13 Publications
2012
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
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
2007
A case of de novo partial tetrasomy of distal 6p and review of the literature.
Stohler, Ryan⋅Kucharski, Ellen⋅Farrow, Emily⋅Torres Martinez, Wilfredo⋅Delk, Paula⋅Thurston, Virginia C and Vance, Gail H
American journal of medical genetics. Part A, vol. 143A, (no. 17), pp. 1978-83, 2007/Sep/1. | 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. 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
 
Two cases further delineating the Sakoda complex
Dempsey, Melissa A⋅Torres Martinez, Wilfredo and Walsh, Laurence E
American Journal of Medical Genetics Part A, vol. 143A, (no. 4), pp. 370-376, 2007. | Journal Article
 
Two cases further delineating the Sakoda complex.
Dempsey, Melissa A⋅Torres Martinez, Wilfredo and Walsh, Laurence E
American journal of medical genetics. Part A, vol. 143, (no. 4), pp. 370-6, 2007/Feb/15. | Journal Article
2005
A report of three patients with an interstitial deletion of chromosome 15q24
Cushman, Lisa J⋅Torres Martinez, Wilfredo⋅Cherry, Athena⋅Manning, Melanie⋅Abdul Rahman, Omar⋅Anderson, Carol E⋅Punnett, Hope H⋅Thurston, Virginia C⋅Sweeney, Danielle and Vance, Gail H
American Journal of Medical Genetics Part A, vol. 137A, (no. 1), pp. 65-71, 2005. | Journal Article
 
A report of three patients with an interstitial deletion of chromosome 15q24.
Cushman, Lisa J⋅Torres Martinez, Wilfredo⋅Cherry, Athena⋅Manning, Melanie⋅Abdul-Rahman, Omar⋅Anderson, Carol E⋅Punnett, Hope H⋅Thurston, Virginia C⋅Sweeney, Danielle and Vance, Gail H
American journal of medical genetics. Part A, vol. 137, (no. 1), pp. 65-71, 2005/Aug/15. | Journal Article
 
Johnson-McMillin syndrome: report of a new case with novel features.
Cushman, Lisa J⋅Torres Martinez, Wilfredo and Weaver, David D
Birth defects research. Part A, Clinical and molecular teratology, vol. 73, (no. 9), pp. 638-41, 2005/Sep. | Journal Article
 
Partial trisomy 2q: report of a patient with dup (2)(q33.1q35).
Sebold, Courtney D⋅Romie, Susan S⋅Szymanska, Jadwiga⋅Torres Martinez, Wilfredo⋅Thurston, Virginia C⋅Muesing, Catherine and Vance, Gail H
American journal of medical genetics. Part A, vol. 134, (no. 1), pp. 80-3, 2005/Apr/1. | Journal Article
 
Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35)
Sebold, Courtney D⋅Romie, Susan S⋅Szymanska, Jadwiga⋅Torres Martinez, Wilfredo⋅Thurston, Virginia C⋅Muesing, Catherine and Vance, Gail H
American Journal of Medical Genetics Part A, vol. 134A, (no. 1), pp. 80-83, 2005. | Journal Article