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- [21] Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with gangliogliomaPEDIATRIC BLOOD & CANCER, 2012, 58 (05) : 801 - 805Cheung, Hannah C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USAYatsenko, Svetlana A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USAKadapakkam, Meena论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USALegay, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Lyon 1, Fac Pharm, F-69365 Lyon, France Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USASu, Jack论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USAPlon, Sharon E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA Baylor Coll Med, Texas Childrens Canc Ctr, Houston, TX 77030 USA
- [22] A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein FoldingJOURNAL OF BIOLOGICAL CHEMISTRY, 2017, 292 (09) : 3866 - 3876Blackburn, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USA Mayo Clin, Dept Hlth Sci Res, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USATischer, Alexander论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Dept Internal Med, Rochester, MN 55905 USA Mayo Clin, Div Hematol, Dept Biochem & Mol Biol, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAZimmermann, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Hlth Sci Res, Div Biomed Stat & Informat, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAKemppainen, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USASastry, Sujatha论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Pediat, Div Genet & Metab Disorders, Detroit, MI 48201 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAKnight Johnson, Amy E.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USACousin, Margot A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Hlth Sci Res, 200 First St SW,Harwick 3-71, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USABoczek, Nicole J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Hlth Sci Res, 200 First St SW,Harwick 3-71, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAOliver, Gavin论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAMisra, Vinod K.论文数: 0 引用数: 0 h-index: 0机构: Wayne State Univ, Sch Med, Dept Pediat, Div Genet & Metab Disorders, Detroit, MI 48201 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAGavrilova, Ralitza H.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USALomberk, Gwen论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Epigen Translat Program, Lab Epigenet & Chromatin Dynam, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAAuton, Matthew论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematol, Dept Internal Med, Rochester, MN 55905 USA Mayo Clin, Div Hematol, Dept Biochem & Mol Biol, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAUrrutia, Raul论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Epigen Translat Program, Lab Epigenet & Chromatin Dynam, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USAKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Hlth Sci Res, 200 First St SW,Harwick 3-71, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Jacksonville, FL 32224 USA
- [23] CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyStem Cell Research & Therapy, 13Vanessa S. Fear论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceCatherine A. Forbes论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceDenise Anderson论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceSebastian Rauschert论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceGenevieve Syn论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceNicole Shaw论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceSarra Jamieson论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceMichelle Ward论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceGareth Baynam论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern EntranceTimo Lassmann论文数: 0 引用数: 0 h-index: 0机构: Perth Children’s Hospital,Translational Genetics, Precision Health, Telethon Kids Institute, Northern Entrance
- [24] Novel SAR for quinazoline inhibitors of EHMT1 and EHMT2BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 2019, 29 (17) : 2516 - 2524Leenders, Ruben论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsZijlmans, Remco论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlandsvan Bree, Bart论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlandsvan de Sande, Marc论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsTrivarelli, Federica论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsDamen, Eddy论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsWegert, Anita论文数: 0 引用数: 0 h-index: 0机构: Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsMueller, Daniel论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsEhlert, Jan Erik论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsFeger, Daniel论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsHeidemann-Dinger, Carolin论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsKubbutat, Michael论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsSchaechtele, Christoph论文数: 0 引用数: 0 h-index: 0机构: ProQinase GmbH, Breisacher Str 117, D-19106 Freiburg, Germany Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsLenstra, Danny C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Inst Mol & Mat, Heyendaalseweg 135, NL-6525 AJ Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsMecinovic, Jasmin论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Inst Mol & Mat, Heyendaalseweg 135, NL-6525 AJ Nijmegen, Netherlands Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, NetherlandsMueller, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Gotham Therapeut, 430 East 29th St, New York, NY 10016 USA Mercachem BV, Kerkenbos 1013, NL-6546 BB Nijmegen, Netherlands
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