Isolated frontosphenoidal craniosynostosis: An argument for genetic testing

Authors: Hodapp, Matthew, Hing, Anne V., Gallagher, Emily, Blessing, Matthew, Cunningham, Michael L.

Source: American journal of medical genetics.Part A. 191(10):2651-2655

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192929164.0x000001&indx=1&recIds=ETOCvdc_100192929164.0x000001

Targeted long-read sequencing identifies missing disease-causing variation

Authors: Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.

Source: In The American Journal of Human Genetics 5 August 2021 108(8):1436-1449

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence

Authors: Wenger, Tara L., Perkins, Jonathan, Parish‐Morris, Julia, Hing, Anne V., Chen, Maida L., Cielo, Christopher M., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Zackai, Elaine, McDonald‐McGinn, Donna M., Taylor, Jesse A., Jackson, Oksana, Sie, Kathleen, Bly, Randall, Dahl, John, Evans, Kelly N.

Source: American journal of medical genetics.Part A. 185(12):3694-3700

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134459528.0x000001&indx=1&recIds=ETOCvdc_100134459528.0x000001

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Authors: Cox, Liza L., Cox, Timothy C., Moreno Uribe, Lina M., Zhu, Ying, Richter, Chika T., Nidey, Nichole, Standley, Jennifer M., Deng, Mei, Blue, Elizabeth, Chong, Jessica X., Yang, Yueqin, Carstens, Russ P., Anand, Deepti, Lachke, Salil A., Smith, Joshua D., Dorschner, Michael O., Bedell, Bruce, Kirk, Edwin, Hing, Anne V., Venselaar, Hanka, Valencia-Ramirez, Luz C., Bamshad, Michael J., Glass, Ian A., Cooper, Jonathan A., Haan, Eric, Nickerson, Deborah A., van Bokhoven, Hans, Zhou, Huiqing, Krahn, Katy N., Buckley, Michael F., Murray, Jeffrey C., Lidral, Andrew C., Roscioli, Tony

Source: In The American Journal of Human Genetics 7 June 2018 102(6):1143-1157

Novel findings of left ventricular non‐compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A‐associated Cornelia de Lange syndrome

Authors: Wenger, Tara L., Chow, Penny, Randle, Stephanie C., Rosen, Anna, Birgfeld, Craig, Wrede, Joanna, Javid, Patrick, King, Darcy, Manh, Vivian, Hing, Anne V., Albers, Erin

Source: American journal of medical genetics.Part A. 173(2):414-420

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100081730914.0x000001&indx=1&recIds=ETOCvdc_100081730914.0x000001

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Authors: Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.

Source: In Genetics in Medicine January 2023 25(1):143-150

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Authors: Bachmann-Gagescu, Ruxandra, Mefford, Heather C., Cowan, Charles, Glew, Gwen M., Hing, Anne V., Wallace, Stephanie, Bader, Patricia I., Hamati, Aline, Reitnauer, Pamela J., Smith, Rosemarie, Stockton, David W., Muhle, Hiltrud, Helbig, Ingo, Eichler, Evan E., Ballif, Blake C., Rosenfeld, Jill, Tsuchiya, Karen D. ^*

Source: In Genetics in Medicine October 2010 12(10):641-647

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Authors: Rieder, Mark J., Green, Glenn E., Park, Sarah S., Stamper, Brendan D., Gordon, Christopher T., Johnson, Jason M., Cunniff, Christopher M., Smith, Joshua D., Emery, Sarah B., Lyonnet, S., Amiel, J., Holder, M., Heggie, Andrew A., Bamshad, Michael J., Nickerson, Deborah A., Cox, Timothy C., Hing, Anne V., Horst, Jeremy A., Cunningham, Michael L.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 90(5):907-914

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN311410707&indx=1&recIds=ETOCRN311410707

Damaging variants in FOXI3cause microtia and craniofacial microsomia

Authors: Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.

Source: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p143-150, 8p

100 - Craniofacial Malformations

Authors: Evans, Kelly N., Hing, Anne V., Cunningham, Michael L.

Source: In Avery's Diseases of the Newborn Edition: Tenth Edition. 2018:1417-1437

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Authors: Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L.

Source: Nature Communications; 8/3/2021, Vol. 12 Issue 1, p1-11, 11p

Subject Terms: NEURAL crest, CONGENITAL disorders, NUCLEOTIDE sequencing, NEURAL development, SKELETAL abnormalities

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

Authors: Hing Anne V, Hannibal Mark C, Opheim Kent E, Tsuchiya Karen D, Glass Ian A, Raff Michael L, Norwood Thomas, Torchia Beth A

Source: Molecular Cytogenetics, Vol 1, Iss 1, p 7 (2008)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://www.molecularcytogenetics.org/content/1/1/7; https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/134f7e68dd074b09ae9a83399c642acf

Chapter 39 - Molecular Genetics and Biology of Craniofacial Craniosynostoses

Authors: Cox, Timothy C., Horst, Jeremy A., Hing, Anne V., Cunningham, Michael L.

Source: In Stem Cell Biology and Tissue Engineering in Dental Sciences 2015:499-520

VNTR and microsatellite polymorphisms within the subtelomeric region of 7q.

Authors: Hing, Anne V., Helms, Cynthia, Donis-Keller, Helen

Source: American Journal of Human Genetics; August 1993, Vol. 53, p509-517, 9p

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Authors: Smith, Joshua D., Hing, Anne V., Clarke, Christine M., Johnson, Nathan M., Perez, Francisco A., Park, Sarah S., Horst, Jeremy A., Mecham, Brig, Maves, Lisa, Nickerson, Deborah A., Cunningham, Michael L.

Source: In The American Journal of Human Genetics 7 August 2014 95(2):235-240

Colaboradores

Authors: Abman, Steven H., Allegaert, Karel, Arya, Bhawna, Askenazi, David, Azhibekov, Timur, Back, Stephen A., Baldwin, H. Scott, Ballard, Roberta A., Bancalari, Eduardo, Bates, Carlton M., Batra, Maneesh, Bayart, Cheryl B., Bellus, Gary A., Benedetti, Thomas J., Benjamin, John T., Bennett, James T., Berry, Gerard T., Binenbaum, Gil, Boos, Markus D., Bouchard, Maryse, Brandling-Bennett, Heather A., Broughton, Darcy E., Brown, Zane, Campbell, Katherine H., Carmichael, Suzan L., Carter, Brian S., Cederbaum, Stephen, Chabra, Shilpi, Chang, Justine, Cheng, Edith Y., Chisholm, Karen M., Christensen, Robert D., Chun, Terrence, Claure, Nelson, Clyman, Ronald I., Colaizy, Tarah T., Cortezzo, DonnaMaria E., Cotten, C. Michael, Cunningham, Michael L., Campomanes, Alejandra G. de Alba, Dees, Ellen, DeMauro, Sara B., Denne, Scott C., Deschmann, Emöke, DiBlasi, Carolina Cecilia, DiBlasi, Robert M., Dimmitt, Reed A., DiVall, Sara A., Djahangirian, Orchid, Doherty, Dan, Eichenwald, Eric C., Engen, Rachel, Engmann, Cyril, Evans, Jacquelyn R., Evans, Kelly N., Farmer, Diana L., Fechner, Patricia Y., Ferrieri, Patricia, Finer, Neil N., Fleishman, Rachel A., Fleiss, Bobbi, Flynn, Joseph T., Flynn-O’Brien, Katherine T., Frey, Mark R., Furman, Lydia, Gallagher, Renata C., Gauda, Estelle B., Gleason, Christine A., Goldberg, Michael J., Goldin, Adam B., Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Guttentag, Susan H., Haldeman-Englert, Chad R., Hansen, Thomas N., Hing, Anne V., Hingorani, Sangeeta, Hintz, Susan R., Hirose, Shinjiro, Hodson, W. Alan, Hoppe, Kara K., Hostetter, Margaret K., Huang, Benjamin, Huang, Sarah Bauer, Inder, Terrie E., Inoita, Cristian, Jackson, J. Craig, Jain, Deepak, Jain, Lucky, Javid, Patrick J., Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Katheria, Anup, Keller, Benjamin A., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Koves, Ildiko H., Lam, Christina, Lane, Erin R., Lantos, John D., Ledbetter, Daniel J., Lee, Ben, Levy, Harvey L., Levy, Ofer, Lewin, Mark B., Lewis, David B., Lin, P. Ling, Lin, Tiffany Fangtse, Lorch, Scott A., Maheshwari, Akhil, Maltepe, Emin, Marsh, Ketzela J., Martin, Richard J., Mayock, Dennis E., McAdams, Ryan Michael, McAleer, Irene, McElroy, Steven J., McNelis, Kera M., McQuillen, Patrick, Meadow, William L., Merguerian, Paul A., Merjaneh, Lina, Merritt, J. Lawrence, II, Mezger, Valerie, Michaels, Marian G., Miller, Steven P., Mohan, Sowmya S., Mollen, Thomas J., Moore, Thomas R., Murray, Jeffrey C., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Neil, Jeffrey J., Ness, Kathryn D., Neu, Josef, Nip, Angel Siu-Ying, Noori, Shahab, O’Mahony, Lila, Palma, Jonathan P., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Cate, Plosa, Erin, Poindexter, Brenda B., Posencheg, Michael A., Reinking, Benjamin E., Rice-Townsend, Samuel, Richards, Morgan K., Richardson, C. Peter, Richardson, Kelsey, Riggle, Kevin M., Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sanchez, Pablo, Saxonhouse, Matthew A., Schanler, Richard J., Schleiss, Mark R., Scholz, Thomas, Schwaderer, Andrew L., Selewski, David, Sellers, Zachary M., Seri, Istvan, Shnorhavorian, Margarett, Sibley, Eric, Sidbury, Robert, Simmons, Rebecca, Smith, Caitlin, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steinhorn, Robin H., Stevenson, David K., Stolp, Helen, Taplin, Craig, Tarczy-Hornoch, Peter, Taylor, James A., Thomas, Janet A., Thompson, Tracy, Tiller, George E., Torres, Benjamin A., Traudt, Christopher Michael, van den Anker, John N., Vernon, Margaret M., Vohr, Betty, Walker, Valencia P., Wallen, Linda D., Wallenstein, Matthew B., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Willig, Laurel, Woodrum, David, Woodward, George A., Wright, Clyde J., Wright, Jeffrey A., Yonekawa, Karyn, Zackai, Elaine H.

Source: In Avery. Enfermedades del recién nacido Edition: Tenth Edition. 2019:vii-xx

100 - Malformaciones craneofaciales

Authors: Evans, Kelly N., Hing, Anne V., Cunningham, Michael L.

Source: In Avery. Enfermedades del recién nacido Edition: Tenth Edition. 2019:1417-1437

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Chapter 95 - Craniofacial Malformations

Authors: Evans, Kelly, Hing, Anne V., Cunningham, Michael

Source: In Avery's Diseases of the Newborn Edition: Ninth Edition. 2012:1331-1350

Contributors

Authors: Abman, Steven H., Allegaert, Karel, Arya, Bhawna, Askenazi, David, Azhibekov, Timur, Back, Stephen A., Baldwin, H. Scott, Ballard, Roberta A., Bancalari, Eduardo, Bates, Carlton M., Batra, Maneesh, Bayart, Cheryl B., Bellus, Gary A., Benedetti, Thomas J., Benjamin, John T., Bennett, James T., Berry, Gerard T., Binenbaum, Gil, Boos, Markus D., Bouchard, Maryse, Brandling-Bennett, Heather A., Broughton, Darcy E., Brown, Zane, Campbell, Katherine H., Carmichael, Suzan L., Carter, Brian S., Cederbaum, Stephen, Chabra, Shilpi, Chang, Justine, Cheng, Edith Y., Chisholm, Karen M., Christensen, Robert D., Chun, Terrence, Claure, Nelson, Clyman, Ronald I., Colaizy, Tarah T., Cortezzo, DonnaMaria E., Cotten, C. Michael, Cunningham, Michael L., de Alba Campomanes, Alejandra G., Dees, Ellen, DeMauro, Sara B., Denne, Scott C., Deschmann, Emöke, Cecilia, Carolina, DiBlasi, Robert M., Dimmitt, Reed A., DiVall, Sara A., Djahangirian, Orchid, Doherty, Dan, Eichenwald, Eric C., Engen, Rachel, Engmann, Cyril, Evans, Jacquelyn R., Evans, Kelly N., Farmer, Diana L., Fechner, Patricia Y., Ferrieri, Patricia, Finer, Neil N., Fleishman, Rachel A., Fleiss, Bobbi, Flynn, Joseph T., Flynn-O'Brien, Katherine T., Frey, Mark R., Furman, Lydia, Gallagher, Renata C., Gauda, Estelle B., Gleason, Christine A., Goldberg, Michael J., Goldin, Adam B., Gospe, Sidney M., Jr., Gressens, Pierre, Gupta, Deepti, Guttentag, Susan H., Haldeman-Englert, Chad R., Hansen, Thomas N., Hing, Anne V., Hingorani, Sangeeta, Hintz, Susan R., Hirose, Shinjiro, Hodson, W. Alan, Hoppe, Kara K., Hostetter, Margaret K., Huang, Benjamin, Huang, Sarah Bauer, Inder, Terrie E., Inoita, Cristian, Jackson, J. Craig, Jain, Deepak, Jain, Lucky, Javid, Patrick J., Josephson, Cassandra D., Jungheim, Emily S., Juul, Sandra E., Katheria, Anup, Keller, Benjamin A., Keller, Roberta L., Kelly, Thomas F., Khorsand, Kate, Kim, Grace, Kinsella, John P., Koves, Ildiko H., Lam, Christina, Lane, Erin R., Lantos, John D., Ledbetter, Daniel J., Lee, Ben, Levy, Harvey L., Levy, Ofer, Lewin, Mark B., Lewis, David B., Lin, P. Ling, Lin, Tiffany Fangtse, Lorch, Scott A., Maheshwari, Akhil, Maltepe, Emin, Marsh, Ketzela J., Martin, Richard J., Mayock, Dennis E., McAdams, Ryan Michael, McAleer, Irene, McElroy, Steven J., McNelis, Kera M., McQuillen, Patrick, Meadow, William L., Merguerian, Paul A., Merjaneh, Lina, Merritt, J. Lawrence, II, Mezger, Valerie, Michaels, Marian G., Miller, Steven P., Mohan, Sowmya S., Mollen, Thomas J., Moore, Thomas R., Murray, Jeffrey C., Murray, Karen F., Nandi-Munshi, Debika, Natarajan, Niranjana, Neil, Jeffrey J., Ness, Kathryn D., Neu, Josef, Siu-Ying, Angel, Noori, Shahab, O'Mahony, Lila, Palma, Jonathan P., Paneth, Nigel, Parker, Thomas A., Patel, Ravi Mangal, Penn, Anna A., Pettker, Christian M., Peyvandi, Shabnam, Pihoker, Cate, Plosa, Erin, Poindexter, Brenda B., Posencheg, Michael A., Reinking, Benjamin E., Rice-Townsend, Samuel, Richards, Morgan K., Richardson, C. Peter, Richardson, Kelsey, Riggle, Kevin M., Robbins, Elizabeth, Rollins, Mark D., Rosen, Mark A., Rowe, Courtney K., Sahai, Inderneel, Saitta, Sulagna C., Salehi, Parisa, Sanchez, Pablo, Saxonhouse, Matthew A., Schanler, Richard J., Schleiss, Mark R., Scholz, Thomas, Schwaderer, Andrew L., Selewski, David, Sellers, Zachary M., Seri, Istvan, Shnorhavorian, Margarett, Sibley, Eric, Sidbury, Robert, Simmons, Rebecca, Smith, Caitlin, Sola-Visner, Martha C., Srinivasan, Lakshmi, Steinhorn, Robin H., Stevenson, David K., Stolp, Helen, Taplin, Craig, Tarczy-Hornoch, Peter, Taylor, James A., Thomas, Janet A., Thompson, Tracy, Tiller, George E., Torres, Benjamin A., Traudt, Christopher Michael, van den Anker, John N., Vernon, Margaret M., Vohr, Betty, Walker, Valencia P., Wallen, Linda D., Wallenstein, Matthew B., Wang, Peter (Zhan Tao), Warady, Bradley A., Ward, Robert M., Watchko, Jon F., Wehbi, Elias, Weitkamp, Joern-Hendrik, Werny, David, White, Klane K., Willig, Laurel, Woodrum, David, Woodward, George A., Wright, Clyde J., Wright, Jeffrey A., Yonekawa, Karyn, Zackai, Elaine H.

Source: In Avery's Diseases of the Newborn Edition: Tenth Edition. 2018:vii-xx