An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
Labonne, Jonathan D. J., Lee, Kang-Han, Iwase, Shigeki, Kong, Il-Keun, Diamond, Michael P., Layman, Lawrence C., Kim, Cheol-Hee, Kim, Hyung-Goo
Published in Human genetics (01.07.2016)
Published in Human genetics (01.07.2016)
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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
Labonne, Jonathan D J, Graves, Tyler D, Shen, Yiping, Jones, Julie R, Kong, Il-Keun, Layman, Lawrence C, Kim, Hyung-Goo
Published in BMC neurology (09.08.2016)
Published in BMC neurology (09.08.2016)
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Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Doll, Julia, Vona, Barbara, Schnapp, Linda, Rüschendorf, Franz, Khan, Imran, Khan, Saadullah, Muhammad, Noor, Alam Khan, Sher, Nawaz, Hamed, Khan, Ajmal, Ahmad, Naseer, Kolb, Susanne M., Kühlewein, Laura, Labonne, Jonathan D. J., Layman, Lawrence C., Hofrichter, Michaela A. H., Röder, Tabea, Dittrich, Marcus, Müller, Tobias, Graves, Tyler D., Kong, Il-Keun, Nanda, Indrajit, Kim, Hyung-Goo, Haaf, Thomas
Published in Genes (01.11.2020)
Published in Genes (01.11.2020)
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Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
Labonne, Jonathan D J, Driessen, Terri M, Harris, Marvin E, Kong, Il-Keun, Brakta, Soumia, Theisen, John, Sangare, Modibo, Layman, Lawrence C, Kim, Cheol-Hee, Lim, Janghoo, Kim, Hyung-Goo
Published in Journal of clinical medicine (19.01.2020)
Published in Journal of clinical medicine (19.01.2020)
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Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin–Lowry syndrome
Labonne, Jonathan D.J., Chung, Min Ji, Jones, Julie R., Anand, Priya, Wenzel, Wolfgang, Iacoboni, Daniela, Layman, Lawrence C., Kim, Hyung-Goo
Published in Gene (01.01.2016)
Published in Gene (01.01.2016)
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Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
Labonne, Jonathan D J, Shen, Yiping, Kong, Il-Keun, Diamond, Michael P, Layman, Lawrence C, Kim, Hyung-Goo
Published in Molecular cytogenetics (17.03.2016)
Published in Molecular cytogenetics (17.03.2016)
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A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies
Labonne, Jonathan D. J., Vogt, Julie, Reali, Lisa, Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Ha, Kyungsoo, Anand, Priya, Lee, Jennifer A, Jones, Julie R, Kim, Chong Ae, Bertola, Debora Romeo, Labonne, Jonathan D J, Layman, Lawrence C, Wenzel, Wolfgang, Kim, Hyung-Goo
Published in Genes (09.11.2016)
Published in Genes (09.11.2016)
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The long and short of the S-locus in Turnera (Passifloraceae)
Shore, Joel S., Hamam, Hasan J., Chafe, Paul D. J., Labonne, Jonathan D. J., Henning, Paige M., McCubbin, Andrew G.
Published in The New phytologist (01.11.2019)
Published in The New phytologist (01.11.2019)
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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Susgun, Seda, Ben-Mahmoud, Afif, Rüschendorf, Franz, Ku, Bonsu, Hussain, Syeda Iqra, Schulz, Solveig, Puk, Oliver, Biskup, Saskia, Labonne, Jonathan D. J., Don, Dilan Wellalage, Gupta, Vijay, Choi, Tae-Ik, Khan, Saadullah, Wasif, Naveed, Lacassie, Yves, Layman, Lawrence C., Ugur Iseri, Sibel Aylin, Kim, Cheol-Hee, Kim, Hyung-Goo
Published in Human mutation (05.01.2024)
Published in Human mutation (05.01.2024)
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