Observed frequency and challenges of variant reclassification in a hereditary cancer clinic
Macklin, Sarah, Durand, Nisha, Atwal, Paldeep, Hines, Stephanie
Published in Genetics in medicine (01.03.2018)
Published in Genetics in medicine (01.03.2018)
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Journal Article
Physician interpretation of variants of uncertain significance
Macklin, Sarah K., Jackson, Jessica L., Atwal, Paldeep S., Hines, Stephanie L.
Published in Familial cancer (01.01.2019)
Published in Familial cancer (01.01.2019)
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Journal Article
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma
Macklin- Mantia, Sarah K, Hines, Stephanie L, Chaichana, Kaisorn L, Donaldson, Angela M, Ko, Stephen L, Zhai, Qihui, Samadder, Niloy Jewel, Riegert-Johnson, Douglas L
Published in BMC medical genetics (17.08.2020)
Published in BMC medical genetics (17.08.2020)
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Journal Article
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification
Gupta, Aditi, Zimmermann, Michael T., Wang, Haitao, Broski, Stephen M., Sigafoos, Ashley N., Macklin, Sarah K., Urrutia, Raul A., Clark, Karl J., Atwal, Paldeep S., Pignolo, Robert J., Klee, Eric W.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer
Macklin, Sarah K, Kasi, Pashtoon M, Jackson, Jessica L, Hines, Stephanie L
Published in Frontiers in oncology (21.08.2018)
Published in Frontiers in oncology (21.08.2018)
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Journal Article
An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
Macklin-Mantia, Sarah K, Riegert-Johnson, Douglas L
Published in Hereditary cancer in clinical practice (30.07.2020)
Published in Hereditary cancer in clinical practice (30.07.2020)
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Journal Article
AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature
Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Published in Molecular genetics & genomic medicine (01.06.2023)
Published in Molecular genetics & genomic medicine (01.06.2023)
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Journal Article
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome
Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Published in Molecular genetics & genomic medicine (01.07.2022)
Published in Molecular genetics & genomic medicine (01.07.2022)
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Journal Article
Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record
Clift, Kristin, Macklin-Mantia, Sarah, Barnhorst, Margaret, Millares, Lindsey, King, Zacharay, Agarwal, Anjali, Presutti, Richard John
Published in Journal of primary care & community health (01.01.2022)
Published in Journal of primary care & community health (01.01.2022)
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Journal Article
Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy
Ahuja, Abhimanyu S., Selvam, Pavalan, Vadlamudi, Charitha, Chopra, Hayley, Richter, John E., Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Mohammaad, Ahmed N., Hines, Stephanie, Davila, Maria C., Atwal, Paldeep S., Caulfield, Thomas R.
Published in Ophthalmic genetics (01.11.2020)
Published in Ophthalmic genetics (01.11.2020)
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Journal Article
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction
Caulfield, Thomas R., Atwal, Paldeep S., Mohammad, Ahmed N., Samreen, Ayesha, Helmi, Haytham, Vadlamudi, Charitha, Bruno, Katelyn A., Macklin, Sarah K., Hines, Stephanie L.
Published in Case reports in medicine (2020)
Published in Case reports in medicine (2020)
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Journal Article
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
Atwal, Paldeep S., Caulfield, Thomas R., VanGerpen, Jay A., Mohammad, Ahmed N., Broderick, Daniel, Helmi, Haytham, Samreen, Ayesha, Macklin, Sarah K., Vadlamudi, Charitha, Richter, John E., Hines, Stephanie L.
Published in Case reports in genetics (25.01.2020)
Published in Case reports in genetics (25.01.2020)
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Journal Article
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
Haverfield, Eden V, Esplin, Edward D, Aguilar, Sienna J, Hatchell, Kathryn E, Ormond, Kelly E, Hanson-Kahn, Andrea, Atwal, Paldeep S, Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M, Tucker, Steven, Bleyl, Steven B, Hulick, Peter J, Gordon, Ora K, Velsher, Lea, Gu, Jessica Y. J, Weissman, Scott M, Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L
Published in BMC medicine (18.08.2021)
Published in BMC medicine (18.08.2021)
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Journal Article
Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1
Kaiwar, Charu, Macklin, Sarah K, Gass, Jennifer M, Jackson, Jessica, Klee, Eric W, Hines, Stephanie L, Stauffer, John A, Atwal, Paldeep S
Published in Hereditary cancer in clinical practice (21.07.2017)
Published in Hereditary cancer in clinical practice (21.07.2017)
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Journal Article
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
Haverfield, Eden V, Esplin, Edward D, Aguilar, Sienna J, Hatchell, Kathryn E, Ormond, Kelly E, Hanson-Kahn, Andrea, Atwal, Paldeep S, Macklin-Mantia, Sarah, Hines, Stephanie, Sak, Caron W.-M, Tucker, Steven, Bleyl, Steven B, Hulick, Peter J, Gordon, Ora K, Velsher, Lea, Gu, Jessica Y. J, Weissman, Scott M, Kruisselbrink, Teresa, Abel, Christopher, Kettles, Michele, Slavotinek, Anne, Mendelsohn, Bryce A, Green, Robert C, Aradhya, Swaroop, Nussbaum, Robert L
Published in BMC medicine (03.11.2021)
Published in BMC medicine (03.11.2021)
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Journal Article
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Morales-Rosado, Joel A., Schwab, Tanya L., Macklin-Mantia, Sarah K., Foley, A. Reghan, Pinto e Vairo, Filippo, Pehlivan, Davut, Donkervoort, Sandra, Rosenfeld, Jill A., Boyum, Grace E., Hu, Ying, Cong, Anh T.Q., Lotze, Timothy E., Mohila, Carrie A., Saade, Dimah, Bharucha-Goebel, Diana, Chao, Katherine R., Grunseich, Christopher, Bruels, Christine C., Littel, Hannah R., Estrella, Elicia A., Pais, Lynn, Kang, Peter B., Zimmermann, Michael T., Lupski, James R., Lee, Brendan, Schellenberg, Matthew J., Clark, Karl J., Wierenga, Klaas J., Bönnemann, Carsten G., Klee, Eric W.
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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Journal Article
Impact of integrated translational research on clinical exome sequencing
Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article