WilfredoTorres-MartinezMD

Medical Genetics • Indianapolis, IN

Clinical Genetics

Associate Professor, Medical & Molecular Genetics, Indiana University School of Medicine

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Office
975 West Walnut Street IB-130
Indianapolis, IN 46202
Phone+1 317-948-0683

Fax+1 317-968-1354
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Education & Training

University of Illinois College of Medicine at ChicagoResidency, Obstetrics and Gynecology, 1990 - 1992
New York Medical College (Brooklyn-Queens)Residency, Obstetrics and Gynecology, 1986 - 1990
Universidad Central del Caribe School of MedicineClass of 1986, MD

Certifications & Licensure

IN State Medical License 1995 - 2023
IL State Medical License 1990 - 1993
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.
Taylor A Steyer, Priscila D Hodges, Caroline E Rouse, Wilfredo Torres-Martinez, Leah Wetherill, Karrie A Hines> ;Journal of Genetic Counseling. 2023 Oct 1
9 citations
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Carolyn Horton, Ashley Cass, Blair R Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessi...> ;NPJ Genomic Medicine. 2022 Aug 25
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Aiko Iwata-Otsubo, Kahlen R Darr, Wilfredo Torres-Martinez, Jennelle C Hodge> ;Cytogenetic and Genome Research. 2022 Jan 1
2 citations
A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
Susan Cordes Selby, Aiko Iwata-Otsubo, Paula Delk, Todd D. Nebesio, Anisha Gohil, Peggy Matlock, Wilfredo Torres-Martinez, Gail H. Vance> ;Clinical Case Reports. 2021 May 6
2 citations
Positive and negative professionalism experiences of genetic counseling students in the United States and Canada
Pauline Aamodt, Leah Wetherill, Paula Delk, Wilfredo Torres-Martinez, Gail H. Vance, Melissa Wesson> ;Journal of Genetic Counseling. 2021 Apr 1
3 citations
Fetal MRI and ultrasound findings of a confirmed asparagine synthetase deficiency case.
Lauren E. Churchill, Paula Delk, Theodore E. Wilson, Wilfredo Torres-Martinez, Caroline E. Rouse, Megan B. Marine, Julie L. Piechan> ;Prenatal Diagnosis. 2020 Sep 1
6 citations
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Georgianne Younger, Francesco Vetrini, David D. Weaver, Ty C. Lynnes, Kayla Treat, Victoria M. Pratt, Wilfredo Torres-Martinez> ;American Journal of Medical Genetics. Part A. 2020 Sep 1
17 citations
Phenotype delineation of ZNF462 related syndrome
Paul Kruszka, Tommy Hu, Sung-Kook Hong, Rebecca Signer, Benjamin Cogné, Betrand Isidor, Sarah E. Mazzola, Jacques C. Giltay, Koen L.I. van Gassen, Eleina M. England, L...> ;American Journal of Medical Genetics. Part A. 2019 Oct 1
4 citations
Sinus pericranii in achondroplasia: a case report and review of the literature.
Abbey A. Scott, Katelyn D. Hodge, Wilfredo Torres-Martinez, Stephen R. Dlouhy, Jodi L. Smith, David D. Weaver> ;Clinical Dysmorphology. 2017 Oct 1
34 citations
NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result
Julie L. Piechan, Karrie A. Hines, Daniel L. Koller, Kristyne M. Stone, Kimberly A. Quaid, Wilfredo Torres-Martinez, Divya Wilson Mathews, Tatiana Foroud, Lola Cook> ;Journal of Genetic Counseling. 2016 Apr 1
5 citations
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.
Anna S. Victorine, Jennifer Weida, Karrie A. Hines, Barrett K. Robinson, Wilfredo Torres-Martinez, David D. Weaver> ;American Journal of Medical Genetics. Part A. 2014 Mar 1
2 citations
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?
Jessica L. Roberts, Wilfredo Torres-Martinez, Emily G. Farrow, Abby K. Stevens, Paula Delk, Kenneth E. White, David D. Weaver> ;American Journal of Medical Genetics. Part A. 2014 Feb 1
92 citations
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y. Divon, Lisa Ximena Rodríguez Rojas, Lindsay E. Elton, Daryl A. Scott, Christia...> ;Genome Research. 2013 Sep 1
40 citations
Genotype-phenotype correlation in interstitial 6q deletions: A report of 12 new cases
Jill A. Rosenfeld, Dina Amrom, Eva Andermann, Frederick Andermann, Martin Veilleux, Cynthia J. Curry, Jamie Fisher, Arthur S. Aylsworth, Cynthia M. Powell, Kandamurugu...> ;Neurogenetics. 2012 Jan 5
4 citations
Spurious case of XX maleness in a patient with a history of Wiskott-Aldrich syndrome.
Todd D. Nebesio, Wilfredo Torres-Martinez, Richard C. Rink, Erica A. Eugster> ;Endocrine Practice. 2011 Mar 1
17 citations
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.
Paul R. Mark, Wilfredo Torres-Martinez, Ralph S. Lachman, David D. Weaver> ;American Journal of Medical Genetics. Part A. 2011 Jan 1
149 citations
Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease
Naomi J. Lohr, Jean P. Molleston, Kevin A. Strauss, Wilfredo Torres-Martinez, Eric A. Sherman, Robert H. Squires, Nicholas L. Rider, Kudakwashe R. Chikwava, Oscar W. C...> ;American Journal of Human Genetics. 2010 Mar 12
25 citations
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?†
Cezary Wojcik, Kim Volz, Maria Ranola, Karla Kitch, Tariza Karim, Joseph O'Neil, Jodi L. Smith, Wilfredo Torres-Martinez> ;American Journal of Medical Genetics. Part A. 2010 Feb 1
11 citations
A case of de novo partial tetrasomy of distal 6p and review of the literature
Ryan Stohler, Ellen Kucharski, Emily G. Farrow, Wilfredo Torres-Martinez, Paula Delk, Virginia C. Thurston, Gail H. Vance> ;American Journal of Medical Genetics. Part A. 2007 Sep 1
20 citations
On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.
Cristin A. Heyroth-Griffis, David D. Weaver, Philip R. Faught, Gary A. Bellus, Wilfredo Torres-Martinez> ;American Journal of Medical Genetics. Part A. 2007 May 15
3 citations
Two cases further delineating the Sakoda complex
Melissa A Dempsey, Wilfredo Torres-Martinez, Laurence E. Walsh> ;American Journal of Medical Genetics. Part A. 2007 Feb 15
40 citations
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matt...> ;Human Mutation. 2007 Feb 1
9 citations
Johnson-McMillin syndrome: report of a new case with novel features.
Lisa J. Cushman, Wilfredo Torres-Martinez, David D. Weaver> ;Birth Defects Research. Part A, Clinical and Molecular Teratology. 2005 Sep 1
28 citations
A report of three patients with an interstitial deletion of chromosome 15q24
Lisa J. Cushman, Wilfredo Torres-Martinez, Athena M. Cherry, Melanie A. Manning, Omar A Abdul-Rahman, Carol E. Anderson, Hope H. Punnett, Virginia C. Thurston, Daniell...> ;American Journal of Medical Genetics. Part A. 2005 Aug 15
9 citations
Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35)
Courtney Sebold, Susan Romie, Jadwiga Szymanska, Wilfredo Torres-Martinez, Virginia C. Thurston, Catherine Muesing, Gail H. Vance> ;American Journal of Medical Genetics. Part A. 2005 Apr 1
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Hospital Affiliations

Eskenazi HealthIndianapolis, Indiana
Memorial Hospital of South BendSouth Bend, Indiana
Indiana University Health University HospitalIndianapolis, Indiana
Indiana University Health North HospitalCarmel, Indiana