Publications

• Consideration of disease penetrance in the selection of secondary findings gene-disease pairs

  Genetics in Medicine Jul 2024
  1. Adam S. Gordon
  2. Kristy Lee
  3. Noura S. Abul-Husn
  4. Laura M. Amendola
  5. Kyle Brothers
  6. Wendy K. Chung
  7. Michael H. Gollob
  8. Steven M. Harrison
  9. Ray E. Hershberger
  10. C. Sue Richards
  11. Douglas R. Stewart
  12. Christa Lese Martin
  13. David T. Miller

• Novel recruitment approaches and operational results for a statewide population Cohort for cancer research

  Journal of Clinical and Translational Science 2024
  1. Zhenzhen Zhang
  2. Autumn Shafer
  3. Katie Johnson-Camacho
  4. Andrew Adey
  5. Pavana Anur
  6. Kim A. Brown
  7. Casey Conrad
  8. Rachel Crist
  9. Paige E. Farris
  10. Christina A. Harrington
  11. Lisa K. Marriott
  12. Asia Mitchell
  13. Brian O'Roak
  14. Vanessa Serrato
  15. C. Sue Richards
  16. Paul T. Spellman
  17. Jackilen Shannon

• ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing

  Genetics in Medicine Aug 2023
  1. David T. Miller
  2. Kristy Lee
  3. Noura S. Abul-Husn
  4. Laura M. Amendola
  5. Kyle Brothers
  6. Wendy K. Chung
  7. Michael H. Gollob
  8. Adam S. Gordon
  9. Steven M. Harrison
  10. Ray E. Hershberger
  11. Teri E. Klein
  12. C. Sue Richards
  13. Douglas R. Stewart
  14. Christa Lese Martin

• Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon

  American Journal of Human Genetics Aug 3, 2023
  1. Timothy D. O'Brien
  2. Amiee B. Potter
  3. Catherine C. Driscoll
  4. Gregory Goh
  5. John H. Letaw
  6. Sarah McCabe
  7. Jane Thanner
  8. Arpita Kulkarni
  9. Rossana Wong
  10. Samuel Medica
  11. Tiana Week
  12. Jacob Buitrago
  13. Aaron Larson
  14. Katie Johnson Camacho
  15. Kim Brown
  16. Rachel Crist
  17. Casey Conrad
  18. Sara Evans-Dutson
  19. Ryan Lutz
  20. Asia Mitchell
  21. Pavana Anur
  22. Vanessa Serrato
  23. Autumn Shafer
  24. Lisa K. Marriott
  25. K. J. Hamman
  26. Amelia Mulford
  27. Wojciech Wiszniewski
  28. Jone E. Sampson
  29. Andrew Adey
  30. Brian J. O'Roak
  31. Christina A. Harrington
  32. Jackilen Shannon
  33. Paul T. Spellman
  34. C. Sue Richards

• Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

  Genetics in Medicine Jan 2022
  1. Timothy D. O'Brien
  2. N. Eleanor Campbell
  3. Amiee B. Potter
  4. John H. Letaw
  5. Arpita Kulkarni
  6. C. Sue Richards

• ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing

  Genetics in Medicine 2021
  1. David T. Miller
  2. Kristy Lee
  3. Wendy K. Chung
  4. Adam S. Gordon
  5. Gail E. Herman
  6. Teri E. Klein
  7. Douglas R. Stewart
  8. Laura M. Amendola
  9. Kathy Adelman
  10. Sherri J. Bale
  11. Michael H. Gollob
  12. Steven M. Harrison
  13. Ray E. Hershberger
  14. Kent McKelvey
  15. C. Sue Richards
  16. Christopher N. Vlangos
  17. Michael S. Watson
  18. Christa Lese Martin

• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update

  Genetics in Medicine 2021
  1. David T. Miller
  2. Kristy Lee
  3. Adam S. Gordon
  4. Laura M. Amendola
  5. Kathy Adelman
  6. Sherri J. Bale
  7. Wendy K. Chung
  8. Michael H. Gollob
  9. Steven M. Harrison
  10. Gail E. Herman
  11. Ray E. Hershberger
  12. Teri E. Klein
  13. Kent McKelvey
  14. C. Sue Richards
  15. Christopher N. Vlangos
  16. Douglas R. Stewart
  17. Michael S. Watson
  18. Christa Lese Martin

• CFTR variant testing

  Genetics in Medicine Jan 1, 2020
  1. Joshua L. Deignan
  2. Caroline Astbury
  3. Garry R. Cutting
  4. Daniela del Gaudio
  5. Anthony R. Gregg
  6. Wayne W. Grody
  7. Kristin G. Monaghan
  8. Sue Richards

• Secondary findings from clinical genomic sequencing

  Genetics in Medicine Jan 1, 2018
  1. M. Ragan Hart
  2. Barbara B. Biesecker
  3. Carrie L. Blout
  4. Kurt D. Christensen
  5. Laura M. Amendola
  6. Katie L. Bergstrom
  7. Sawona Biswas
  8. Kevin M. Bowling
  9. Kyle B. Brothers
  10. Laura K. Conlin
  11. Greg M. Cooper
  12. Matthew C. Dulik
  13. Kelly M. East
  14. Jessica N. Everett
  15. Candice R. Finnila
  16. Arezou A. Ghazani
  17. Marian J. Gilmore
  18. Katrina A.B. Goddard
  19. Gail P. Jarvik
  20. Jennifer J. Johnston
  21. Tia L. Kauffman
  22. Whitley V. Kelley
  23. Joel B. Krier
  24. Katie L. Lewis
  25. Amy L. McGuire
  26. Carmit McMullen
  27. Jeffrey Ou
  28. Sharon E. Plon
  29. Heidi L. Rehm
  30. C. Sue Richards
  31. Edward J. Romasko
  32. Ane Miren Sagardia
  33. Nancy B. Spinner
  34. Michelle L. Thompson
  35. Erin Turbitt
  36. Jason L. Vassy
  37. Benjamin S. Wilfond
  38. David L. Veenstra
  39. Jonathan S. Berg
  40. Robert C. Green
  41. Leslie G. Biesecker
  42. Lucia A. Hindorff

• A case for expanding carrier testing to include actionable X-linked disorders

  Clinical Case Reports Jan 1, 2018
  1. Alan F. Rope
  2. Tia L. Kauffman
  3. Pat Himes
  4. Laura M. Amendola
  5. Sumit Punj
  6. Yassmine Akkari
  7. Amiee Potter
  8. James V. Davis
  9. Jennifer L. Schneider
  10. Jacob A. Reiss
  11. Mari J. Gilmore
  12. Carmit K. McMullen
  13. Deborah A. Nickerson
  14. C. Sue Richards
  15. Gail P. Jarvik
  16. Benjamin S. Wilfond
  17. Katrina A.B. Goddard

• Approaches to carrier testing and results disclosure in translational genomics research

  Molecular Genetics and Genomic Medicine Jan 1, 2018
  1. Kathryn M. Porter
  2. Tia L. Kauffman
  3. Barbara A. Koenig
  4. Katie L. Lewis
  5. Heidi L. Rehm
  6. Carolyn Sue Richards
  7. Natasha T. Strande
  8. Holly K. Tabor
  9. Susan M. Wolf
  10. Yaping Yang
  11. Laura M. Amendola
  12. Danielle R. Azzariti
  13. Jonathan S. Berg
  14. Katie Bergstrom
  15. Leslie G. Biesecker
  16. Sawona Biswas
  17. Kevin M. Bowling
  18. Wendy K. Chung
  19. Ellen W. Clayton
  20. Laura K. Conlin
  21. Gregory M. Cooper
  22. Matthew C. Dulik
  23. Levi A. Garraway
  24. Arezou A. Ghazani
  25. Robert C. Green
  26. Susan M. Hiatt
  27. Seema M. Jamal
  28. Gail P. Jarvik
  29. Katrina A.B. Goddard
  30. Benjamin S. Wilfond

• Preconception Carrier Screening by Genome Sequencing

  American Journal of Human Genetics Jan 1, 2018
  1. Sumit Punj
  2. Yassmine Akkari
  3. Jennifer Huang
  4. Fei Yang
  5. Allison Creason
  6. Christine Pak
  7. Amiee Potter
  8. Michael O. Dorschner
  9. Deborah A. Nickerson
  10. Peggy D. Robertson
  11. Gail P. Jarvik
  12. Laura M. Amendola
  13. Jennifer Schleit
  14. Dana Kostiner Simpson
  15. Alan F. Rope
  16. Jacob Reiss
  17. Tia Kauffman
  18. Marian J. Gilmore
  19. Patricia Himes
  20. Benjamin Wilfond
  21. Katrina A.B. Goddard
  22. C. Sue Richards

• Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing

  Genetics in Medicine Feb 1, 2018
  1. Lynn W. Bush
  2. Anita E. Beck
  3. Leslie G. Biesecker
  4. James P. Evans
  5. Ada Hamosh
  6. Ingrid A. Holm
  7. Christa L. Martin
  8. C. Sue Richards
  9. Heidi L. Rehm

• Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update

  Genetics in Medicine Jan 1, 2018
  1. Shulin Zhang
  2. Annette K. Taylor
  3. Xuan Huang
  4. Biao Luo
  5. Elaine B. Spector
  6. Ping Fang
  7. C. Sue Richards

• A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

  Genetics in Medicine May 1, 2017
  1. Julianne M. O'Daniel
  2. Heather M. McLaughlin
  3. Laura M. Amendola
  4. Sherri J. Bale
  5. Jonathan S. Berg
  6. David Bick
  7. Kevin M. Bowling
  8. Elizabeth C. Chao
  9. Wendy K. Chung
  10. Laura K. Conlin
  11. Gregory M. Cooper
  12. Soma Das
  13. Joshua L. Deignan
  14. Michael O. Dorschner
  15. James P. Evans
  16. Arezou A. Ghazani
  17. Katrina A. Goddard
  18. Michele Gornick
  19. Kelly D. Farwell Hagman
  20. Tina Hambuch
  21. Madhuri Hegde
  22. Lucia A. Hindorff
  23. Ingrid A. Holm
  24. Gail P. Jarvik
  25. Amy Knight Johnson
  26. Lindsey Mighion
  27. Massimo Morra
  28. Sharon E. Plon
  29. Sumit Punj
  30. C. Sue Richards
  31. Avni Santani
  32. Brian H. Shirts
  33. Nancy B. Spinner
  34. Sha Tang
  35. Karen E. Weck
  36. Susan M. Wolf
  37. Yaping Yang
  38. Heidi L. Rehm

• Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

  Contemporary Clinical Trials Feb 1, 2017
  1. Tia L. Kauffman
  2. Michael C. Leo
  3. Frances L. Lynch
  4. Jacob A. Reiss
  5. Carmit McMullen
  6. Katrina A.B. Goddard
  7. Benjamin S. Wilfond
  8. Gail P. Jarvik
  9. Gail P. Jarvik
  10. Deborah Nickerson
  11. C. Sue Richards
  12. Michael O. Dorschner

• Genome sequencing and carrier testing

  Genetics in Medicine Jul 1, 2017
  1. Patricia Himes
  2. Tia L. Kauffman
  3. Kristin R. Muessig
  4. Laura M. Amendola
  5. Jonathan S. Berg
  6. Michael O. Dorschner
  7. Marian Gilmore
  8. Deborah A. Nickerson
  9. Jacob A. Reiss
  10. C. Sue Richards
  11. Alan F. Rope
  12. Dana K. Simpson
  13. Benjamin S. Wilfond
  14. Gail P. Jarvik
  15. Katrina A.B. Goddard

• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0)

  Genetics in Medicine Feb 1, 2017
  1. Sarah S. Kalia
  2. Kathy Adelman
  3. Sherri J. Bale
  4. Wendy K. Chung
  5. Christine Eng
  6. James P. Evans
  7. Gail E. Herman
  8. Sophia B. Hufnagel
  9. Teri E. Klein
  10. Bruce R. Korf
  11. Kent D. McKelvey
  12. Kelly E. Ormond
  13. C. Sue Richards
  14. Christopher N. Vlangos
  15. Michael Watson
  16. Christa L. Martin
  17. David T. Miller

• Clinical Sequencing Exploratory Research Consortium

  American Journal of Human Genetics Jun 2, 2016
  1. Robert C. Green
  2. Katrina A.B. Goddard
  3. Gail P. Jarvik
  4. Laura M. Amendola
  5. Paul S. Appelbaum
  6. Jonathan S. Berg
  7. Barbara A. Bernhardt
  8. Leslie G. Biesecker
  9. Sawona Biswas
  10. Carrie L. Blout
  11. Kevin M. Bowling
  12. Kyle B. Brothers
  13. Wylie Burke
  14. Charlisse F. Caga-Anan
  15. Arul M. Chinnaiyan
  16. Wendy K. Chung
  17. Ellen W. Clayton
  18. Gregory M. Cooper
  19. Kelly East
  20. James P. Evans
  21. Stephanie M. Fullerton
  22. Levi A. Garraway
  23. Jeremy R. Garrett
  24. Stacy W. Gray
  25. Gail E. Henderson
  26. Lucia A. Hindorff
  27. Ingrid A. Holm
  28. Michelle Huckaby Lewis
  29. Carolyn M. Hutter
  30. Pasi A. Janne
  31. Steven Joffe
  32. David Kaufman
  33. Bartha M. Knoppers
  34. Barbara A. Koenig
  35. Ian D. Krantz
  36. Teri A. Manolio
  37. Laurence McCullough
  38. Jean McEwen
  39. Amy McGuire
  40. Donna Muzny
  41. Richard M. Myers
  42. Deborah A. Nickerson
  43. Jeffrey Ou
  44. Donald W. Parsons
  45. Gloria M. Petersen
  46. Sharon E. Plon
  47. Heidi L. Rehm
  48. J. Scott Roberts
  49. Dan Robinson
  50. Joseph S. Salama
  51. Sarah Scollon
  52. Richard R. Sharp
  53. Brian H. Shirts
  54. Nancy B. Spinner
  55. Holly K. Tabor
  56. Peter Tarczy-Hornoch
  57. David L. Veenstra
  58. Nikhil Wagle
  59. Karen Weck
  60. Benjamin S. Wilfond
  61. Kirk Wilhelmsen
  62. Susan M. Wolf
  63. Julia Wynn
  64. Joon Ho Yu
  65. Michelle Amaral
  66. Samuel J. Aronson
  67. Shubhangi Arora
  68. Danielle R. Azzariti
  69. Greg S. Barsh
  70. E. M. Bebin
  71. Barbara B. Biesecker
  72. Brian L. Brown
  73. Amber A. Burt
  74. Peter H. Byers
  75. Muge G. Calikoglu
  76. Sara J. Carlson
  77. Nizar Chahin
  78. Kurt D. Christensen
  79. Allison L. Cirino
  80. Laura K. Conlin
  81. Greg M. Cooper
  82. David R. Crosslin
  83. James V. Davis
  84. Kelly Davis
  85. Matthew A. Deardorff
  86. Batsal Devkota
  87. Raymond De Vries
  88. Pamela Diamond
  89. Michael O. Dorschner
  90. Noreen P. Dugan
  91. Dmitry Dukhovny
  92. Matthew C. Dulik
  93. Kelly M. East
  94. Edgar A. Rivera-Munoz
  95. Barbara Evans
  96. Jessica Everett
  97. Nicole Exe
  98. Zheng Fan
  99. Lindsay Z. Feuerman
  100. Kelly Filipski
  101. Candice R. Finnila
  102. Kristen Fishler
  103. Bob Ghrundmeier
  104. Karen Giles
  105. Marian J. Gilmore
  106. Zahra S. Girnary
  107. Steven Gonsalves
  108. Adam S. Gordon
  109. Michele C. Gornick
  110. William M. Grady
  111. David E. Gray
  112. Robert S. Greenwood
  113. Amanda M. Gutierrez
  114. Paul Han
  115. Ragan Hart
  116. Patrick Heagerty
  117. Naomi Hensman
  118. Susan M. Hiatt
  119. Patricia Himes
  120. Fuki M. Hisama
  121. Carolyn Y. Ho
  122. Lily B. Hoffman-Andrews
  123. Celine Hong
  124. Martha J. Horike-Pyne
  125. Sara Hull
  126. Seema Jamal
  127. Brian C. Jensen
  128. Jennifer Johnston
  129. Dean Karavite
  130. Tia L. Kauffman
  131. Dave Kaufman
  132. Whitley Kelley
  133. Jerry H. Kim
  134. Christine Kirby
  135. William Klein
  136. Sek Won Kong
  137. Joel B. Krier
  138. Neil E. Lamb
  139. Michele P. Lambert
  140. Lan Q. Le
  141. Matthew S. Lebo
  142. Alexander Lee
  143. Kaitlyn B. Lee
  144. Niall Lennon
  145. Michael C. Leo
  146. Kathleen A. Leppig
  147. Katie Lewis
  148. Neal I. Lindeman
  149. Nicole Lockhart
  150. Bob Lonigro
  151. Edward J. Lose
  152. Philip J. Lupo
  153. Laura Lyman Rodriguez
  154. Frances Lynch
  155. Kalotina Machini
  156. Calum Macrae
  157. Daniel S. Marchuk
  158. Josue N. Martinez
  159. Aaron Masino
  160. Heather M. McLaughlin
  161. Carmit McMullen
  162. Piotr A. Mieczkowski
  163. Jeff Miller
  164. Victoria A. Miller
  165. Rajen Mody
  166. Sean D. Mooney
  167. Elizabeth G. Moore
  168. Elissa Morris
  169. Michael Murray
  170. David Ng
  171. Nelly M. Oliver
  172. Will Parsons
  173. Donald L. Patrick
  174. Jeffrey Pennington
  175. Denise L. Perry
  176. Katie Porter
  177. Bradford C. Powell
  178. Sumit Punj
  179. Carmen Radecki Breitkopf
  180. Robin A. Raesz-Martinez
  181. Wendy H. Raskind
  182. Dean A. Reigar
  183. Jacob A. Reiss
  184. Carla A. Rich
  185. Carolyn Sue Richards
  186. Christine Rini
  187. Scott Roberts
  188. Peggy D. Robertson
  189. Jill O. Robinson
  190. Marguerite E. Robinson
  191. Myra I. Roche
  192. Edward J. Romasko
  193. Elisabeth A. Rosenthal
  194. Maria I. Scarano
  195. Jennifer Schneider
  196. Christine E. Seidman
  197. Bryce A. Seifert
  198. Lynette M. Sholl
  199. Javed Siddiqui
  200. Elian Silverman
  201. Shirley Simmons
  202. Janae V. Simons
  203. Debra Skinner
  204. Elena Stoffel
  205. Natasha T. Strande
  206. Shamil Sunyaev
  207. Virginia P. Sybert
  208. Jennifer Taber
  209. Deanne M. Taylor
  210. Christine R. Tilley
  211. Ashley Tomlinson
  212. Susan Trinidad
  213. Ellen Tsai
  214. Eliezer M. Van Allen
  215. Jason L. Vassy
  216. Pankaj Vats
  217. Victoria L. Vetter
  218. Raymond D. Vries
  219. Sarah A. Walser
  220. Rebecca C. Walsh
  221. Allison Werner-Lin
  222. Jana Whittle
  223. Kirk C. Wilhelmsen
  224. Yaping Yang
  225. Carol Young
  226. Brian J. Zikmund-Fisher

• Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

  Genetics in Medicine Sep 1, 2016
  1. Bradford D. Gessner
  2. Thalia Wood
  3. Monique A. Johnson
  4. Carolyn Sue Richards
  5. David M. Koeller