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Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1194, doi. 10.3390/jpm11111194
By:
- Kauffman, Tia L.;
- Prado, Yolanda K.;
- Reyes, Ana A.;
- Zepp, Jamilyn M.;
- Sawyer, Jennifer;
- White, Larissa Lee;
- Martucci, Jessica;
- Salas, Suzanne Bianca;
- Vertrees, Sarah;
- Rope, Alan F.;
- Weinmann, Sheila;
- Henrikson, Nora B.;
- Lee, Sandra Soo-Jin;
- Feigelson, Heather Spencer;
- Hunter, Jessica Ezzell
Publication type:
Article
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Published in:
2020
By:
- Toydemir, Reha M.;
- Panza, Emanuele;
- Longhurst, Maria C.;
- South, Sarah T.;
- Rope, alan F.
Publication type:
Abstract
Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.
Published in:
Hereditary Cancer in Clinical Practice, 2019, v. 17, n. 1, p. 1, doi. 10.1186/s13053-019-0130-8
By:
- Mittendorf, Kathleen F.;
- Hunter, Jessica Ezzell;
- Schneider, Jennifer L.;
- Shuster, Elizabeth;
- Rope, Alan F.;
- Zepp, Jamilyn;
- Gilmore, Marian J.;
- Muessig, Kristin R.;
- Davis, James V.;
- Kauffman, Tia L.;
- Bergen, Kellene M.;
- Wiesner, Georgia L.;
- Acheson, Louise S.;
- Peterson, Susan K.;
- Syngal, Sapna;
- Reiss, Jacob A.;
- Goddard, Katrina A. B.
Publication type:
Article
Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.
Published in:
Hereditary Cancer in Clinical Practice, 2018, v. 16, n. 1, p. N.PAG, doi. 10.1186/s13053-018-0090-4
By:
- Schneider, Jennifer L.;
- Goddard, Katrina A. B.;
- Muessig, Kristin R.;
- Davis, James V.;
- Rope, Alan F.;
- Hunter, Jessica E.;
- Peterson, Susan K.;
- Acheson, Louise S.;
- Syngal, Sapna;
- Wiesner, Georgia L.;
- Reiss, Jacob A.
Publication type:
Article
Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study.
Published in:
Public Health Genomics, 2024, v. 27, n. 1, p. 16, doi. 10.1159/000535610
By:
- Gilmore, Marian J.;
- Knerr, Sarah;
- Kraft, Stephanie A.;
- Bulkley, Joanna E.;
- Biesecker, Barbara B.;
- Feigelson, Heather Spencer;
- Hunter, Jessica Ezzell;
- Jenkins, Charisma L.;
- Kauffman, Tia L.;
- Lee, Sandra Soo-Jin;
- Liles, Elizabeth G.;
- Mittendorf, Kathleen F.;
- Muessig, Kristin R.;
- Porter, Kathryn M.;
- Rolf, Bradley A.;
- Rope, Alan F.;
- Zepp, Jamilyn M.;
- Anderson, Katherine Patrice;
- Devine, Beth;
- Joseph, Galen
Publication type:
Article
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 574, doi. 10.1002/ajmg.a.37477
By:
- Leo, Michael C.;
- McMullen, Carmit;
- Wilfond, Benjamin S.;
- Lynch, Frances L.;
- Reiss, Jacob A.;
- Gilmore, Marian J.;
- Himes, Patricia;
- Kauffman, Tia L.;
- Davis, James V.;
- Jarvik, Gail P.;
- Berg, Jonathan S.;
- Harding, Cary;
- Kennedy, Kathleen A.;
- Simpson, Dana Kostiner;
- Quigley, Denise I.;
- Richards, C. Sue;
- Rope, Alan F.;
- Goddard, Katrina A. B.
Publication type:
Article
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 565, doi. 10.1002/ajmg.a.37513
By:
- Korngiebel, Diane M.;
- McMullen, Carmit K.;
- Amendola, Laura M.;
- Berg, Jonathan S.;
- Davis, James V.;
- Gilmore, Marian J.;
- Harding, Cary O.;
- Himes, Patricia;
- Jarvik, Gail P.;
- Kauffman, Tia L.;
- Kennedy, Kathleen A.;
- Simpson, Dana Kostiner;
- Leo, Michael C.;
- Lynch, Frances L.;
- Quigley, Denise I.;
- Reiss, Jacob A.;
- Richards, C. Sue;
- Rope, Alan F.;
- Schneider, Jennifer L.;
- Goddard, Katrina A. B.
Publication type:
Article
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2916, doi. 10.1002/ajmg.a.37340
By:
- Morris, Colleen A.;
- Mervis, Carolyn B.;
- Paciorkowski, Alex P.;
- Abdul‐Rahman, Omar;
- Dugan, Sarah L.;
- Rope, Alan F.;
- Bader, Patricia;
- Hendon, Laura G.;
- Velleman, Shelley L.;
- Klein‐Tasman, Bonita P.;
- Osborne, Lucy R.
Publication type:
Article
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1747, doi. 10.1002/ajmg.a.37085
By:
- Wooderchak‐Donahue, Whitney;
- VanSant‐Webb, Chad;
- Tvrdik, Tatiana;
- Plant, Parker;
- Lewis, Tracey;
- Stocks, Jennifer;
- Raney, Joshua A.;
- Meyers, Lindsay;
- Berg, Alizabeth;
- Rope, Alan F.;
- Yetman, Anji T.;
- Bleyl, Steven B.;
- Mesley, Rebecca;
- Bull, David A.;
- Collins, R. Thomas;
- Ojeda, Mayra Martinez;
- Roberts, Amy;
- Lacro, Ronald;
- Woerner, Audrey;
- Stoler, Joan
Publication type:
Article
Neural tube defects and atypical deletion on 22q11.2.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2701, doi. 10.1002/ajmg.a.36701
By:
- Leoni, Chiara;
- Stevenson, David A.;
- Geiersbach, Katherine B.;
- Paxton, Christian N.;
- Krock, Bryan L.;
- Mao, Rong;
- Rope, Alan F.
Publication type:
Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3148, doi. 10.1002/ajmg.a.35665
By:
- Longoni, Mauro;
- Lage, Kasper;
- Russell, Meaghan K.;
- Loscertales, Maria;
- Abdul-Rahman, Omar A.;
- Baynam, Gareth;
- Bleyl, Steven B.;
- Brady, Paul D.;
- Breckpot, Jeroen;
- Chen, Chih P.;
- Devriendt, Koenraad;
- Gillessen-Kaesbach, Gabriele;
- Grix, Arthur W.;
- Rope, Alan F.;
- Shimokawa, Osamu;
- Strauss, Bernarda;
- Wieczorek, Dagmar;
- Zackai, Elaine H.;
- Coletti, Caroline M.;
- Maalouf, Faouzi I.
Publication type:
Article
Genetic Testing Uptake among Ovarian Cancer Survivors in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study.
Published in:
Cancers, 2024, v. 16, n. 14, p. 2563, doi. 10.3390/cancers16142563
By:
- White, Larissa L.;
- Sawyer, Jennifer K.;
- Zepp, Jamilyn M.;
- Prado, Yolanda K.;
- Reyes, Ana A.;
- Maiyani, Mahesh;
- Shuster, Elizabeth;
- Zucker, Rachel;
- Henrikson, Nora B.;
- Rope, Alan F.;
- Weinmann, Sheila;
- Feigelson, Heather S.;
- Ezzell Hunter, Jessica
Publication type:
Article
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
Published in:
BMC Medical Genomics, 2012, v. 5, n. 1, p. 50, doi. 10.1186/1755-8794-5-50
By:
- Wooderchak-Donahue, Whitney L.;
- O¨Fallon, Brendan;
- Furtado, Larissa V.;
- Durtschi, Jacob D.;
- Plant, Parker;
- Ridge, Perry G.;
- Rope, Alan F.;
- Yetman, Angela T.;
- Bayrak-Toydemir, Pinar
Publication type:
Article
An Examination of the Ethical and Legal Limits in Implementing "Traceback Testing" for Deceased Patients.
Published in:
Journal of Law, Medicine & Ethics, 2022, v. 50, n. 4, p. 818, doi. 10.1017/jme.2023.23
By:
- Martucci, Jessica;
- Prado, Yolanda;
- Rope, Alan F.;
- Weinmann, Sheila;
- White, Larissa;
- Zepp, Jamilyn;
- Henrikson, Nora B.;
- Feigelson, Heather Spencer;
- Hunter, Jessica Ezzell;
- Lee, Sandra Soo-Jin
Publication type:
Article
A case for expanding carrier testing to include actionable X‐linked disorders.
Published in:
2018
By:
- Rope, Alan F.;
- Kauffman, Tia L.;
- Himes, Pat;
- Amendola, Laura M.;
- Punj, Sumit;
- Akkari, Yassmine;
- Potter, Amiee;
- Davis, James V.;
- Schneider, Jennifer L.;
- Reiss, Jacob A.;
- Gilmore, Mari J.;
- McMullen, Carmit K.;
- Nickerson, Deborah A.;
- Richards, C. Sue;
- Jarvik, Gail P.;
- Wilfond, Benjamin S.;
- Goddard, Katrina A. B.
Publication type:
Case Study
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
By:
- Cheng, Hanyin;
- Gottlieb, Leah;
- Marchi, Elaine;
- Kleyner, Robert;
- Bhardwaj, Puja;
- Rope, Alan F;
- Rosenheck, Sarah;
- Moutton, Sébastien;
- Philippe, Christophe;
- Eyaid, Wafaa;
- Alkuraya, Fowzan S;
- Toribio, Janet;
- Mena, Rafael;
- Prada, Carlos E;
- Stessman, Holly;
- Bernier, Raphael;
- Wermuth, Marieke;
- Kauffmann, Birgit;
- Blaumeiser, Bettina;
- Kooy, R Frank
Publication type:
Article
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.
Published in:
Familial Cancer, 2019, v. 18, n. 3, p. 317, doi. 10.1007/s10689-019-00123-x
By:
- Clarke, Elizabeth V.;
- Muessig, Kristin R.;
- Zepp, Jamilyn;
- Hunter, Jessica E.;
- Syngal, Sapna;
- Acheson, Louise S.;
- Wiesner, Georgia L.;
- Peterson, Susan K.;
- Bergen, Kellene M.;
- Shuster, Elizabeth;
- Davis, James V.;
- Schneider, Jennifer L.;
- Kauffman, Tia L.;
- Gilmore, Marian J.;
- Reiss, Jacob A.;
- Rope, Alan F.;
- Cook, Jennifer E.;
- Goddard, Katrina A. B.
Publication type:
Article
Response to Happle a novel X linked phenotype caused by hypomorphic EBP mutation.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1772, doi. 10.1002/ajmg.a.34089
By:
- Rope, Alan F.;
- Carey, John C.
Publication type:
Article
The Occurrence of Biogenic Calcian Struvite, (Mg, Ca)NH4PO4.6H2O, as Intracellular Crystals in Paramecium.
Published in:
Journal of Eukaryotic Microbiology, 1997, v. 44, n. 4, p. 366, doi. 10.1111/j.1550-7408.1997.tb05679.x
By:
- GROVER, JOHN E.;
- ROPE, ALAN F.;
- KANESHIRO, EDNA S.
Publication type:
Article
Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)
Published in:
Otolaryngology-Head & Neck Surgery, 2004, v. 130, n. 4, p. 415, doi. 10.1016/j.otohns.2003.12.014
By:
- Miyamoto, R. Christopher;
- Cotton, Robin T.;
- Rope, Alan F.;
- Hopkin, Robert J.;
- Cohen, Aliza P.;
- Shott, Sally R.;
- Rutter, Michael J.
Publication type:
Article

Found: 21

Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.

Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.

Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.

Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study.

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

Generating a taxonomy for genetic conditions relevant to reproductive planning.

7q11.23 Duplication Syndrome: Physical Characteristics and Natural History.

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Neural tube defects and atypical deletion on 22q11.2.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Genetic Testing Uptake among Ovarian Cancer Survivors in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study.

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

An Examination of the Ethical and Legal Limits in Implementing "Traceback Testing" for Deceased Patients.

A case for expanding carrier testing to include actionable X‐linked disorders.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.

Response to Happle a novel X linked phenotype caused by hypomorphic EBP mutation.

The Occurrence of Biogenic Calcian Struvite, (Mg, Ca)NH<sub>4</sub>PO<sub>4</sub>.6H<sub>2</sub>O, as Intracellular Crystals in Paramecium.

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)