work/101502748; http://hdl.handle.net/10138/306749

Availability: https://doi.org/10.1038/s41436-019-0503-4
http://hdl.handle.net/10138/306749


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4
Academic Journal
Identification of novel candidate disease genes from de novo exonic copy number variants

Authors: Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Pawel

Contributors: Department of Medical and Clinical Genetics, Medicum, Clinicum

Subject Terms: Exon targeted array CGH, Intragenic copy number variants, CNVs, de novo variants, AUTISM SPECTRUM DISORDER, PERSISTENT GASTROESOPHAGEAL-REFLUX, SYNDROMIC DEVELOPMENTAL DELAY, CLINICAL DIAGNOSTIC-TEST, INTELLECTUAL DISABILITY, ARRAY CGH, CHROMOSOMAL MICROARRAY, MENDELIAN DISORDERS, GENOMIC DISORDERS, COGNITIVE PHENOTYPES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

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Relation: https://doi.org/10.1186/s13073-017-0472-7; Genome medicine; Gambin , T , Yuan , B , Bi , W , Liu , P , Rosenfeld , J A , Coban-Akdemir , Z , Pursley , A N , Nagamani , S C S , Marom , R , Golla , S , Dengle , L , Petrie , H G , Matalon , R , Emrick , L , Proud , M B , Treadwell-Deering , D , Chao , H-T , Koillinen , H , Brown , C , Urraca , N , Mostafavi , R , Bernes , S , Roeder , E R , Nugent , K M , Bader , P I , Bellus , G , Cummings , M , Northrup , H , Ashfaq , M , Westman , R , Wildin , R , Beck , A E , Immken , L , Elton , L , Varghese , S , Buchanan , E , Faivre , L , Lefebvre , M , Schaaf , C P , Walkiewicz , M , Yang , Y , Kang , S-H L , Lalani , S R , Bacino , C A , Beaudet , A L , Breman , A M , Smith , J L , Cheung , S W , Lupski , J R , Patel , A , Shaw , C A & Stankiewicz , P 2017 , ' Identification of novel candidate disease genes from de novo exonic copy number variants ' , Genome medicine , vol. 9 , 83 . https://doi.org/10.1186/s13073-017-0472-7; PURE: 90609123; PURE UUID: 1211601a-345d-4e15-81a8-a32672d63498; WOS: 000411366300001; Scopus: 85029750433; http://hdl.handle.net/10138/225108

Availability: https://doi.org/10.1186/s13073-017-0472-7
http://hdl.handle.net/10138/225108


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12
Academic Journal
Additional file 2: of Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases ...

Authors: Dharmadhikari, Avinash, Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Masri, Sami, Scull, Jennifer, Posey, Jennifer, Jiang, Allen, He, Weimin, Vetrini, Francesco, Braxton, Alicia, Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad, Smith, Janice, Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos, Patel, Ankita, Breman, Amy, Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard, Beaudet, Arthur, Eng, Christine, Lupski, James, Yang, Yaping, Bi, Weimin

Subject Terms: Medicine, Cell Biology, Genetics, FOS Biological sciences, Molecular Biology, Biotechnology, Chemical Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, Developmental Biology, Cancer, Infectious Diseases, FOS Health sciences, Virology, Computational Biology

Relation: https://dx.doi.org/10.1186/s13073-019-0639-5

Availability: https://doi.org/10.6084/m9.figshare.814790310.1186/s13073-019-0639-5
https://springernature.figshare.com/articles/journal_contribution/Additional_file_2_of_Copy_number_variant_and_runs_of_homozygosity_detection_by_microarrays_enabled_more_precise_molecular_diagnoses_in_11_020_clinical_exome_cases/8147903

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