34 Publications (Page 1 of 2)
2015
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?
Jackson, Jessica⋅Delk, Paula⋅Farrow, Emily⋅Griffith, Christopher⋅Lah, Melissa and Weaver, David D
American journal of medical genetics. Part A, vol. 167A, (no. 4), pp. 683-687, April 2015. | Journal Article
 
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Gordon, Christopher T⋅Gordon, C.T.⋅Weaver, K.N.⋅Weaver, K Nicole⋅Zechi-Ceide, R.M.⋅Zechi-Ceide, Roseli Maria⋅Madsen, Erik C⋅Madsen, E.C.⋅Tavares, Andre L P⋅Tavares, A.L.P.⋅Oufadem, M.⋅Oufadem, Myriam⋅Kurihara, Yukiko⋅Kurihara, Y.⋅Adameyko, Igor⋅Adameyko, I.⋅Picard, Arnaud⋅Picard, A.⋅Breton, S.⋅Breton, Sylvain⋅Pierrot, S.⋅Pierrot, Sébastien⋅Biosse-Duplan, M.⋅Biosse-Duplan, Martin⋅Voisin, Norine⋅Voisin, N.⋅Masson, C.⋅Masson, Cécile⋅Bole-Feysot, C.⋅Bole-Feysot, Christine⋅Nitschké, Patrick⋅Nitschké, P.⋅Delrue, M.-A.⋅Delrue, Marie-Ange⋅Lacombe, Didier⋅Lacombe, D.⋅Guion-Almeida, M.L.⋅Guion-Almeida, Maria Leine⋅Moura, Priscila Padilha⋅Moura, P.P.⋅Garib, Daniela Gamba⋅Garib, D.G.⋅Munnich, Arnold⋅Munnich, A.⋅Ernfors, Patrik⋅Ernfors, P.⋅Hufnagel, Robert B⋅Hufnagel, R.B.⋅Hopkin, R.J.⋅Hopkin, Robert J⋅Kurihara, Hiroki⋅Kurihara, H.⋅Saal, H.M.⋅Saal, Howard M⋅Weaver, D.D.⋅Weaver, David D⋅Katsanis, N.⋅Katsanis, Nicholas⋅Lyonnet, Stanislas⋅Lyonnet, S.⋅Golzio, C.⋅Golzio, Christelle⋅Clouthier, David E⋅Clouthier, D.E.⋅Amiel, J. and Amiel, Jeanne
American journal of human genetics, vol. 96, (no. 4), pp. 519-531, April 2, 2015. | Journal Article
2014
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
Roberts, Jessica⋅Torres-Martinez, Wilfredo⋅Farrow, Emily⋅Stevens, Abby⋅Delk, Paula⋅White, Kenneth E and Weaver, David D
American journal of medical genetics. Part A, vol. 164A, (no. 2), pp. 287-290, February 2014. | Journal Article
 
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
Jorgez, Carolina J⋅Rosenfeld, Jill A⋅Wilken, Nathan R⋅Vangapandu, Hima V⋅Sahin, Aysegul⋅Pham, Dung⋅Carvalho, Claudia M B⋅Bandholz, Anne⋅Miller, Amanda⋅Weaver, David D⋅Burton, Barbara⋅Babu, Deepti⋅Bamforth, John S⋅Wilks, Timothy⋅Flynn, Daniel P⋅Roeder, Elizabeth⋅Patel, Ankita⋅Cheung, Sau W⋅Lupski, James R and Lamb, Dolores J
PloS one, vol. 9, (no. 9), pp. e107028, 2014. | Journal Article
 
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin, Margaret J⋅Beck, Anita⋅Chong, Jessica X⋅Shively, Kathryn M⋅Buckingham, Kati J⋅Gildersleeve, Heidi I⋅Aracena, Mariana I⋅Aylsworth, Arthur S⋅Bitoun, Pierre⋅Carey, John C⋅Clericuzio, Carol⋅Crow, Yanick⋅Curry, Cynthia J⋅Devriendt, Koenraad⋅Everman, David B⋅Fryer, Alan⋅Gibson, Kate⋅Giovannucci Uzielli, Maria L⋅Graham, John M⋅Hall, Judith G⋅Hecht, Jacqueline T⋅Heidenreich, Randall⋅Hurst, Jane A⋅Irani, Sarosh⋅Krapels, Ingrid P⋅Leroy, Jules G⋅Mowat, David⋅Plant, Gordon T⋅Robertson, Stephen P⋅Schorry, Elizabeth K⋅Scott, Richard H⋅Seaver, Laurie H⋅Sherr, Elliott H⋅Splitt, Miranda⋅Stewart, Helen⋅Stumpel, Constance⋅Temel, Sehime G⋅Weaver, David D⋅Whiteford, Margo⋅Williams, Marc S⋅Tabor, Holly K⋅Smith, Joshua D⋅Shendure, Jay⋅Nickerson, Debbie⋅Bamshad, Michael J and Bamshad, Michael J
American journal of human genetics, vol. 94, (no. 5), pp. 734-44, 2014/May/1. | Journal Article
2013
Two Decades of Huntington Disease Testing: Patient's Demographics and Reproductive Choices
Krukenberg, Rebekah⋅Krukenberg, Rebekah C.⋅Koller, Daniel L.⋅Koller, Daniel⋅Weaver, David⋅Weaver, David D.⋅Dickerson, Jennifer N.⋅Dickerson, Jennifer⋅Quaid, Kimberly A. and Quaid, Kimberly
Journal of Genetic Counseling, vol. 22, (no. 5), pp. 643-53, Oct 2013. | Journal Article
2012
A case of multiple congenital anomalies including unusual ear nodules and finger contractures: a new genetic syndrome?
Davis, Morgan E⋅Stevens, Abby K and Weaver, David D
Clinical dysmorphology, vol. 21, (no. 4), pp. 218-221, October 2012. | Journal Article
 
Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.
Henson, Kaylee E⋅Hines, Karrie A⋅Weaver, David D⋅Torres Martinez, Wilfredo⋅Verbrugge, Jennifer⋅Stone, Kristyne and Vance, Gail H
American journal of medical genetics. Part A, vol. 158A, (no. 7), pp. 1788-92, 2012/Jul. | Journal Article
 
Mutations in EZH2 cause Weaver syndrome.
Gibson, William T⋅Hood, Rebecca L⋅Zhan, Shing H⋅Bulman, Dennis E⋅Fejes, Anthony P⋅Moore, Richard⋅Mungall, Andrew J⋅Eydoux, Patrice⋅Babul-Hirji, Riyana⋅An, Jianghong⋅Marra, Marco⋅Chitayat, David⋅Chitayat, David⋅Boycott, Kym⋅Boycott, Kym M⋅Weaver, David D⋅Weaver, David D⋅Jones, Steven and Jones, Steven J M
American journal of human genetics, vol. 90, (no. 1), pp. 110-118, January 13, 2012. | Journal Article
 
Report of a mother and daughter with the 12q14 microdeletion syndrome.
Bibb, Audrey L⋅Rosenfeld, Jill A and Weaver, David D
American journal of medical genetics. Part A, vol. 158A, (no. 2), pp. 417-422, February 2012. | Journal Article
2011
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family
Mark, Paul R⋅Torres Martinez, Wilfredo⋅Lachman, Ralph S and Weaver, David D
American Journal of Medical Genetics Part A, vol. 155, (no. 1), pp. 174-179, 2011. | Journal Article
 
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
Mark, Paul R⋅Torres Martinez, Wilfredo⋅Lachman, Ralph S and Weaver, David D
American journal of medical genetics. Part A, vol. 155A, (no. 1), pp. 174-9, 2011/Jan. | Journal Article
 
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
Rosenfeld, Jill A⋅Stephens, Lindsey E⋅Coppinger, Justine⋅Ballif, Blake C⋅Hoo, Joe J⋅French, Beatrice N⋅Banks, Valerie C⋅Smith, Wendy E⋅Manchester, David⋅Tsai, Anne C⋅Merrion, Katrina⋅Mendoza-Londono, Roberto⋅Dupuis, Lucie⋅Schultz, Roger⋅Torchia, Beth⋅Sahoo, Trilochan⋅Bejjani, Bassem⋅Weaver, David D and Shaffer, Lisa G
European Journal of Human Genetics, vol. 19, (no. 5), pp. 547-554, 2011. | Journal Article
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan, Santhosh⋅Girirajan, Santhosh⋅Girirajan, Santhosh⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Cooper, Gregory M⋅Cooper, Gregory M⋅Cooper, Gregory M⋅Antonacci, Francesca⋅Antonacci, Francesca⋅Antonacci, Francesca⋅Siswara, Priscillia⋅Siswara, Priscillia⋅Siswara, Priscillia⋅Itsara, Andy⋅Itsara, Andy⋅Itsara, Andy⋅Vives, Laura⋅Vives, Laura⋅Vives, Laura⋅Walsh, Tom⋅Walsh, Tom⋅Walsh, Tom⋅McCarthy, Shane E⋅McCarthy, Shane E⋅McCarthy, Shane E⋅Baker, Carl⋅Baker, Carl⋅Baker, Carl⋅Mefford, Heather⋅Mefford, Heather C⋅Mefford, Heather C⋅Kidd, Jeffrey⋅Kidd, Jeffrey M⋅Kidd, Jeffrey M⋅Browning, Sharon R⋅Browning, Sharon R⋅Browning, Sharon R⋅Browning, Brian L⋅Browning, Brian L⋅Browning, Brian L⋅Dickel, Diane E⋅Dickel, Diane E⋅Dickel, Diane E⋅Levy, Deborah L⋅Levy, Deborah L⋅Levy, Deborah L⋅Ballif, Blake C⋅Ballif, Blake C⋅Ballif, Blake C⋅Platky, Kathryn⋅Platky, Kathryn⋅Platky, Kathryn⋅Farber, Darren M⋅Farber, Darren M⋅Farber, Darren M⋅Gowans, Gordon C⋅Gowans, Gordon C⋅Gowans, Gordon C⋅Wetherbee, Jessica J⋅Wetherbee, Jessica J⋅Wetherbee, Jessica J⋅Asamoah, Alexander⋅Asamoah, Alexander⋅Asamoah, Alexander⋅Weaver, David D⋅Weaver, David D⋅Weaver, David D⋅Mark, Paul R⋅Mark, Paul R⋅Mark, Paul R⋅Dickerson, Jennifer⋅Dickerson, Jennifer⋅Dickerson, Jennifer⋅Garg, Bhuwan P⋅Garg, Bhuwan P⋅Garg, Bhuwan P⋅Ellingwood, Sara A⋅Ellingwood, Sara A⋅Ellingwood, Sara A⋅Smith, Rosemarie⋅Smith, Rosemarie⋅Smith, Rosemarie⋅Banks, Valerie C⋅Banks, Valerie C⋅Banks, Valerie C⋅Smith, Wendy⋅Smith, Wendy⋅Smith, Wendy⋅McDonald, Marie T⋅McDonald, Marie T⋅Mc Donald, Marie T⋅Hoo, Joe J⋅Hoo, Joe J⋅Hoo, Joe J⋅French, Beatrice N⋅French, Beatrice N⋅French, Beatrice N⋅Hudson, Cindy⋅Hudson, Cindy⋅Hudson, Cindy⋅Johnson, John P⋅Johnson, John P⋅Johnson, John P⋅Ozmore, Jillian R⋅Ozmore, Jillian R⋅Ozmore, Jillian R⋅Moeschler, John B⋅Moeschler, John B⋅Moeschler, John B⋅Surti, Urvashi⋅Surti, Urvashi⋅Surti, Urvashi⋅Escobar, Luis F⋅Escobar, Luis F⋅Escobar, Luis F⋅El-Khechen, Dima⋅El-Khechen, Dima⋅El-Khechen, Dima⋅Gorski, Jerome L⋅Gorski, Jerome L⋅Gorski, Jerome L⋅Kussmann, Jennifer⋅Kussmann, Jennifer⋅Kussmann, Jennifer⋅Salbert, Bonnie⋅Salbert, Bonnie⋅Salbert, Bonnie⋅Lacassie, Yves⋅Lacassie, Yves⋅Lacassie, Yves⋅Biser, Alisha⋅Biser, Alisha⋅Biser, Alisha⋅McDonald-McGinn, Donna M⋅McDonald-McGinn, Donna M⋅McDonald-McGinn, Donna M⋅Zackai, Elaine H⋅Zackai, Elaine H⋅Zackai, Elaine H⋅Deardorff, Matthew A⋅Deardorff, Matthew A⋅Deardorff, Matthew A⋅Shaikh, Tamim H⋅Shaikh, Tamim H⋅Shaikh, Tamim H⋅Haan, Eric⋅Haan, Eric⋅Haan, Eric⋅Friend, Kathryn L⋅Friend, Kathryn L⋅Friend, Kathryn L⋅Fichera, Marco⋅Fichera, Marco⋅Fichera, Marco⋅Romano, Corrado⋅Romano, Corrado⋅Romano, Corrado⋅Gécz, Jozef⋅Gecz, Jozef⋅Gécz, Jozef⋅De Lisi, Lynn E⋅DeLisi, Lynn E⋅DeLisi, Lynn E⋅Sebat, Jonathan⋅Sebat, Jonathan⋅Sebat, Jonathan⋅King, Mary Claire⋅King, Mary-Claire⋅King, Mary-Claire⋅Shaffer, Lisa G⋅Shaffer, Lisa G⋅Shaffer, Lisa G⋅Eichler, Evan E⋅Eichler, Evan and Eichler, Evan E
Nature genetics, vol. 42, (no. 3), pp. 203-9, 2010/Mar. | Journal Article
 
A tale of two deletions: A report of two novel 20p13 Delta RT pter deletions
McGill, Anna K⋅Pastore, Matthew T⋅Herman, Gail E⋅Alliman, Sarah⋅Rosenfeld, Jill A and Weaver, David D
American Journal of Medical Genetics Part A, vol. 152A, (no. 4), pp. 1000-1007, 2010. | Journal Article
 
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
McGill, Anna K⋅Pastore, Matthew T⋅Herman, Gail E⋅Alliman, Sarah⋅Rosenfeld, Jill A and Weaver, David D
American journal of medical genetics. Part A, vol. 152A, (no. 4), pp. 1000-7, 2010/Apr. | Journal Article
 
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism
Weaver, David D⋅Solomon, Benjamin D⋅Akin-Samson, Kelly⋅Kelley, Richard I and Muenke, Maximilian
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 154C, (no. 1), pp. 142-145, 2010. | Journal Article
 
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
Weaver, David D⋅Solomon, Benjamin D⋅Akin-Samson, Kelly⋅Kelley, Richard I and Muenke, Maximilian
American journal of medical genetics. Part C, Seminars in medical genetics, vol. 154C, (no. 1), pp. 142-5, 2010/Feb/15. | Journal Article
2009
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
Coppinger, Justine⋅McDonald-McGinn, Donna⋅Zackai, Elaine⋅Shane, Kate⋅Atkin, Joan F⋅Asamoah, Alexander⋅Leland, Robert⋅Weaver, David D⋅Lansky-Shafer, Susan⋅Schmidt, Karen⋅Feldman, Heidi⋅Cohen, William⋅Phalin, Judy⋅Powell, Berkley⋅Ballif, Blake C⋅Theisen, Aaron⋅Geiger, Elizabeth⋅Haldeman Englert, Chad⋅Shaikh, Tamim H⋅Saitta, Sulagna⋅Bejjani, Bassem and Shaffer, Lisa G
Human Molecular Genetics, vol. 18, (no. 8), pp. 1377-1383, 2009. | Journal Article
2008
A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones
Heyen, Candy A⋅Heyen, Candy A⋅Heyen, Candy A⋅Delk, Paula R⋅Delk, Paula R⋅Delk, Paula R⋅Bull, Marilyn J⋅Bull, Marilyn J⋅Bull, Marilyn J⋅Weaver, David D⋅Weaver, David D and Weaver, David D
American Journal of Medical Genetics Part A, vol. 146A, (no. 24), pp. 3120-3125, 2008. | Journal Article
 
A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.
Heyen, Candy A⋅Delk, Paula R⋅Bull, Marilyn J and Weaver, David D
American journal of medical genetics. Part A, vol. 146A, (no. 24), pp. 3120-5, 2008/Dec/15. | Journal Article
2007
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence
Heyroth-Griffis, Cristin A⋅Weaver, David D⋅Faught, Philip⋅Bellus, Gary A and Torres Martinez, Wilfredo
American Journal of Medical Genetics Part A, vol. 143A, (no. 10), pp. 1025-1031, 2007. | Journal Article
 
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.
Heyroth-Griffis, Cristin A⋅Weaver, David D⋅Faught, Philip⋅Bellus, Gary A and Torres Martinez, Wilfredo
American journal of medical genetics. Part A, vol. 143, (no. 10), pp. 1025-31, 2007/May/15. | Journal Article
2005
Adults with VATER association: long-term prognosis.
Wheeler, Patricia G and Weaver, David D
American journal of medical genetics. Part A, vol. 138, (no. 3), pp. 212-7, 2005/Oct/15. | Journal Article
 
Adults with VATER association: Long-term prognosis
Wheeler, Patricia G and Weaver, David D
American Journal of Medical Genetics Part A, vol. 138A, (no. 3), pp. 212-217, 2005. | Journal Article