StephanieLynnHinesMD

PubMed

• 1 citations
  MRI phenotypes associated with breast cancer predisposing genetic variants, a multisite review.
  Santo Maimone, Laura K Harper, Sarah K Mantia, Pooja P Advani, Alexander P Hochwald, Zhuo Li, Stephanie L Hines, Bhavika Patel> ;European Journal of Radiology. 2023 May 1
• 1 citations
  Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
  Sarah K Macklin-Mantia, Kristin E Clift, Santo Maimone, David O Hodge, Douglas Riegert-Johnson, Stephanie L Hines> ;Journal of Genetic Counseling. 2023 Jun 1
• 10 citations
  Perception, Prevalence, and Prediction of Severe Infection and Post-acute Sequelae of COVID-19.
  Dacre R T Knight, Bala Munipalli, Ilana I Logvinov, Meghana G Halkar, Ghada Mitri, Abd Moain Abu Dabrh, Stephanie L Hines> ;The American Journal of the Medical Sciences. 2022 Apr 1
• 3 citations
  Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  Eden V Haverfield, Edward D Esplin, Sienna J Aguilar, Kathryn E Hatchell, Kelly E Ormond, Andrea Hanson-Kahn, Paldeep S Atwal, Sarah Macklin-Mantia, Stephanie Hines, C...> ;BMC Medicine. 2021 Nov 3
• 18 citations
  Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
  Eden V Haverfield, Edward D Esplin, Sienna J Aguilar, Kathryn E Hatchell, Kelly E Ormond, Andrea Hanson-Kahn, Paldeep S Atwal, Sarah Macklin-Mantia, Stephanie Hines, C...> ;BMC Medicine. 2021 Aug 18
• 2 citations
  Clinical description & molecular modeling of novel MAX pathogenic variant causing pheochromocytoma in family, supports paternal parent-of-origin effect
  John E. Richter, Stephanie L. Hines, Pavalan Selvam, Herjot Atwal, Houssam Farres, Thomas R. Caulfield, Paldeep S. Atwal> ;Cancer Genetics. 2021 Jan 19
• 14 citations
  Symptoms and Clinical Outcomes of Coronavirus Disease 2019 in the Outpatient Setting.
  Dacre Knight, Katheryne Downes, Bala Munipalli, Meghana Halkar, Ilana I. Logvinov, Leigh L. Speicher, Stephanie L. Hines> ;SN Comprehensive Clinical Medicine. 2021 Jan 14
• 1 citations
  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 atro...
  Pavalan Selvam, Charitha Vadlamudi, Hayley K. Chopra, John E. Richter, Sarah Macklin, Ayesha Samreen, Haytham Helmi, Ahmed N. Mohammaad, Stephanie L. Hines, Maria C. D...> ;Ophthalmic Genetics. 2020 Sep 17
• 5 citations
  Intensive Multicomponent Fibromyalgia Treatment: A Translational Study to Evaluate Effectiveness in Routine Care Delivery.
  Barbara K. Bruce, Madeleine E. Allman, Fernando A. Rivera, Benjamin Wang, Florentina Berianu, Ronald R. Butendieck, Kenneth T. Calamia, Stephanie L. Hines, Teresa A. R...> ;Journal of Clinical Rheumatology. 2021 Dec 1
• 10 citations
  Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
  Sarah K. Macklin-Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L Ko, Qihui Zhai, Niloy Jewel Samadder, Douglas L. Riegert-Johnson> ;BMC Medical Genetics. 2020 Aug 17
• 3 citations
  Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer
  Sarah K. Macklin-Mantia, Stephanie L. Hines, Pashtoon Murtaza Kasi> ;Hereditary Cancer in Clinical Practice. 2020 Aug 10
• 2 citations
  Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
  Sarah Macklin, Katelyn A. Bruno, Charitha Vadlamudi, Haytham Helmi, Ayesha Samreen, Ahmed N. Mohammad, Stepahnie Hines, Paldeep S. Atwal, Thomas R. Caulfield> ;Case Reports in Medicine. 2020 Jun 19
• 39 citations
  Patients’ views on variants of uncertain significance across indications
  Kristin E. Clift, Sarah Macklin, Colin M.E. Halverson, Jennifer B. McCormick, Abd Moain Abu Dabrh, Stephanie L. Hines> ;Journal of Community Genetics. 2020 Apr 1
• 2 citations
  Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
  John E. Richter, Charitha Vadlamudi, Sarah Macklin, Ayesha Samreen, Haytham Helmi, Daniel F. Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldee...> ;Case Reports in Genetics. 2020 Jan 25
• 4 citations
  Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences.
  Kristin E. Clift, Sarah Macklin, Stephanie L. Hines> ;Hereditary Cancer in Clinical Practice. 2019 Dec 16
• 3 citations
  Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations
  John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas J. Wierenga, Stephanie L. Hines, Paldeep S. Atwal, Thomas R. Caulfield> ;Medicina. 2019 May 15
• 8 citations
  Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
  Stephanie L. Hines, John E. Richter, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal, Thomas R. Caulfield> ;Molecular Genetics & Genomic Medicine. 2019 Jan 28
• 8 citations
  Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional–structural assessments via protein infor...
  Stephanie L. Hines, Ahmed N. Mohammad, Jessica Jackson, Sarah Macklin, Thomas R. Caulfield> ;Molecular Omics. 2019 Feb 11
• 42 citations
  Physician interpretation of variants of uncertain significance.
  Sarah Macklin, Jessica Jackson, Paldeep S. Atwal, Stephanie L. Hines> ;Familial Cancer. 2019 Jan 1
• 3 citations
  Common benign breast concerns for the primary care physician
  Christine L. Klassen, Stephanie L. Hines, Karthik Ghosh> ;Cleveland Clinic Journal of Medicine. 2019 Jan 1
• 1 citations
  Addressing the Needs of International Patients at End of Life in a Tertiary Care Medical Center.
  Kevin J. Whitford, Stephanie L. Hines, Mohamad Bydon, David L. Hayes> ;Mayo Clinic Proceedings. 2018 Dec 1
• Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
  Stephanie L. Hines, Anjali Agarwal, Mohamedanwar Ghandour, Nabeel Aslam, Ahmed N. Mohammad, Paldeep S. Atwal> ;Human Genome Variation. 2018 Aug 28
• 3 citations
  Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer.
  Sarah Macklin, Pashtoon Murtaza Kasi, Jessica Jackson, Stephanie L. Hines> ;Frontiers in Oncology. 2018 Aug 21
• 5 citations
  Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families
  Stephanie L. Hines, Anjali Agarwal, Mohamedanwar Ghandour, Nabeel Aslam, Ahmed N. Mohammad, Paldeep S. Atwal> ;Human Genome Variation. 2018 Jul 10
• 64 citations
  Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.
  Sarah Macklin, Nisha Durand, Paldeep S. Atwal, Stephanie L. Hines> ;Genetics in Medicine. 2018 Mar 1
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