241
Discovering the Function of CHD Genes
Assay for Entry into Cilia Reveals Unique Properties of the
Soluble Diffusion Barrier.” Journal of Cell Biology 203 (1):
129–147. https://doi.org/10.1083/jcb.201212024 .
Brown, Daniel D., Shauna N. Martz, Olav Binder, Sarah C. Goetz,
Brenda M.J. Price, Jim C. Smith, and Frank L. Conlon. 2005.
“Tbx5 and Tbx20 Act Synergistically to Control Vertebrate
Heart Morphogenesis.” Development 132 (3): 553–563.
https://doi.org/10.1242/dev.01596 .
Buckingham, Margaret, Sigolène Meilhac, and Stéphane Zaffran.
2005. “Building the Mammalian Heart from Two Sources
of Myocardial Cells.” Nature Reviews Genetics 6 (11): 826–
835. https://doi.org/10.1038/nrg1710 .
Castañeda, Aldo. 2005. “Congenital Heart Disease: A SurgicalHistorical Perspective.” Annals of Thoracic Surgery 79 (6):
0–3. https://doi.org/10.1016/j.athoracsur.2005.03.031 .
Castaneda, Aldo R., William I. Norwood, Richard A. Jonas,
Steve D. Colon, Stephen P. Sanders, and Peter Lang. 1984.
“Transposition of the Great Arteries and Intact Ventricular
Septum: Anatomical Repair in the Neonate.” Annals of
Thoracic Surgery 38 (5): 438–443. https://doi.org/10.1016/
S0003-4975(10)64181-1 .
Chapman, Deborah L., Nancy Garvey, Sarah Hancock, Maria
Alexiou, Sergei I. Agulnik, Jeremy J. Gibson-Brown, Judith
Cebra-Thomas, Roni J. Bollag, Lee M. Silver, and Virginia
E. Papaioannou. 1996. “Expression of the T-Box Family
Genes, Tbx1-Tbx5, during Early Mouse Development.”
Developmental Dynamics 206 (4): 379–390. https://doi.
org/10.1002/(SICI)1097-0177(199608)206:4<379::AIDAJA4>3.0.CO;2-F .
Christianson, Arnold, Christopher P. Howson, and Bernadette
Modell. 2006. “March of Dimes: Global Report on Birth
Defects.” In March of Dimes Birth Defects Foundation.
White Plains, New York.
Cleaver, Ondine B., Kristin D. Patterson, and Paul A. Krieg. 1996.
“Overexpression of the Tinman-Related Genes XNkx-2.5
and XNkx-2.3 in Xenopus Embryos Results in Myocardial
Hyperplasia.” Development 122 (11): 3549–3556.
Crafoord, Clarence, and G. Nylin. 1945. “Congenital Coarctation
of the Aorta and Its Surgical Treatment.” Journal of
Thoracic Surgery 14 (5): 347–361. https://doi.org/10.1016/
s0096-5588(20)31801-8 .
Deniz, Engin, Stephan Jonas, Michael Hooper, John N. Griff n,
Michael A. Choma, and Mustafa K. Khokha. 2017. “Analysis
of Craniocardiac Malformations in Xenopus Using Optical
Coherence Tomography.” Scientif c Reports 7: 1–13. https://
doi.org/10.1038/srep42506 .
Desgrange, Audrey, Jean-François Le Garrec, and Sigolène M.
Meilhac. 2018. “Left-Right Asymmetry in Heart Development
and Disease: Forming the Right Loop.” Development 145
(22): dev162776. https://doi.org/10.1242/dev.162776 .
Dorsky, Richard I., Randall T. Moon, and David W. Raible. 1998.
“Control of Neural Crest Cell Fate by the Wnt Signalling
Pathway.” Nature 396 (6709): 370–372. https://doi.org/10.
1038/24620.
Durocher, Daniel, Robert J Schwartz, and Mona Nemer. 1997. “The
Cardiac Transcription Factors Nkx2–5 and GATA-4.” The
EMBO Journal 16 (18): 5687–5696. https://doi.org/10.1093/
emboj/16.18.5687
Fagotto, François, Ursula Glück, and Barry M. Gumbiner. 1998.
“Nuclear Localization Signal-Independent and Importin/
Karyopherin-Independent Nuclear Import of β-Catenin.”
Current Biology 8 (4): 181–190. https://doi.org/10.1016/
s0960-9822(98)70082-x .
Fakhro, K. A., M. Choi, S. M. Ware, J. W. Belmont, J. A.
Towbin, R. P. Lifton, M. K. Khokha, and M. Brueckner.
2011. “Rare Copy Number Variations in Congenital Heart
Disease Patients Identify Unique Genes in Left-Right
Patterning.” Proceedings of the National Academy of
Sciences 108 (7): 2915–2920. https://doi.org/10.1073/pnas.
1019645108.
Fenderson, Lewis H., and Don Miller. 1971. Daniel Hale Williams:
Open Heart Doctor. New York: McGraw-Hill and Rutledge
Books.
Geetha, Thenral S., Lokesh Lingappa, Abhishek Ravindra Jain,
Hridya Govindan, Nitin Mandloi, Sakthivel Murugan, Ravi
Gupta, and Ramprasad Vedam. 2018. “A Novel Splice
Variant in EMC1 Is Associated with Cerebellar Atrophy,
Visual Impairment, Psychomotor Retardation with Epilepsy.”
Molecular Genetics and Genomic Medicine 6 (2): 282–287.
https://doi.org/10.1002/mgg3.352 .
Gelb, Bruce D. 2015. “History of Our Understanding of the Causes of
Congenital Heart Disease.” Circulation: Cardiovascular Genetics
8 (3): 529–536. https://doi.org/10.1161/CIRCGENETICS.
115.001058.
Gessert, Susanne, and Michael Kühl. 2009. “Comparative Gene
Expression Analysis and Fate Mapping Studies Suggest an
Early Segregation of Cardiogenic Lineages in Xenopus laevis.” Developmental Biology 334 (2): 395–408. https://doi.
org/10.1016/j.ydbio.2009.07.037 .
Gibson-Brown, Jeremy J., Sergei I. Agulnik, Deborah L.
Chapman, Maria Alexiou, Nancy Garvey, Silver M. Lee,
and Virginia E. Papaioannou. 1996. “Evidence of a Role
for T-Box Genes in the Evolution of Limb Morphogenesis
and the Specifcation of Forelimb/Hindlimb Identity.”
Mechanisms of Development 56 (1–2): 93–101. https://doi.
org/10.1016/0925-4773(96)00514-X .
Griffn, John N., Florencia del Viso, Anna R. Duncan, Andrew
Robson, Woong Hwang, Saurabh Kulkarni, Karen J. Liu, and
Mustafa K. Khokha. 2018. “RAPGEF5 Regulates Nuclear
Translocation of β-Catenin.” Developmental Cell 44 (2):
248–260.e4. https://doi.org/10.1016/j.devcel.2017.12.001 .
Griffn, Kevin J.P., Sharon L. Amacher, Charles B. Kimmel,
and David Kimelman. 1998. “Molecular Identif cation of
Spadetail: Regulation of Zebrafsh Trunk and Tail Mesoderm
Formation by T-Box Genes.” Development 125 (17):
3379–3388.
Griffn, K.J.P., J. Stoller, M. Gibson, S. Chen, D. Yelon, D.Y.R.
Stainier, and D. Kimelman. 2000. “A Conserved Role for
H15-Related T-Box Transcription Factors in Zebraf sh and
Drosophila Heart Formation.” Developmental Biology 218
(2): 235–247. https://doi.org/10.1006/dbio.1999.9571 .
Gross, Robert E., and John P. Hubbard. 1939. “Surgical Ligation
of a Patent Ductus Arteriosus.” Journal of the American
Medical Association 112 (8): 729. https://doi.org/10.1001/
jama.1939.02800080049011 .
Grossfeld, Paul D., Teresa Mattina, Zona Lai, Remi Favier, Ken
Lyons Jones, Finbarr Cotter, and Christopher Jones. 2004.
“The 11q Terminal Deletion Disorder: A Prospective Study
of 110 Cases.” American Journal of Medical Genetics 129 A
(1): 51–61. https://doi.org/10.1002/ajmg.a.30090 .
Harel, Tamar, Gozde Yesil, Yavuz Bayram, Zeynep Coban-Akdemir,
Wu Lin Charng, Ender Karaca, Ali Al Asmari, et al. 2016.
“Monoallelic and Biallelic Variants in EMC1 Identif ed in
Individuals with Global Developmental Delay, Hypotonia,
Scoliosis, and Cerebellar Atrophy.” American Journal of
Human Genetics 98 (3): 562–570. https://doi.org/10.1016/j.
ajhg.2016.01.011 .
Hashizume, Chieko, Akane Moyori, Akiko Kobayashi, Nana
Yamakoshi, Aoi Endo, and Richard W. Wong. 2013.
“Nucleoporin Nup62 Maintains Centrosome Homeostasis.”
Discovering the Function of CHD Genes
Assay for Entry into Cilia Reveals Unique Properties of the
Soluble Diffusion Barrier.” Journal of Cell Biology 203 (1):
129–147. https://doi.org/10.1083/jcb.201212024 .
Brown, Daniel D., Shauna N. Martz, Olav Binder, Sarah C. Goetz,
Brenda M.J. Price, Jim C. Smith, and Frank L. Conlon. 2005.
“Tbx5 and Tbx20 Act Synergistically to Control Vertebrate
Heart Morphogenesis.” Development 132 (3): 553–563.
https://doi.org/10.1242/dev.01596 .
Buckingham, Margaret, Sigolène Meilhac, and Stéphane Zaffran.
2005. “Building the Mammalian Heart from Two Sources
of Myocardial Cells.” Nature Reviews Genetics 6 (11): 826–
835. https://doi.org/10.1038/nrg1710 .
Castañeda, Aldo. 2005. “Congenital Heart Disease: A SurgicalHistorical Perspective.” Annals of Thoracic Surgery 79 (6):
0–3. https://doi.org/10.1016/j.athoracsur.2005.03.031 .
Castaneda, Aldo R., William I. Norwood, Richard A. Jonas,
Steve D. Colon, Stephen P. Sanders, and Peter Lang. 1984.
“Transposition of the Great Arteries and Intact Ventricular
Septum: Anatomical Repair in the Neonate.” Annals of
Thoracic Surgery 38 (5): 438–443. https://doi.org/10.1016/
S0003-4975(10)64181-1 .
Chapman, Deborah L., Nancy Garvey, Sarah Hancock, Maria
Alexiou, Sergei I. Agulnik, Jeremy J. Gibson-Brown, Judith
Cebra-Thomas, Roni J. Bollag, Lee M. Silver, and Virginia
E. Papaioannou. 1996. “Expression of the T-Box Family
Genes, Tbx1-Tbx5, during Early Mouse Development.”
Developmental Dynamics 206 (4): 379–390. https://doi.
org/10.1002/(SICI)1097-0177(199608)206:4<379::AIDAJA4>3.0.CO;2-F .
Christianson, Arnold, Christopher P. Howson, and Bernadette
Modell. 2006. “March of Dimes: Global Report on Birth
Defects.” In March of Dimes Birth Defects Foundation.
White Plains, New York.
Cleaver, Ondine B., Kristin D. Patterson, and Paul A. Krieg. 1996.
“Overexpression of the Tinman-Related Genes XNkx-2.5
and XNkx-2.3 in Xenopus Embryos Results in Myocardial
Hyperplasia.” Development 122 (11): 3549–3556.
Crafoord, Clarence, and G. Nylin. 1945. “Congenital Coarctation
of the Aorta and Its Surgical Treatment.” Journal of
Thoracic Surgery 14 (5): 347–361. https://doi.org/10.1016/
s0096-5588(20)31801-8 .
Deniz, Engin, Stephan Jonas, Michael Hooper, John N. Griff n,
Michael A. Choma, and Mustafa K. Khokha. 2017. “Analysis
of Craniocardiac Malformations in Xenopus Using Optical
Coherence Tomography.” Scientif c Reports 7: 1–13. https://
doi.org/10.1038/srep42506 .
Desgrange, Audrey, Jean-François Le Garrec, and Sigolène M.
Meilhac. 2018. “Left-Right Asymmetry in Heart Development
and Disease: Forming the Right Loop.” Development 145
(22): dev162776. https://doi.org/10.1242/dev.162776 .
Dorsky, Richard I., Randall T. Moon, and David W. Raible. 1998.
“Control of Neural Crest Cell Fate by the Wnt Signalling
Pathway.” Nature 396 (6709): 370–372. https://doi.org/10.
1038/24620.
Durocher, Daniel, Robert J Schwartz, and Mona Nemer. 1997. “The
Cardiac Transcription Factors Nkx2–5 and GATA-4.” The
EMBO Journal 16 (18): 5687–5696. https://doi.org/10.1093/
emboj/16.18.5687
Fagotto, François, Ursula Glück, and Barry M. Gumbiner. 1998.
“Nuclear Localization Signal-Independent and Importin/
Karyopherin-Independent Nuclear Import of β-Catenin.”
Current Biology 8 (4): 181–190. https://doi.org/10.1016/
s0960-9822(98)70082-x .
Fakhro, K. A., M. Choi, S. M. Ware, J. W. Belmont, J. A.
Towbin, R. P. Lifton, M. K. Khokha, and M. Brueckner.
2011. “Rare Copy Number Variations in Congenital Heart
Disease Patients Identify Unique Genes in Left-Right
Patterning.” Proceedings of the National Academy of
Sciences 108 (7): 2915–2920. https://doi.org/10.1073/pnas.
1019645108.
Fenderson, Lewis H., and Don Miller. 1971. Daniel Hale Williams:
Open Heart Doctor. New York: McGraw-Hill and Rutledge
Books.
Geetha, Thenral S., Lokesh Lingappa, Abhishek Ravindra Jain,
Hridya Govindan, Nitin Mandloi, Sakthivel Murugan, Ravi
Gupta, and Ramprasad Vedam. 2018. “A Novel Splice
Variant in EMC1 Is Associated with Cerebellar Atrophy,
Visual Impairment, Psychomotor Retardation with Epilepsy.”
Molecular Genetics and Genomic Medicine 6 (2): 282–287.
https://doi.org/10.1002/mgg3.352 .
Gelb, Bruce D. 2015. “History of Our Understanding of the Causes of
Congenital Heart Disease.” Circulation: Cardiovascular Genetics
8 (3): 529–536. https://doi.org/10.1161/CIRCGENETICS.
115.001058.
Gessert, Susanne, and Michael Kühl. 2009. “Comparative Gene
Expression Analysis and Fate Mapping Studies Suggest an
Early Segregation of Cardiogenic Lineages in Xenopus laevis.” Developmental Biology 334 (2): 395–408. https://doi.
org/10.1016/j.ydbio.2009.07.037 .
Gibson-Brown, Jeremy J., Sergei I. Agulnik, Deborah L.
Chapman, Maria Alexiou, Nancy Garvey, Silver M. Lee,
and Virginia E. Papaioannou. 1996. “Evidence of a Role
for T-Box Genes in the Evolution of Limb Morphogenesis
and the Specifcation of Forelimb/Hindlimb Identity.”
Mechanisms of Development 56 (1–2): 93–101. https://doi.
org/10.1016/0925-4773(96)00514-X .
Griffn, John N., Florencia del Viso, Anna R. Duncan, Andrew
Robson, Woong Hwang, Saurabh Kulkarni, Karen J. Liu, and
Mustafa K. Khokha. 2018. “RAPGEF5 Regulates Nuclear
Translocation of β-Catenin.” Developmental Cell 44 (2):
248–260.e4. https://doi.org/10.1016/j.devcel.2017.12.001 .
Griffn, Kevin J.P., Sharon L. Amacher, Charles B. Kimmel,
and David Kimelman. 1998. “Molecular Identif cation of
Spadetail: Regulation of Zebrafsh Trunk and Tail Mesoderm
Formation by T-Box Genes.” Development 125 (17):
3379–3388.
Griffn, K.J.P., J. Stoller, M. Gibson, S. Chen, D. Yelon, D.Y.R.
Stainier, and D. Kimelman. 2000. “A Conserved Role for
H15-Related T-Box Transcription Factors in Zebraf sh and
Drosophila Heart Formation.” Developmental Biology 218
(2): 235–247. https://doi.org/10.1006/dbio.1999.9571 .
Gross, Robert E., and John P. Hubbard. 1939. “Surgical Ligation
of a Patent Ductus Arteriosus.” Journal of the American
Medical Association 112 (8): 729. https://doi.org/10.1001/
jama.1939.02800080049011 .
Grossfeld, Paul D., Teresa Mattina, Zona Lai, Remi Favier, Ken
Lyons Jones, Finbarr Cotter, and Christopher Jones. 2004.
“The 11q Terminal Deletion Disorder: A Prospective Study
of 110 Cases.” American Journal of Medical Genetics 129 A
(1): 51–61. https://doi.org/10.1002/ajmg.a.30090 .
Harel, Tamar, Gozde Yesil, Yavuz Bayram, Zeynep Coban-Akdemir,
Wu Lin Charng, Ender Karaca, Ali Al Asmari, et al. 2016.
“Monoallelic and Biallelic Variants in EMC1 Identif ed in
Individuals with Global Developmental Delay, Hypotonia,
Scoliosis, and Cerebellar Atrophy.” American Journal of
Human Genetics 98 (3): 562–570. https://doi.org/10.1016/j.
ajhg.2016.01.011 .
Hashizume, Chieko, Akane Moyori, Akiko Kobayashi, Nana
Yamakoshi, Aoi Endo, and Richard W. Wong. 2013.
“Nucleoporin Nup62 Maintains Centrosome Homeostasis.”