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- [1] De novo damaging variants associated with congenital heart diseases contribute to the connectomeSCIENTIFIC REPORTS, 2020, 10 (01)Ji, Weizhen论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Pediat, New Haven, CT 06510 USAFerdman, Dina论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Pediat, New Haven, CT 06510 USACopel, Joshua论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Obstet Gynecol & Reprod Sci, New Haven, CT USA Dept Pediat, New Haven, CT 06510 USAScheinost, Dustin论文数: 0 引用数: 0 h-index: 0机构: Dept Radiol & Biomed Imaging, New Haven, CT USA Dept Pediat, New Haven, CT 06510 USAShabanova, Veronika论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Pediat, New Haven, CT 06510 USABrueckner, Martina论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Genet, New Haven, CT USA Yale Combined Program Biol & Biomed Sci, New Haven, CT USA Dept Pediat, New Haven, CT 06510 USAKhokha, Mustafa K.论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Dept Genet, New Haven, CT USA Dept Pediat, New Haven, CT 06510 USAMent, Laura R.论文数: 0 引用数: 0 h-index: 0机构: Dept Pediat, New Haven, CT 06510 USA Yale Sch Med, Neurol, 333 Cedar St, New Haven, CT 06510 USA Dept Pediat, New Haven, CT 06510 USA
- [2] De novo damaging variants associated with congenital heart diseases contribute to the connectomeScientific Reports, 10Weizhen Ji论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Dina Ferdman论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Joshua Copel论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Dustin Scheinost论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Veronika Shabanova论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Martina Brueckner论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Mustafa K. Khokha论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,Laura R. Ment论文数: 0 引用数: 0 h-index: 0机构: Departments of Pediatrics,
- [3] Unraveling De Novo Copy Number Variants in Congenital Heart Defects The Bottom of the Iceberg Is Under AttackCIRCULATION-CARDIOVASCULAR GENETICS, 2016, 9 (01) : 4 - 5Bouvagnet, Patrice论文数: 0 引用数: 0 h-index: 0机构: CNRS, INSERM, U1217, Lab Cardiogenet,INMG,UMR 5310, Lyon, France Univ Lyon 1, F-69365 Lyon, France Hosp Civils Lyon, Lab Cardiogenet, F-69365 Lyon, France CNRS, INSERM, U1217, Lab Cardiogenet,INMG,UMR 5310, Lyon, France
- [4] Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart DefectsPEDIATRIC CARDIOLOGY, 2018, 39 (05) : 924 - 940Hussein, Ibtessam R.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaBader, Rima S.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ Hosp, Pediat Cardiol Dept, Jeddah, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaChaudhary, Adeel G.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Fac Med Sci, Jeddah, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaBassiouni, Randa论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Children Hosp, At Taif, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaAlquaiti, Maha论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaAshgan, Fai论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaSchulten, Hans-Juergen论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi ArabiaAl Qahtani, Mohammad H.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Fac Med Sci, Jeddah, Saudi Arabia King Abdulaziz Univ, CEGMR, King Fahd Med Res Ctr, Jeddah 21589, Saudi Arabia
- [5] Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart DefectsPediatric Cardiology, 2018, 39 : 924 - 940Ibtessam R. Hussein论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreRima S. Bader论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreAdeel G. Chaudhary论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreRanda Bassiouni论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreMaha Alquaiti论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreFai Ashgan论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreHans-Juergen Schulten论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research CentreMohammad H. Al Qahtani论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz University,Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research Centre
- [6] Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or ObesityCIRCULATION-GENOMIC AND PRECISION MEDICINE, 2022, 15 (02): : 113 - 120Morton, Sarah U.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAPereira, Alexandre C.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAQuiat, Daniel论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USARichter, Felix论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Grad Sch Biomed Sci, New York, NY 10029 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USA论文数: 引用数: h-index:机构:Hagen, Jacob论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, Med Ctr, New York, NY USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Goldmuntz, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pediat, Div Cardiol,Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAKim, Richard W.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USALifton, Richard P.论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, Lab Human Genet & Genom, 1230 York Ave, New York, NY 10021 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAPorter, George A., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Pediat, Sch Med & Dent, Rochester, NY 14642 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USATristani-Firouzi, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Div Pediat Cardiol, Salt Lake City, UT USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, New York, NY USA Columbia Univ, Dept Med, Med Ctr, New York, NY USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USARoberts, Amy论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAGelb, Bruce D.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Pediat, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USAShen, Yufeng论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Syst Biol, Med Ctr, New York, NY USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USANewburger, Jane W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USASeidman, J. G.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USASeidman, Christine E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Dept Genet, Boston, MA 02115 USA Brigham & Womens Hosp, Cardiovasc Div, 75 Francis St, Boston, MA 02115 USA Howard Hughes Med Inst, Chevy Chase, MD USA Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA USA
- [7] De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseHuman Genetics, 2016, 135 : 1399 - 1409Lijiang Ma论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsYavuz Bayram论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsHeather M. McLaughlin论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsMegan T. Cho论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsAlyson Krokosky论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsClesson E. Turner论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsKristin Lindstrom论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsCaleb P. Bupp论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsKatey Mayberry论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsWeiyi Mu论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsJoann Bodurtha论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsVeronique Weinstein论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsNeda Zadeh论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsWendy Alcaraz论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsZöe Powis论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsYunru Shao论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsDaryl A. Scott论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsAndrea M. Lewis论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsJanson J. White论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsShalani N. Jhangiani论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsElif Yilmaz Gulec论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsSeema R. Lalani论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsJames R. Lupski论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsKyle Retterer论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsRhonda E. Schnur论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsIngrid M. Wentzensen论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsSherri Bale论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of PediatricsWendy K. Chung论文数: 0 引用数: 0 h-index: 0机构: Columbia University Medical Center,Department of Pediatrics
- [8] De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseHUMAN GENETICS, 2016, 135 (12) : 1399 - 1409Ma, Lijiang论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USABayram, Yavuz论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAMcLaughlin, Heather M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USACho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAKrokosky, Alyson论文数: 0 引用数: 0 h-index: 0机构: Walter Reed Natl Mil Med Ctr, Bethesda, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USATurner, Clesson E.论文数: 0 引用数: 0 h-index: 0机构: Walter Reed Natl Mil Med Ctr, Bethesda, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USALindstrom, Kristin论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USABupp, Caleb P.论文数: 0 引用数: 0 h-index: 0机构: Spectrum Hlth, Grand Rapids, MI USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAMayberry, Katey论文数: 0 引用数: 0 h-index: 0机构: Spectrum Hlth, Grand Rapids, MI USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAMu, Weiyi论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USABodurtha, Joann论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAWeinstein, Veronique论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Div Genet & Metab, Washington, DC 20010 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAZadeh, Neda论文数: 0 引用数: 0 h-index: 0机构: Genet Ctr, Orange, CA USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAAlcaraz, Wendy论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAPowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAShao, Yunru论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAScott, Daryl 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, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USALewis, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAWhite, Janson J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAJhangiani, Shalani N.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, Human Genome Sequencing Ctr, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAGulec, Elif Yilmaz论文数: 0 引用数: 0 h-index: 0机构: Kanuni Sultan Suleyman Training & Res Hosp, Med Genet Sect, Istanbul, Turkey Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USALalani, Seema 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 Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 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, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USARetterer, Kyle论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USASchnur, Rhonda E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAWentzensen, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USA Columbia Univ, Med Ctr, Dept Pediat, 1150 St Nicholas Ave, New York, NY 10032 USA
- [9] De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsHUMAN MOLECULAR GENETICS, 2017, 26 (24) : 4849 - 4860Slavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USARisolino, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Program Craniofacial Biol, Dept Orofacial Sci, San Francisco, CA USA Univ Calif San Francisco, Dept Anat, Program Craniofacial Biol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USALosa, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Program Craniofacial Biol, Dept Orofacial Sci, San Francisco, CA USA Univ Calif San Francisco, Dept Anat, Program Craniofacial Biol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USACho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USASchneidman-Duhovny, Dina论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Sch Comp Sci & Engn, Jerusalem, Israel Hebrew Univ Jerusalem, Dept Biochem, Inst Life Sci, Jerusalem, Israel Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAParisotto, Sarah论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Dept Pediat, Div Genet, Hackensack, NJ USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAHerkert, Johanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Genet, Nijmegen, Netherlands Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAMiller, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Dept Pediat, Albany, NY USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAShur, Natasha论文数: 0 引用数: 0 h-index: 0机构: Albany Med Ctr, Dept Pediat, Albany, NY USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAChui, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: CPMC, Stanford Childrens Hlth, Clin Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAMuller, Eric论文数: 0 引用数: 0 h-index: 0机构: CPMC, Stanford Childrens Hlth, Clin Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USADeBrosse, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USASzot, Justin O.论文数: 0 引用数: 0 h-index: 0机构: Victor Chang Cardiac Res Inst, Dev & Stem Cell Biol Div, Sydney, NSW, Australia Univ New South Wales, Sydney, NSW, Australia Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAChapman, Gavin论文数: 0 引用数: 0 h-index: 0机构: Victor Chang Cardiac Res Inst, Dev & Stem Cell Biol Div, Sydney, NSW, Australia Univ New South Wales, Sydney, NSW, Australia Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAPachter, Nicholas S.论文数: 0 引用数: 0 h-index: 0机构: King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA, Australia Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAWinlaw, David S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Med Sch, Sydney, NSW, Australia Childrens Hosp Westmead, Heart Ctr Children, Sydney, NSW, Australia Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAMendelsohn, Bryce A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USADalton, Joline论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Paul & Shelia Wellstone Muscular Dystrophy Ctr, Minneapolis, MN USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USASarafoglou, Kyriakie论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Mason Childrens Hosp, Minneapolis, MN 55455 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAKarachunski, Peter I.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USALewis, Jane M.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Urol, Mason Childrens Hosp, Minneapolis, MN USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAPedro, Helio论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Dept Pediat, Div Genet, Hackensack, NJ USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USADunwoodie, Sally L.论文数: 0 引用数: 0 h-index: 0机构: Victor Chang Cardiac Res Inst, Dev & Stem Cell Biol Div, Sydney, NSW, Australia Univ New South Wales, Sydney, NSW, Australia Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USASelleri, Licia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Program Craniofacial Biol, Dept Orofacial Sci, San Francisco, CA USA Univ Calif San Francisco, Dept Anat, Program Craniofacial Biol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USAShieh, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, RH384C,1550 4th St, San Francisco, CA 94143 USA
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