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- [31] MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variantsGENETICS IN MEDICINE, 2019, 21 (01) : 144 - 151Wallace, Stephanie E.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USARegalado, Ellen S.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAGong, Limin论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAJanda, Alexandra L.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAGuo, Dong-chuan论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USARusso, Claudio F.论文数: 0 引用数: 0 h-index: 0机构: Niguarda Ca Granda Metropolital Hosp, Div Cardiac Surg, Milan, Italy Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAKulmacz, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAHanna, Nadine论文数: 0 引用数: 0 h-index: 0机构: Hop Bichat Claude Bernard, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Hop Bichat, INSERM, U1148,Lab Vasc Translat Sci, Paris, France Hop Bichat Claude Bernard, AP HP, Serv Cardiol, Ctr Reference Malad Rares Syndrome Marfan & Patho, Paris, France Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAJondeau, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Bichat, INSERM, U1148,Lab Vasc Translat Sci, Paris, France Hop Bichat Claude Bernard, AP HP, Serv Cardiol, Ctr Reference Malad Rares Syndrome Marfan & Patho, Paris, France Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USABoileau, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Bichat Claude Bernard, AP HP, Dept Genet, Paris, France Univ Paris Diderot, Hop Bichat, INSERM, U1148,Lab Vasc Translat Sci, Paris, France Hop Bichat Claude Bernard, AP HP, Serv Cardiol, Ctr Reference Malad Rares Syndrome Marfan & Patho, Paris, France Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Lee, Kwanghyuk论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USALeal, Suzanne M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAHannuksela, Matias论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Surg & Perioperat Sci, Umea, Sweden Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USACarlberg, Bo论文数: 0 引用数: 0 h-index: 0机构: Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAJohnston, Tami论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAAntolik, Christian论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAHostetler, Ellen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAColombo, Roberto论文数: 0 引用数: 0 h-index: 0机构: Niguarda Ca Granda Metropolitan Hosp, Ctr Study Rare Hereditary Dis, Milan, Italy Catholic Univ, IRCCS Policlin Agostino Gemelli, Inst Clin Biochem, Fac Med, Rome, Italy Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USAMilewicz, Dianna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, McGovern Med Sch, Dept Internal Med, Houston, TX 77030 USA
- [32] Genomic characterization of lymphomas in patients with inborn errors of immunityBLOOD ADVANCES, 2022, 6 (18) : 5403 - 5414Ye, Xiaofei论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Kindstar Global Precis Med Inst, Wuhan, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenMaglione, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Boston Univ, Sch Med, Pulm Ctr, Boston, MA 02118 USA Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden论文数: 引用数: h-index:机构:Li, Xiaobo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Shenzhen Key Lab Genom, Guangdong Prov Key Lab Human Dis Genom, Shenzhen, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenWang, Yating论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden论文数: 引用数: h-index:机构:Deripapa, Elena论文数: 0 引用数: 0 h-index: 0机构: Ctr Pediat Hematol, Immunol, Oncol, Moscow, Russia Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenLiu, Dongbing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Shenzhen Key Lab Genom, Guangdong Prov Key Lab Human Dis Genom, Shenzhen, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenBorte, Stephan论文数: 0 引用数: 0 h-index: 0机构: Hosp St Georg Leipzig, Immunodeficiency Ctr Leipzig, Leipzig, Germany Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenDu, Likun论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenWan, Hui论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenPloetner, Andreas论文数: 0 引用数: 0 h-index: 0机构: Hosp St Georg Leipzig, Inst Pathol, Leipzig, Germany Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenGiannoula, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenKo, Huai-Bin论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Div Allergy & Clin Immunol, New York, NY 10029 USA Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenHou, Yong论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenZhu, Shida论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen Engn Lab Innovat Mol Diagnost, Shenzhen, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenGrossman, Jennifer K.论文数: 0 引用数: 0 h-index: 0机构: Alberta Hlth Serv, Div Hematol & Hematol Malignancies, Calgary, AB, Canada Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenSander, Birgitta论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Lab Med, Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenGrimbacher, Bodo论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Ctr Chron Immunodeficiency, Med Ctr, Freiburg, Germany Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenHammarstrom, Lennart论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenFedorova, Alina论文数: 0 引用数: 0 h-index: 0机构: Belarusian Res Ctr Pediat Oncol Hematol & Immunol, Minsk, BELARUS Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenRosenzweig, Sergio D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Dept Lab Med, Clin Ctr, Bldg 10, Bethesda, MD 20892 USA Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenShcherbina, Anna论文数: 0 引用数: 0 h-index: 0机构: Ctr Pediat Hematol, Immunol, Oncol, Moscow, Russia Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenWu, Kui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Shenzhen Key Lab Genom, Guangdong Prov Key Lab Human Dis Genom, Shenzhen, Peoples R China Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenWarnatz, Klaus论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Fac Med, Ctr Chron Immunodeficiency, Med Ctr, Freiburg, Germany Univ Freiburg, Fac Med, Dept Rheumatol & Clin Immunol, Med Ctr, Freiburg, Germany Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenCunningham-Rundles, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Div Allergy & Clin Immunol, New York, NY 10029 USA Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, SwedenPan-Hammarstrom, Qiang论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden Karolinska Inst, Dept Biosci & Nutr, Blickagangen 16, S-14183 Huddinge, Sweden
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- [36] A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect predictionFRONTIERS IN MOLECULAR BIOSCIENCES, 2023, 10Bohn, Emma论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaLau, Tammy T. Y.论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaWagih, Omar论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaMasud, Tehmina论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Deep Genom Inc, Toronto, ON, CanadaMerico, Daniele论文数: 0 引用数: 0 h-index: 0机构: Deep Genom Inc, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Vevo Therapeut, San Francisco, CA 94107 USA Deep Genom Inc, Toronto, ON, Canada
- [37] Copy number variants in pediatric patients with suspected inborn errors of immunityEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 437 - 437Beers, Breanna论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USASimiluk, Morgan论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAWalkiewicz, Magdalena论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAKamen, Michael论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USASetzer, Michael论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAJodarski, Colleen论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAGore, Rachel论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USASeifert, Bryce论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAGhosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USADuncan, Rylee论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAHunt, Devin论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAMixer, Madison论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAJevtich, Kathleen论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAYu, Yunting论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAFranco, Luis M.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAHolland, Steven论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USAYan, Jia论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD USA NIH, Bethesda, MD USA
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- [39] Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteriaSCIENTIFIC REPORTS, 2022, 12 (01)Andoni, Tala论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, London, England Inst Canc Res, London, EnglandWiggins, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Royal Marsden Hosp, London, England Inst Canc Res, London, EnglandRobinson, Rachel论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Genet Lab, Leeds, W Yorkshire, England Inst Canc Res, London, EnglandCharlton, Ruth论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Genet Lab, Leeds, W Yorkshire, England Inst Canc Res, London, EnglandSandberg, Michael论文数: 0 引用数: 0 h-index: 0机构: 90 Sloane St, London, England Inst Canc Res, London, EnglandEeles, Rosalind论文数: 0 引用数: 0 h-index: 0机构: Inst Canc Res, London, England Inst Canc Res, London, England
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