Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Cell tracking using a photoconvertible fluorescent protein

Hatta, K., Tsujii, H., & Omura, T. (2006) · Nature Protocols · doi:10.1038/nprot.2006.96 · Cited by 210

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Warthen, D., Moore, E., Kamath, B., et al. (2006) · Human Mutation · doi:10.1002/humu.20310 · Cited by 206

CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

Goldmuntz, E., Bamford, R. N., Karkera, J. D., Cruz-Racelis, J. D., Roessler, E., & Muenke, M. (2002) · The American Journal of Human Genetics · doi:10.1086/339079 · Cited by 204

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

Smemo, S., Campos, L. C. G., Moskowitz, I. P. G., Krieger, J. E., Pereira, A. C., & Nóbrega, M. A. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds165 · Cited by 204

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Oberstein, S. A. J. L., Kriek, M., White, S. J., Kalf, M. E., Szuhai, K., den Dunnen, J. T., Breuning, M. H., & Hennekam, R. C. M. (2006) · The American Journal of Human Genetics · doi:10.1086/507567 · Cited by 204

Genetics of Congenital Heart Disease

Richards, A. A., & Garg, V. (2010) · Current Cardiology Reviews · doi:10.2174/157340310791162703 · Cited by 203

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

Stone, D. L., Slavotinek, A. M., Bouffard, G. G., Banerjee‐Basu, S., Baxevanis, A. D., Barr, M., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/75637 · Cited by 201

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Onoufriadis, A., Paff, T., Antony, D., Shoemark, A., Micha, D., Kuyt, B., Schmidts, M., Petridi, S., Dankert-Roelse, J. E., Haarman, E. G., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.11.002 · Cited by 199

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

Duriez, B., Duquesnoy, P., Escudier, E. F., Bridoux, A.-M., Escalier, D., Rayet, I., Marcos, É., Vojtek, A.-M., Bercher, J., & Amselem, S. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0611405104 · Cited by 198

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Zariwala, M. A., Gee, H. Y., Kurkowiak, M., Al-Mutairi, D. A., Leigh, M. W., Hurd, T. W., Hjeij, R., Dell, S., Chaki, M., Dougherty, G. W., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.007 · Cited by 198

Genetics and biology of primary ciliary dyskinesia

Horani, A., Ferkol, T. W., Dutcher, S. K., & Brody, S. L. (2016) · Paediatric Respiratory Reviews · doi:10.1016/j.prrv.2015.09.001 · Cited by 197

Mutations of DNAI1 in Primary Ciliary Dyskinesia

Zariwala, M. A., Leigh, M. W., Ceppa, F., Kennedy, M. P., Noone, P. G., Carson, J. L., Hazucha, M. J., Lori, A., Horvath, J. E., Olbrich, H., et al. (2006) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.200603-370oc · Cited by 196

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Bernier, R., Steinman, K. J., Reilly, B., Wallace, A. S., Sherr, E. H., Pojman, N. J., Mefford, H. C., Gerdts, J., Earl, R. K., Hanson, E. M., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.78 · Cited by 195

Update on the clinical features and natural history of Wolf–Hirschhorn (4p‐) syndrome: Experience with 87 patients and recommendations for routine health supervision

Battaglia, A., Filippi, T., & Carey, J. C. (2008) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30187 · Cited by 194

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Hannibal, M., Buckingham, K. J., Ng, S. B. H., Ming, J. E., Beck, A. E., McMillin, M. J., Gildersleeve, H. I. S., Bigham, A. W., Tabor, H. K., Mefford, H. C., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34074 · Cited by 194

Missense Mutations and Gene Interruption in PROSIT240 , a Novel TRAP240 -Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries)

Muncke, N., Jung, C. J., Rüdiger, H., Ulmer, H. E., Roeth, R., Hubert, A., Goldmuntz, E., Driscoll, D. A., Goodship, J., Schön, K., et al. (2003) · Circulation · doi:10.1161/01.cir.0000103684.77636.cd · Cited by 194

Patterns of recurrence of congenital heart disease

Gill, H., Splitt, M. P., Sharland, G. K., & Simpson, J. M. (2003) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(03)00853-2 · Cited by 192

Consequences of JAG1 mutations

Kamath, B. M., Bason, L., Piccoli, D. A., Krantz, I. D., & Spinner, N. B. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.12.891 · Cited by 191

Prenatal and pre-implantation genetic diagnosis

Vermeesch, J. R., Voet, T., & Devriendt, K. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.97 · Cited by 189

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Ruiz-Perez, V. L., Stuart Tompson, W. J., Helen Blair, J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/368063 · Cited by 187

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Stittrich, A., Lehman, A., Bodian, D. L., Ashworth, J. R., Zong, Z., Li, H., Lam, P. M. W., Khromykh, A., Iyer, R. K., Vockley, J. G., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.07.011 · Cited by 186

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Postma, A. V., van Engelen, K., van de Meerakker, J. B. A., et al. (2010) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.957985 · Cited by 186

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Kott, E., Duquesnoy, P., Copin, B., Legendre, M., Moal, F., Montantin, G., Jeanson, L., Tamalet, A., Papon, J., Siffroi, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.003 · Cited by 183

Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors.

(1995) · PubMed · Cited by 183

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Turki, S. H. A., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M., Lindsay, S., D’Alessandro, L. C. A., Swaminathan, G. J., Bentham, J., Arndt, A.-K., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.007 · Cited by 181

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Wat, M. J., Shchelochkov, O. A., Holder, A. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32896 · Cited by 180

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

Roessler, E., Ouspenskaia, M. V., Karkera, J. D., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.012 · Cited by 178

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

Horani, A., Druley, T. E., Zariwala, M. A., Patel, A. C., Levinson, B. T., VanArendonk, L. G., Thornton, K. C., Giacalone, J. C., Albee, A. J., Wilson, K. S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.022 · Cited by 176

Elastin: mutational spectrum in supravalvular aortic stenosis

Metcalfe, K., Rucka, A. K., Smoot, L. B., Hofstadler, G., Tuzler, G., McKeown, P., Siu, V. M., Rauch, A. M., Dean, J., Dennis, N. R., et al. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200564 · Cited by 176

Ocular abnormalities in Alagille syndrome11None of the authors has any commercial interest arising from the findings presented in this article.

Hingorani, M., Nischal, K. K., Davies, A., et al. (1999) · Ophthalmology · doi:10.1016/s0161-6420(99)90072-6 · Cited by 175

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Mohapatra, B., Casey, B. M., Li, H., Ho-Dawson, T., Smith, L., Fernbach, S. D., Molinari, L., Niesh, S. R., Jefferies, J. L., Craigen, W. J., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn411 · Cited by 175

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.005 · Cited by 174

Advances in the Genetics of Congenital Heart Disease

Blue, G. M., Kirk, E. P., Giannoulatou, E., Sholler, G. F., Dunwoodie, S. L., Harvey, R. P., & Winlaw, D. S. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.11.060 · Cited by 174

Of mice and men: molecular genetics of congenital heart disease

Andersen, T. A., Troelsen, K. D. L. L., & Larsen, L. A. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1430-1 · Cited by 173

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Swinkels, M. E. M., Simons, A., Smeets, D., Vissers, L. E. L. M., Veltman, J. A., Pfundt, R., Vries, B. B. A. D., Faas, B. H. W., Schrander-Stumpel, C. T. R. M., McCann, E., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32310 · Cited by 170

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Toddie-Moore, D., Onoufriadis, A., Shoemark, A., Simpson, M. A., Lage, P. Z., de Castro, S. C., Bartoloni, L., Gallone, G., Petridi, S., Woollard, W. J., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.009 · Cited by 168

Morpholinos: Antisense and Sensibility

Blum, M., Robertis, E. M. D., Wallingford, J. B., et al. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.09.017 · Cited by 168

Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Kosho, T., Okamoto, N., & Collaborators, C. S. I. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31407 · Cited by 167

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Hjeij, R., Lindstrand, A., Francis, R. J. B., Zariwala, M. A., Liu, X., Li, Y., Damerla, R. R., Dougherty, G. W., Abouhamed, M., Olbrich, H., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.009 · Cited by 161

Tbx5-Hedgehog Molecular Networks Are Essential in the Second Heart Field for Atrial Septation

Xie, L., Hoffmann, A. D., Burnicka-Turek, O., Friedland‐Little, J. M., Zhang, K., & Moskowitz, I. P. G. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.06.006 · Cited by 160

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Soemedi, R., Töpf, A., Wilson, I., Darlay, R., Rahman, T., Glen, E., Hall, D. H., Huang, N., Bentham, J., Bhattacharya, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr589 · Cited by 160

Copy number variants at Williams–Beuren syndrome 7q11.23 region

Merla, G., Brunetti‐Pierri, N., Micale, L., & Fusco, C. (2010) · Human Genetics · doi:10.1007/s00439-010-0827-2 · Cited by 159

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

Sárközy, A., Conti, E., Neri, C., D’Agostino, R., Digilio, M. C., Esposito, G., Toscano, A., Marino, B., Pizzuti, A., & Dallapiccola, B. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.026740 · Cited by 158

Alpha-cardiac actin mutations produce atrial septal defects

Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegårdh, J. T., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm302 · Cited by 157

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Duquesnoy, P., Escudier, E. F., Vincensini, L., Freshour, J. R., Bridoux, A.-M., Coste, A., Deschildre, A., Jacques de, B. L. I. C., Legendre, M., Montantin, G., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.11.008 · Cited by 156

Zebrafish in the Study of Early Cardiac Development

Liu, J., & Stainier, D. Y. R. (2012) · Circulation Research · doi:10.1161/circresaha.111.246504 · Cited by 156

Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease

Christiansen, J., Dyck, J. D., Elyas, B. G., Lilley, M., Bamforth, J. S., Hicks, M., Sprysak, K. A., Tomaszewski, R., Haase, S. M., Vicen-Wyhony, L. M., et al. (2004) · Circulation Research · doi:10.1161/01.res.0000130528.72330.5c · Cited by 156

Genetics and Genetic Testing in Congenital Heart Disease

Cowan, J. R., & Ware, S. M. (2015) · Clinics in Perinatology · doi:10.1016/j.clp.2015.02.009 · Cited by 154

Anatomic patterns of conotruncal defects associated with deletion 22q11

Marino, B., Digilio, M. C., Toscano, A., et al. (2001) · Genetics in Medicine · doi:10.1097/00125817-200101000-00010 · Cited by 153

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Granados-Riveron, J. T., Ghosh, T. K., Pope, M., Bu'Lock, F. A., Thornborough, C., Eason, J., Kirk, E. P., Fatkin, D., Feneley, M. P., Harvey, R. P., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq315 · Cited by 152

Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)

Dasgupta, C., Martinez, A.-M., Zuppan, C. W., Shah, M. M., Bailey, L. L., & Fletcher, W. H. (2001) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/s0027-5107(01)00160-9 · Cited by 151

GINA, Genetic Discrimination, and Genomic Medicine

Green, R. C., Lautenbach, D. M., & McGuire, A. L. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1404776 · Cited by 151

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

Okubo, A., Miyoshi, O., Baba, K., Takagi, M., Tsukamoto, K., Kinoshita, A., Yoshiura, K., Kishino, T., Ohta, T., Niikawa, N., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.018895 · Cited by 151

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Paff, T., Loges, N. T., Aprea, I., Wu, K., Bakey, Z., Haarman, E. G., Daniels, J. M. A., Sistermans, E. A., Bogunovic, N., Dougherty, G. W., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.11.019 · Cited by 151

Informed consent, parental permission, and assent in pediatric practice. Committee on Bioethics, American Academy of Pediatrics.

(1995) · PubMed · Cited by 151

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Knowles, M. R., Ostrowski, L. E., Loges, N. T., Hurd, T. W., Leigh, M. W., Huang, L., Wolf, W., Carson, J. L., Hazucha, M. J., Yin, W., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.07.025 · Cited by 150

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Heilstedt, H., Ballif, B. C., Howard, L. T., et al. (2003) · Clinical Genetics · doi:10.1034/j.1399-0004.2003.00126.x · Cited by 150

Recommendations for the integration of genomics into clinical practice

Bowdin, S. C., Gilbert, A., Bedoukian, E. C., Carew, C., Adam, M. P., Belmont, J. W., Bernhardt, B. A., Biesecker, L. G., Bjornsson, H. T., Blitzer, M. G., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.17 · Cited by 149

Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

Limongelli, G., Pacileo, G., Marino, B., et al. (2007) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2007.03.093 · Cited by 148

TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

McDermott, D. A., Bressan, M. C., He, J., Lee, J. S., Aftimos, S. F., Brueckner, M. K., Gilbert, F., Graham, G. E., Hannibal, M., Innis, J. W., et al. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000182593.95441.64 · Cited by 148

Complex Genetics and the Etiology of Human Congenital Heart DiseasePreprint

Gelb, B. D., & Chung, W. K. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a013953 · Cited by 148

Medical implications of technical accuracy in genome sequencing

Goldfeder, R. L., Priest, J. R., Zook, J. M., Grove, M. E., Waggott, D. M., Wheeler, M. T., Salit, M., & Ashley, E. A. (2016) · Genome Medicine · doi:10.1186/s13073-016-0269-0 · Cited by 147

Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice

Ye, M., Coldren, C. D., Liang, X., Mattina, T., Goldmuntz, E., Benson, D. W., Ivy, D. D., Perryman, M. B., Garrett‐Sinha, L. A., & Grossfeld, P. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp532 · Cited by 146

Congenital heart disease and extracardiac anomalies: Associations and indications for fetal echocardiography

Copel, J. A., Pilu, G., & Kleinman, C. S. (1986) · American Journal of Obstetrics and Gynecology · doi:10.1016/0002-9378(86)90773-8 · Cited by 143

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Paulussen, A. D. C., Stegmann, A. P. A., Blok, M. J., et al. (2010) · Human Mutation · doi:10.1002/humu.21416 · Cited by 142

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Pizzuti, A., Sárközy, A., Newton, A., et al. (2003) · Human Mutation · doi:10.1002/humu.10261 · Cited by 140

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

Lin, A. E., Alexander, M. E., Colan, S. D., Kerr, B. A., Rauen, K. A., Noonan, J. A., Baffa, J. M., Hopkins, E., Sol‐Church, K., Limongelli, G., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33857 · Cited by 139

Three decades of follow‐up of aortic and pulmonary vascular lesions in the Williams‐Beuren syndrome

Wessel, A., Pankau, R., Kececioglu, D., Ruschewski, W., & Bürsch, J. H. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320520309 · Cited by 139

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Kerstjens‐Frederikse, W. S., van de Laar, I. M. B. H., Vos, Y. J., Verhagen, J. M. A., Berger, R. M. F., Lichtenbelt, K. D., Wassink‐Ruiter, J. S. K., van der Zwaag, P. A., Sarvaas, G. J. D. M., Bergman, K. A., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.193 · Cited by 139

A spatiotemporal evaluation of the contribution of the dorsal mesenchymal protrusion to cardiac development

Snarr, B. S., Wirrig, E. E., Phelps, A. L., et al. (2007) · Developmental Dynamics · doi:10.1002/dvdy.21074 · Cited by 136

Novel KDM6A ( UTX ) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome ( KS2 )

Banka, S., Lederer, D., Benoît, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B. A., McKee, S. A., Lloyd, I. C., Shears, D. J., et al. (2014) · Clinical Genetics · doi:10.1111/cge.12363 · Cited by 135

Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects

Sperling, S., Grimm, C., Dunkel, I., Mebus, S., Sperling, H.-P., Ebner, A., Galli, R., Lehrach, H., Fusch, C., Berger, F. F., et al. (2005) · Human Mutation · doi:10.1002/humu.20262 · Cited by 135

Cardiomyopathies in Noonan syndrome and the other RASopathies

Gelb, B. D., Roberts, A. E., & Tartaglia, M. (2015) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2015.01.002 · Cited by 134

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

1q21.1 Study Group, Rosenfeld, J. A., Traylor, R. N., Schaefer, G. B., McPherson, E. W., Ballif, B. C., Klopocki, E., Mundlos, S., Shaffer, L. G., & Aylsworth, A. S. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.6 · Cited by 134

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

Fung, A., Manlhiot, C., Naik, S., Rosenberg, H. C., Smythe, J., Lougheed, J., Mondal, T. K., Chitayat, D. A., McCrindle, B. W., & Mital, S. R. (2013) · Journal of the American Heart Association · doi:10.1161/jaha.113.000064 · Cited by 133

Risk of sudden death in the Williams–Beuren syndrome

Wessel, A., Gravenhorst, V. D., Buchhorn, R., Gosch, A., Partsch, C., & Pankau, R. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30012 · Cited by 133

Identification of GATA6 Sequence Variants in Patients With Congenital Heart Defects

Maitra, M., Koenig, S. N., Srivastava, D., & Garg, V. (2010) · Pediatric Research · doi:10.1203/pdr.0b013e3181ed17e4 · Cited by 133

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

Budde, B. S., Binner, P., Waldmüller, S., Höhne, W. E., Blankenfeldt, W., Haßfeld, S., Brömsen, J., Dermintzoglou, A., Wieczorek, M., May, E., et al. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001362 · Cited by 133

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

Mazor, M., Alkrinawi, S., Caspi, V. C., Manor, E., Sheffield, V. C., Aviram, M., & Parvari, R. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.018 · Cited by 132

Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

Tan, H. L., Glen, E., Töpf, A., Hall, D. H., O’Sullivan, J., Sneddon, L., Wren, C., Avery, P. J., Lewis, R. J., ten Dijke, P., et al. (2012) · Human Mutation · doi:10.1002/humu.22030 · Cited by 132

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., Ala‐Mello, S., Beemer, F. A., Bernasconi, S., Bianchi, P., et al. (2005) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2005.01.003 · Cited by 132

Congenital cardiovascular malformations: Questions on inheritance

Ferencz, C., Boughman, J. A., Neill, C. A., et al. (1989) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(89)90122-8 · Cited by 131

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta‐analysis

Jansen, F. A. R., Blumenfeld, Y. J., Fisher, A., Cobben, J. M., Odibo, A. O., BORRELL, A., & Haak, M. C. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14695 · Cited by 130

Congenital heart defects in Kabuki syndrome

Digilio, M. C., Marino, B., Toscano, A., Giannotti, A., & Dallapiccola, B. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1265 · Cited by 130

Analysis of Cardiac Myocyte Maturation Using CASAAV, a Platform for Rapid Dissection of Cardiac Myocyte Gene Function In Vivo

Guo, Y., VanDusen, N. J., Zhang, L., Gu, W., Sethi, I., Guatimosim, S., Ma, Q., Jardin, B. D., Ai, Y., Zhang, D., et al. (2017) · Circulation Research · doi:10.1161/circresaha.116.310283 · Cited by 130

Renal anomalies in Alagille syndrome: A disease‐defining feature

Kamath, B. M., Podkameni, G., Hutchinson, A., Leonard, L. D., Gerfen, J., Krantz, I. D., Piccoli, D. A., Spinner, N. B., Loomes, K. M., & Meyers, K. E. C. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34369 · Cited by 128

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

Chaki, M., Hoefele, J., Allen, S. J., Ramaswami, G., Janssen, S., Bergmann, C., Heckenlively, J. R., Otto, E. A., & Hildebrandt, F. (2011) · Kidney International · doi:10.1038/ki.2011.284 · Cited by 128

Extracardiac anomalies in the heterotaxy syndromes with focus on anomalies of midline-associated structures

Ticho, B. S., Goldstein, A. M., & Praagh, R. V. (2000) · The American Journal of Cardiology · doi:10.1016/s0002-9149(99)00849-8 · Cited by 127

A new gene, EVC2, is mutated in Ellis–van Creveld syndrome

Galdzicka, M. M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H. M., Egeland, J. A., & Ginns, E. I. (2002) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(02)00178-6 · Cited by 127

Regulation in the heart field of zebrafish

Serbedzija, G. N., Chen, J., & Fishman, M. C. (1998) · Development · doi:10.1242/dev.125.6.1095 · Cited by 127

Cellular changes in experimental left heart hypoplasia

Sedmera, D., Hu, N., Weiss, K. M., et al. (2002) · The Anatomical Record · doi:10.1002/ar.10098 · Cited by 126

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Wallmeier, J., Shiratori, H., Dougherty, G. W., Edelbusch, C., Hjeij, R., Loges, N. T., Menchen, T., Olbrich, H., Pennekamp, P., Raidt, J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.06.014 · Cited by 123

Kabuki syndrome: a review study of three hundred patients

Wessels, M. W., Brooks, A. S., Hoogeboom, J. A. M., Niermeijer, M. F., & Willems, P. J. (2002) · Clinical Dysmorphology · doi:10.1097/00019605-200204000-00004 · Cited by 122

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype

Favier, R., Akshoomoff, N. A., Mattson, S. N., & Grossfeld, P. (2015) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31448 · Cited by 122

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

Digilio, M., Angioni, A., Santis, M. D., et al. (2003) · Clinical Genetics · doi:10.1034/j.1399-0004.2003.00049.x · Cited by 122

The psychological impact of genetic information on children: a systematic review

Wakefield, C. E., Hanlon, L. V., Tucker, K., Patenaude, A. F., Signorelli, C., McLoone, J. K., & Cohn, R. J. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.181 · Cited by 122

Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses

Song, M. S., Hu, A. C., Dyhamenahali, U., Chitayat, D. A., Winsor, E. J. T., Ryan, G., Smallhorn, J. F., Barrett, J. F. R., Yoo, S., & Hornberger, L. K. (2009) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.6309 · Cited by 121

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H., Yan, B., Liu, Y., Yang, Y., & Chen, Y. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.84 · Cited by 121

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

McDonald‐McGinn, D. M., Fahiminiya, S., Revil, T., Nowakowska, B., Suhl, J. A., Bailey, A., Mlynarski, E. E., Lynch, D. R., Yan, A. C., Bilaniuk, L. T., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101320 · Cited by 121

5p deletions: Current knowledge and future directions

Nguyen, J., Qualmann, K. J., Okashah, R. A., Reilly, A., ALEXEYEV, M. F., & Campbell, D. J. (2015) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31444 · Cited by 120

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients

Tompson, S. W. J., Ruiz‐Pérez, V. L., Blair, H. J., Barton, S., Navarro, V., Robson, J. L., Wright, M. J., & Goodship, J. A. (2006) · Human Genetics · doi:10.1007/s00439-006-0237-7 · Cited by 119

In vivo response to high-resolution variation of Tbx1 mRNA dosage.

Zhang, Z., & Baldini, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm291 · Cited by 119

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

Peyvandi, S., Lupo, P. J., Garbarini, J. L., et al. (2013) · Pediatric Cardiology · doi:10.1007/s00246-013-0694-4 · Cited by 118

Roles of cilia, fluid flow, and Ca2+ signaling in breaking of left–right symmetry

Yoshiba, S., & Hamada, H. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.09.001 · Cited by 118

Expansion of the RASopathies

Tidyman, W. E., & Rauen, K. A. (2016) · Current Genetic Medicine Reports · doi:10.1007/s40142-016-0100-7 · Cited by 117

Management of Genetic Syndromes

(2010) · Wiley eBooks · doi:10.1002/9780470893159 · Cited by 116

Association Between Congenital Heart Defects and Small for Gestational Age

Malik, S., Cleves, M. A., Zhao, W., Correa, A., Hobbs, C. A., & Study, A. T. N. B. D. P. (2007) · PEDIATRICS · doi:10.1542/peds.2006-2742 · Cited by 115

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

Mégarbané, A., Salem, N., Stéphan, E., et al. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200526 · Cited by 115

Update on counseling the family with a first‐degree relative with a congenital heart defect

Nora, J. J., Nora, A. H., Optiz, J. M., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290117 · Cited by 115

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

Carey, A. S., Liang, L., Edwards, J. J., Brandt, T., Mei, H., Sharp, A. J., Hsu, D. T., Newburger, J. W., Ohye, R. G., Chung, W. K., et al. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000189 · Cited by 115

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104436 · Cited by 115

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L.-C., Loo, P. V., Møllgård, K., Tommerup, N., Bache, I., Tümer, Z., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.011 · Cited by 112

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

Priest, J. R., Osoegawa, K., Mohammed, N., Nanda, V., Kundu, R. K., Schultz, K., Lammer, E. J., Girirajan, S., Scheetz, T. E., Waggott, D. M., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005963 · Cited by 112

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

Garavelli, L., Zollino, M., Mainardi, P. C., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32693 · Cited by 111

Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis

Slough, J., Cooney, L., & Brueckner, M. K. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21669 · Cited by 110

Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization

Hempel, M., Rivera‐Bruguès, N., Wagenstaller, J., Lederer, G., Weitensteiner, A., Seidel, H., Meitinger, T., & Strom, T. M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33042 · Cited by 110

Renal findings in 40 individuals with Williams syndrome

Pober, B. R., Lacro, R. V., Rice, C., Mandell, V. S., & TEELE, R. L. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460306 · Cited by 109

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Frank, V., Habbig, S., Bartram, M. P., Eisenberger, T., Veenstra‐Knol, H. E., Decker, C., Boorsma, R. A. C., Göbel, H., Nürnberg, G., Griessmann, A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt070 · Cited by 109

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

Foffa, I., Ait Alì, L., Panesi, P., Mariani, M., Festa, P., Botto, N., Vecoli, C., & Andreassi, M. G. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-44 · Cited by 108

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Martin, C. L., & Warburton, D. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025346 · Cited by 108

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

Goldmuntz, E., Paluru, P. C., Glessner, J., Hakonarson, H. H., Biegel, J. A., White, P. S., Gai, X., & Shaikh, T. H. (2011) · Congenital Heart Disease · doi:10.1111/j.1747-0803.2011.00582.x · Cited by 107

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry‐based study in 16 european countries, 2000–2011

Springett, A. L., Wellesley, D. G., Greenlees, R., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37355 · Cited by 106

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease

Stallmeyer, B., Fenge, H., Nowak‐Göttl, U., & Schulze-Bahr, E. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01422.x · Cited by 106

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

White, S. M., Thompson, E. M., Kidd, A., Savarirayan, R., Turner, A. M., Amor, D. J., Delatycki, M. B., Fahey, M. C., Baxendale, A., White, S., et al. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20674 · Cited by 105

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Mazzeu, J. F., Pardono, E., Vianna‐Morgante, A. M., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31592 · Cited by 105

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

Ellesøe, S. G., Johansen, M. M., Bjerre, J. V., Hjortdal, V. E., Brunak, S., & Larsen, L. A. (2015) · Congenital Heart Disease · doi:10.1111/chd.12317 · Cited by 105

With great power comes great responsibility: Using mouse genetics to study cardiac hypertrophy and failure

Molkentin, J. D., & Robbins, J. M. (2008) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2008.09.002 · Cited by 104

Chromosome 2q37 deletion: Clinical and molecular aspects

Falk, R. E., & Casas, K. A. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30153 · Cited by 104

Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect

Mahle, W. T., Crisalli, J. A., Coleman, K. B., et al. (2003) · The Annals of Thoracic Surgery · doi:10.1016/s0003-4975(03)00516-2 · Cited by 104

Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects

Smith, K., Joziasse, I. C., Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M. C., Rehmann, H., van der Smagt, J. J., Doevendans, P. A., Cuppen, E. P. J. G., et al. (2009) · Circulation · doi:10.1161/circulationaha.108.843714 · Cited by 103

Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

Yaoita, M., Niihori, T., Mizuno, S., Okamoto, N., Hayashi, S., Watanabe, A., Yokozawa, M., Suzumura, H., Nakahara, A., Nakano, Y., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1627-5 · Cited by 103

Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype

Hassed, S. J., Li, S., Mulvihill, J. J., Aston, C. E., & Palmer, S. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37889 · Cited by 103

Molecular and clinical characterization of patients with overlapping 10p deletions

Lindstrand, A., Malmgren, H., Verri, A., Benetti, E., Eriksson, M., Nordgren, A., Anderlid, B., Golovleva, I., Schoumans, J., & Blennow, E. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33366 · Cited by 102

Tetralogy of Fallot associated with chromosome 22q11 deletion

Momma, K., Kondo, C., Ando, M., et al. (1995) · The American Journal of Cardiology · doi:10.1016/s0002-9149(99)80170-2 · Cited by 102

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Tartaglia, M., Cordeddu, V., Chang, H., Shaw, A. C., Kalidas, K., Crosby, A. H., Patton, M. A., Sorcini, M., van der Burgt, I., Jeffery, S., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/423493 · Cited by 102

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

van Bon, B. W. M., Koolen, D. A., Borgatti, R., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055830 · Cited by 100

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

Southgate, L., Sukalo, M., Karountzos, A. S., Taylor, E. J., Collinson, C., Ruddy, D., Snape, K. M. G., Dallapiccola, B., Tolmie, J., Joss, S. K., et al. (2015) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001086 · Cited by 100

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

Dentici, M. L., Pede, A. D., Lepri, F. R., Gnazzo, M., Lombardi, M. H., Auriti, C., Petrocchi, S., Pisaneschi, E., Bellacchio, E., Capolino, R., et al. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-305858 · Cited by 99

Echocardiographic Diagnosis of Heart Disease in Apparently Healthy Adolescents

Steinberger, J., Moller, J. H., Berry, J. M., & Sinaiko, A. R. (2000) · PEDIATRICS · doi:10.1542/peds.105.4.815 · Cited by 96

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

Blair, H. J., Tompson, S. W. J., Liu, Y., Campbell, J., MacArthur, K., Ponting, C. P., Ruiz‐Pérez, V. L., & Goodship, J. A. (2011) · BMC Biology · doi:10.1186/1741-7007-9-14 · Cited by 96

7q11.23 Duplication syndrome: Physical characteristics and natural history

Morris, C. A., Mervis, C. Β., Paciorkowski, A. P., Abdul-Rahman, O. A., Dugan, S. L., Rope, A. F., Bader, P. I., Hendon, L. G., Velleman, S. L., Klein-Tasman, B., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37340 · Cited by 95

Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

Smpokou, P., Tworog‐Dube, E., Kucherlapati, R., & Roberts, A. E. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35639 · Cited by 95

The ARID1B phenotype: What we have learned so far

Santen, G. W. E., & Clayton‐Smith, J. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31414 · Cited by 94

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome

Siegel, D. H., McKenzie, J., Frieden, I. J., & Rauen, K. A. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.10122.x · Cited by 94

Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

Abe, Y., Aoki, Y., Kuriyama, S., Kawame, H., Okamoto, N., Kurosawa, K., Ohashi, H., Mizuno, S., Ogata, T., Kure, S., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35292 · Cited by 94

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

Posch, M. G., Waldmüller, S., Müller, M., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028872 · Cited by 93

Genome-wide compendium and functional assessment of in vivo heart enhancers

Dickel, D. E., Barozzi, I., Zhu, Y., Fukuda-Yuzawa, Y., Osterwalder, M., Mannion, B. J., May, D., Spurrell, C. H., Plajzer-Frick, I., Pickle, C. S., et al. (2016) · Nature Communications · doi:10.1038/ncomms12923 · Cited by 93

Congenital heart defects in molecularly proven Kabuki syndrome patients

Digilio, M. C., Gnazzo, M., Lepri, F. R., Dentici, M. L., Pisaneschi, E., Baban, A., Passarelli, C., Capolino, R., Angioni, A., Novelli, A., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38417 · Cited by 93

Chromosome 2q terminal deletion: Report of 6 new patients and review of phenotype‐breakpoint correlations in 66 individuals

Casas, K. A., Mononen, T. K., Mikail, C. N., Hassed, S. J., Li, S., Mulvihill, J. J., Lin, H. J., & Falk, R. E. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30156 · Cited by 92

The maternal-age-associated risk of congenital heart disease is modifiable

Schulkey, C. E., Regmi, S. D., Magnan, R. A., Danzo, M. T., Luther, H., Hutchinson, A. K., Panzer, A. A., Grady, M. M., Wilson, D. B., & Jay, P. Y. (2015) · Nature · doi:10.1038/nature14361 · Cited by 92

Familial recurrence of congenital heart disease: an overview and review of the literature

Calcagni, G., Digilio, M. C., Sárközy, A., Dallapiccola, B., & Marino, B. (2006) · European Journal of Pediatrics · doi:10.1007/s00431-006-0295-9 · Cited by 92

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Mefford, H. C., Rosenfeld, J. A., Shur, N. E., Slavotinek, A. M., Cox, V. A., Hennekam, R. C. M., Firth, H. V., Willatt, L. R., Wheeler, P. G., Morrow, E. M., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100499 · Cited by 92

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

Digilio, M. C., Marino, B., Ammirati, A., Borzaga, U., Giannotti, A., & Dallapiccola, B. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990604)84:4 · Cited by 91

Gene Editing With CRISPR/Cas9 RNA-Directed Nuclease

Doetschman, T., & Georgieva, T. G. (2017) · Circulation Research · doi:10.1161/circresaha.116.309727 · Cited by 91

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

Jongmans, M. C. J., Hoefsloot, L. H., van der Donk, K. P., Admiraal, R. J. C., Magee, A. C., van de Laar, I. M. B. H., Hendriks, Y. M. C., Verheij, J. B. G. M., Walpole, I., Brunner, H. G., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31921 · Cited by 89

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo

Misra, C., Sachan, N., McNally, C. R., Koenig, S. N., Nichols, H. A., Guggilam, A., Lucchesi, P. A., Pu, W. T., Srivastava, D., & Garg, V. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002690 · Cited by 89

Serotonin transporter gene regulatory region polymorphism and anxiety-related traits in the Japanese

Nakamura, T., Muramatsu, T., Ono, Y., Matsushita, S., Higuchi, S., Mizushima, H., Yoshimura, K., Kanba, S., & Asai, M. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970919)74:5 · Cited by 89

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

Maslen, C. L., Babcock, D., Robinson, S. W., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31494 · Cited by 88

The Peters’ plus syndrome: a review

Wenniger-Prick, L. J. J. M. M. D. B., & Hennekam, R. C. M. (2002) · Annales de Génétique · doi:10.1016/s0003-3995(02)01120-6 · Cited by 86

Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

Mital, S. R., Musunuru, K., Garg, V., Russell, M. W. W., Lanfear, D. E., Gupta, R. M., Hickey, K. T., Ackerman, M. J., Perez, M. V., Roden, D. M., et al. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/hcg.0000000000000031 · Cited by 86

LEOPARD Syndrome: Clinical Features and Gene Mutations

Martínez‐Quintana, E., & Rodríguez-González, F. (2012) · Molecular Syndromology · doi:10.1159/000342251 · Cited by 85

Genetic analysis of patients with the Saethre‐Chotzen phenotype

Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S. J., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Ray, P. N., & Teshima, I. E. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10400 · Cited by 85

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

Beauchesne, L., Warnes, C. A., Connolly, H. M., et al. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2004.10.056 · Cited by 85

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

Kim, D. S., Kim, J. H., Burt, A., et al. (2015) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2015.09.136 · Cited by 85

Update on oral-facial-digital syndromes (OFDS)

Franco, B., & Thauvin‐Robinet, C. (2016) · Cilia · doi:10.1186/s13630-016-0034-4 · Cited by 85

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease

LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald‐Butt, S. M., Zender, G. A., Bosse, K. M., McBride, K. L., White, P., & Garg, V. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001324 · Cited by 83

Mutational spectrum of Smith–Lemli–Opitz syndrome

Waterham, H. R., & Hennekam, R. C. M. (2012) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31346 · Cited by 82

A Clinical Study of Sotos Syndrome Patients With Review of the Literature

Leventopoulos, G., Kitsiou‐Tzeli, S., Kritikos, K., Psoni, S., Mavrou, A., Kanavakis, E., & Fryssira, H. (2009) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2008.11.013 · Cited by 81

Aortic root dilation in patients with 22q11.2 deletion syndrome

John, A. S., McDonald‐McGinn, D. M., Zackai, E. H., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32770 · Cited by 81

Recurrence of Discordant Congenital Heart Defects in Families

�yen, N., Poulsen, G., Wohlfahrt, J., Boyd, H. A., Jensen, P. K. A., & Melbye, M. (2010) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.109.890103 · Cited by 81

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

Bi, W., Borgan, C., Pursley, A. N., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.152 · Cited by 80

Congenital cardiac malformations in Adams‐Oliver syndrome

Zapata, H., Sletten, L. J., & Pierpont, M. E. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb03928.x · Cited by 80

Turner syndrome

Levitsky, L. L., O’Donnell‐Luria, A., Hayes, F. J., & Lin, A. E. (2015) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000128 · Cited by 80

American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

(2001) · PubMed · Cited by 80

The Cardiac Phenotype in Patients With a CHD7 Mutation

Corsten‐Janssen, N., Kerstjens‐Frederikse, W. S., Sarvaas, G. J. D. M., et al. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000054 · Cited by 77

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Vetrini, F., D’Alessandro, L. C. A., Coban‐Akdemir, Z., Braxton, A. A., Azamian, M. S., Eldomery, M. K., Miller, K., Kois, C., Sack, V., Shur, N. E., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.011 · Cited by 77

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

Micale, L., Turturo, M. G., Fusco, C., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.181 · Cited by 75

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

Scurr, I. J., Wilson, L. C., Lees, M. M., Robertson, S. P., Kirk, E. P., Turner, A. M., Morton, J., Kidd, A., Shashi, V., Stanley, C., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33885 · Cited by 74

New mutations inZFPM2/FOG2gene in tetralogy of Fallot and double outlet right ventricle

Luca, A. D., Sárközy, A., Ferese, R., Consoli, F., Lepri, F. R., Dentici, M., Vergara, P., Zorzi, A. D., Versacci, P., Digilio, M., et al. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01523.x · Cited by 74

From generational studies to a multilevel genetic-environmental interaction

Nora, J. J. (1994) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(94)90393-x · Cited by 73

Increased postoperative respiratory complications in heterotaxy congenital heart disease patients with respiratory ciliary dysfunction

Harden, B. W., Tian, X., Giese, R., et al. (2013) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2013.06.018 · Cited by 73

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

Akshoomoff, N. A., Mattson, S. N., & Grossfeld, P. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.86 · Cited by 73

Myocardial infarction leading to sudden death in the Williams syndrome: Report of three cases

Conway, E. E., Noonan, J. A., Marion, R. W., et al. (1990) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80696-1 · Cited by 72

Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

Anaclerio, S., Ciommo, V. M. D., Michielon, G., et al. (2004) · PubMed · Cited by 72

Cell-Free DNA Screening

Grace, M. R., Hardisty, E., Dotters-Katz, S. K., et al. (2016) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0000000000000342 · Cited by 72

Blood flow patterns underlie developmental heart defects

Midgett, M., Thornburg, K. L. R., & Rugonyi, S. (2017) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00641.2016 · Cited by 72

Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the “Benefit to Families”

Wilfond, B. S., Fernandez, C. V., & Green, R. C. (2015) · The Journal of Law Medicine & Ethics · doi:10.1111/jlme.12298 · Cited by 71

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

Griffin, H. R., Töpf, A., Glen, E., Zweier, C., Stuart, G., Parsons, J., Peart, I., Deanfield, J. E., O’Sullivan, J., Rauch, A. M., et al. (2010) · Heart · doi:10.1136/hrt.2010.200121 · Cited by 71

The “Right Not to Know” in the Genomic Era: Time to Break From Tradition?

Berkman, B. E., & Hull, S. C. (2014) · The American Journal of Bioethics · doi:10.1080/15265161.2014.880313 · Cited by 71

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

Digilio, M. C., Bernardini, L., Consoli, F., Lepri, F. R., Giuffrida, M. G., Baban, A., Surace, C., Ferese, R., Angioni, A., Novelli, A., et al. (2012) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2012.12.004 · Cited by 70

Common arterial trunk associated with a homeodomain mutation of NKX2.6

Heathcote, K., Braybrook, C., Abushaban, L., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi055 · Cited by 70

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

Preuß, C., Capredon, M., Wünnemann, F., Chétaille, P., Prince, A., Godard, B., Leclerc, S., Sobreira, N. L. D. M., Ling, H., Awadalla, P., et al. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006335 · Cited by 69

Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management

Paterick, T. E., Humphries, J., Ammar, K. A., et al. (2013) · The American Journal of Medicine · doi:10.1016/j.amjmed.2013.01.029 · Cited by 68

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Xiang, R., Fan, L., Huang, H., Cao, B., Li, X., Peng, D., & Xia, K. (2013) · Gene · doi:10.1016/j.gene.2013.10.028 · Cited by 68

Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Mitter, D., Chiaie, B. D., Lüdecke, H., Gillessen‐Kaesbach, G., Bohring, A., Kohlhase, J., Caliebe, A., Siebert, R., Roepke, A., Ramos-Arroyo, M. A., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33344 · Cited by 68

Presenting physical characteristics, medical conditions, and developmental status of long‐term survivors with trisomy 9 mosaicism

Bruns, D. A. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33928 · Cited by 68

Feeding difficulties and foregut dysmotility in Noonan's syndrome

Shah, N., Rodriguez, M., Louis, D., et al. (1999) · Archives of Disease in Childhood · doi:10.1136/adc.81.1.28 · Cited by 68

X-linked cataract and Nance-Horan syndrome are allelic disorders

Coccia, M., Brooks, S. P., Webb, T. R., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp206 · Cited by 67

Ciliopathies: Genetics in Pediatric Medicine

Oud, M. M., Lamers, I. J. C., & Arts, H. H. (2016) · Journal of Pediatric Genetics · doi:10.1055/s-0036-1593841 · Cited by 67

Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

Digilio, M. C., Calzolari, F., Capolino, R., Toscano, A., Sárközy, A., Zorzi, A. D., Dallapiccola, B., & Marino, B. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32407 · Cited by 66

Heart Disease and Stroke Statistics—2023 Update: A Report From the American Heart Association

Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Anderson, C. A. M., Arora, P., Avery, C. L., Baker-Smith, C. M., Beaton, A. Z., Boehme, A. K., Buxton, A. E., et al. (2023) · Circulation · doi:10.1161/cir.0000000000001123 · Cited by 8,300

Neurodevelopmental Outcomes for Individuals With Congenital Heart Disease: Updates in Neuroprotection, Risk-Stratification, Evaluation, and Management: A Scientific Statement From the American Heart Association

Sood, E., Newburger, J. W., Anixt, J. S., Cassidy, A. R., Jackson, J. L., Jonas, R. A., Lisanti, A. J., Lopez, K. N., Peyvandi, S., Marino, B. S., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001211 · Cited by 266

Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67

Maternal obesity and metabolic disorders associate with congenital heart defects in the offspring: A systematic review

Hedermann, G., Hedley, P. L., Thagaard, I. N., Krebs, L., Ekelund, C. K., Sørensen, T. I. A., & Christiansen, M. (2021) · PLOS ONE · doi:10.1371/journal.pone.0252343 · Cited by 48

Structural Analysis of the History of Early Greek and Early European Philosophy

Riegel, K. F. (1976) · doi:10.1007/978-1-4684-0763-1_10

LOOPS AND SUBSCRIPTED VARIABLES

SANDERSON, P. C. (1973) · Elsevier eBooks · doi:10.1016/b978-0-408-70528-8.50011-x

Inference and the Conditions of Its Correctness

Ajdukiewicz, K. (1974) · doi:10.1007/978-94-010-2109-8_9

The effectiveness of different model statement variants for eliciting information and cues to deceit

Leal, S., Vrij, A., Hudson, C. A., Capuozzo, P., & Deeb, H. (2021) · Legal and Criminological Psychology · doi:10.1111/lcrp.12200 · Cited by 10

On the Enduring and Fleeting Uses of the Teaching Statement

McElroy, K. (2023) · Canadian Journal of Academic Librarianship · doi:10.33137/cjal-rcbu.v9.40960