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- [1] Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (05) : 842 - 845German, Kendell论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USADeutsch, Gail H.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Dept Pathol, Seattle, WA USA Univ Washington, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USAFreed, Amanda S.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USADipple, Katrina M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Clin & Translat Res, Seattle, WA USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USAChabra, Shilpi论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USABennett, James T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Dev Biol & Regenerat Med, Seattle, WA USA Univ Washington, Dept Pediat, Box 356320,RR542 HSB, Seattle, WA 98195 USA
- [2] Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (02) : 213 - 228Karolak, Justyna 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 Poznan Univ Med Sci, Dept Genet & Pharmaceut Microbiol, PL-60781 Poznan, Poland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVincent, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, France Univ Nantes, INSERM, CNRS, Inst Thorax, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADeutsch, Gail论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Dept Pathol, Seattle, WA 98105 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Cogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, France Univ Nantes, INSERM, CNRS, Inst Thorax, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPichon, Olivier论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVetrini, Francesco论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADines, Jennifer N.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGolden-Grant, Katie论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Med Genet, Seattle, WA 98105 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADipple, Katrina论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Hosp, Div Med Genet, Seattle, WA 98105 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAFreed, Amanda S.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALeppig, Kathleen A.论文数: 0 引用数: 0 h-index: 0机构: Genet Serv Kaiser Permanente Washington, Seattle, WA 98112 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADishop, Megan论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Pathol & Lab Med, Phoenix, AZ 85016 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMowat, David论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Clin Genet Ctr, Randwick Sydney, NSW 2031, Australia Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW 2052, Australia Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Gifford, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Womens & Childrens Hlth, Sydney, NSW 2052, Australia Prince Wales Hosp, Dept Anat Pathol, Randwick, NSW 2031, Australia Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWeber, Martin A.论文数: 0 引用数: 0 h-index: 0机构: Prince Wales Hosp, Dept Anat Pathol, Randwick, NSW 2031, Australia Univ New South Wales, Sch Med Sci, Sydney, NSW 2052, Australia Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, Anna F.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 2B5, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABoerkoel, Cornelius F.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABartell, Tina M.论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Sacramento Med Ctr, Dept Genet, Sacramento, CA 95815 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWard-Melver, Catherine论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Div Med Genet, Akron, OH 44302 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Petit, Florence论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Genet Clin, F-59000 Lille, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABache, Iben论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Cellular & Mol Med, DK-2200 Copenhagen N, Denmark Rigshosp, Dept Clin Genet, Copenhagen Univ Hosp, DK-2100 Copenhagen O, Denmark Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USATumer, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Kennedy Ctr, Dept Clin Genet, Copenhagen Univ Hosp, DK-2600 Copenhagen, Denmark Univ Copenhagen, Deparment Clin Med, Fac Hlth & Med Sci, DK-2200 Copenhagen N, Denmark Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADenis-Musquer, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Anatomopathol, F-44093 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJoubert, Madeleine论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Anatomopathol, F-44093 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMartinovic, Jelena论文数: 0 引用数: 0 h-index: 0机构: Antoine Beclere Hosp, AP HP, Unit Fetal Pathol, F-75000 Paris, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Molin, Arnaud论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Med, F-14000 Caen, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACarles, Dominique论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Anatomopathol, F-33000 Bordeaux, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAAndre, Gwenaelle论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Anatomopathol, F-33000 Bordeaux, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABieth, Eric论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Serv Genet Med, Toulouse, France Univ Toulouse, UDEAR, UMR 1056, INSERM, F-31000 Toulouse, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChassaing, Nicolas论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Serv Genet Med, Toulouse, France Univ Toulouse, UDEAR, UMR 1056, INSERM, F-31000 Toulouse, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADevisme, Louise论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Inst Pathol, F-59000 Lille, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChalabreysse, Lara论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Serv Anatomopathol, F-69000 Lyon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPasquier, Laurent论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Med, F-35000 Rennes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASecq, Veronique论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Hop Nord, APHM, Serv Anatomopathol, F-13000 Marseille, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADon, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: St Antonio Gen Hosp, Pediat Care Unit, I-33100 Udine, Italy Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAOrsaria, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Udine, Dept Med & Biol Sci, Pathol Unit, Udine, Italy Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMissirian, Chantal论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Hosp, APHM, INSERM,MMG, F-13000 Marseille, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMortreux, Jeremie论文数: 0 引用数: 0 h-index: 0机构: Aix Marseille Univ, Timone Hosp, APHM, INSERM,MMG, F-13000 Marseille, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASanlaville, Damien论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, GHE, Dept Genet, F-69000 Lyon, France Lyon Univ, F-69000 Lyon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPons, Linda论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, GHE, Dept Genet, F-69000 Lyon, France Lyon Univ, F-69000 Lyon, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKury, Sebastien论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, France Univ Nantes, INSERM, CNRS, Inst Thorax, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, France Univ Nantes, INSERM, CNRS, Inst Thorax, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALiet, Jean-Michel论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Reanimat Pediat, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJoram, Nicolas论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Reanimat Pediat, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABihouee, Tiphaine论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Pediat, F-44000 Nantes, France Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [3] Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (03) : 454 - 461Ballif, Blake C.论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USATheisen, Aaron论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USATraylor, Ryan N.论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USA论文数: 引用数: h-index:机构:Thrush, Devon Lamb论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Lab Med, Columbus, OH 43209 USA Ohio State Univ, Dept Pediat, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USAAstbury, Caroline论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Lab Med, Columbus, OH 43209 USA Ohio State Univ, Dept Pediat, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USABartholomew, Dennis论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Columbus, OH 43209 USA Nationwide Childrens Hosp, Genet Sect, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USAMcBride, Kim L.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Columbus, OH 43209 USA Nationwide Childrens Hosp, Res Inst, Ctr Mol & Human Genet, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USAPyatt, Robert E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Lab Med, Columbus, OH 43209 USA Ohio State Univ, Dept Pathol, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USAShane, Kate论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pediat, Columbus, OH 43209 USA Nationwide Childrens Hosp, Genet Sect, Columbus, OH 43209 USA Signature Genom Labs, Spokane, WA 99207 USASmith, Wendy E.论文数: 0 引用数: 0 h-index: 0机构: Maine Pediat Specialty Grp, Dept Pediat, Portland, ME 04102 USA Signature Genom Labs, Spokane, WA 99207 USABanks, Valerie论文数: 0 引用数: 0 h-index: 0机构: Maine Pediat Specialty Grp, Dept Pediat, Portland, ME 04102 USA Signature Genom Labs, Spokane, WA 99207 USAGallentine, William B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Signature Genom Labs, Spokane, WA 99207 USABrock, Pamela论文数: 0 引用数: 0 h-index: 0机构: Univ Louisville, Weisskopf Child Evaluat Ctr, Louisville, KY 40202 USA Signature Genom Labs, Spokane, WA 99207 USARudd, M. Katharine论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Signature Genom Labs, Spokane, WA 99207 USAAdam, Margaret P.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Signature Genom Labs, Spokane, WA 99207 USAKeene, Julia A.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Signature Genom Labs, Spokane, WA 99207 USAPhillips, John A., III论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA Signature Genom Labs, Spokane, WA 99207 USAPfotenhauer, Jean P.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Div Genet & Genom Med, Nashville, TN 37232 USA Signature Genom Labs, Spokane, WA 99207 USAGowans, Gordon C.论文数: 0 引用数: 0 h-index: 0机构: Univ Louisville, Weisskopf Child Evaluat Ctr, Louisville, KY 40202 USA Signature Genom Labs, Spokane, WA 99207 USAStankiewicz, Pawel论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Human & Mol Genet, Houston, TX 77030 USA Inst Mother & Child Hlth, Dept Med Genet, PL-01211 Warsaw, Poland Signature Genom Labs, Spokane, WA 99207 USABejjani, Bassem A.论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USAShaffer, Lisa G.论文数: 0 引用数: 0 h-index: 0机构: Signature Genom Labs, Spokane, WA 99207 USA Signature Genom Labs, Spokane, WA 99207 USA
- [4] Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins[J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2010, 35 (01) : 113 - 116Chen, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USAUrsell, P. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USAAdatia, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Pediat Pulm Hypertens Clin, Edmonton, AB, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USAHislop, A. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London, England Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USAGiannikopoulos, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USAHornberger, L. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Fetal & Neonatal Cardiol Program, Edmonton, AB, Canada Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA