One is the loneliest number: genotypic matchmaking using the electronic health record

Undiagnosed Diseases Network

doi:10.1038/s41436-021-01179-w

One is the loneliest number: genotypic matchmaking using the electronic health record

Undiagnosed Diseases Network

Research output: Contribution to journal › Comment/debate

Original language	English
Pages (from-to)	1830-1832
Number of pages	3
Journal	Genetics in Medicine
Volume	23
Issue number	10
DOIs	https://doi.org/10.1038/s41436-021-01179-w
State	Published - Oct 2021

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10.1038/s41436-021-01179-w

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@article{b6f7983fbc464a4c8d983e363ba0d26c,

title = "One is the loneliest number: genotypic matchmaking using the electronic health record",

author = "{Undiagnosed Diseases Network} and Elly Brokamp and Koziura, {Mary E.} and Phillips, {John A.} and Tang, {Leigh Anne} and Cogan, {Joy D.} and Rives, {Lynette C.} and Robertson, {Amy K.} and Laura Duncan and Anna Bican and Peterson, {Josh F.} and Newman, {John H.} and Rizwan Hamid and Lisa Bastarache and Alejandro, {Mercedes E.} and Azamian, {Mahshid S.} and Bacino, {Carlos A.} and Ashok Balasubramanyam and Bostwick, {Bret L.} and Burrage, {Lindsay C.} and Chao, {Hsiao Tuan} and Clark, {Gary D.} and Craigen, {William J.} and Dhar, {Shweta U.} and Emrick, {Lisa T.} and Goldman, {Alica M.} and Hanchard, {Neil A.} and Fariha Jamal and Lefkothea Karaviti and Lalani, {Seema R.} and Lee, {Brendan H.} and Lewis, {Richard A.} and Ronit Marom and Moretti, {Paolo M.} and Murdock, {David R.} and Nicholas, {Sarah K.} and Orengo, {James P.} and Posey, {Jennifer E.} and Lorraine Potocki and Rosenfeld, {Jill A.} and Samson, {Susan L.} and Scott, {Daryl A.} and Tran, {Alyssa A.} and Vogel, {Tiphanie P.} and Bellen, {Hugo J.} and Wangler, {Michael F.} and Shinya Yamamoto and Eng, {Christine M.} and Pengfei Liu and Ward, {Patricia A.} and Goldstein, {David B.} and Nicholas Stong and Heidi Cope and Jiang, {Yong hui} and Allyn McConkie-Rosell and Kelly Schoch and Vandana Shashi and Spillmann, {Rebecca C.} and Sullivan, {Jennifer A.} and Tan, {Queenie K.G.} and Walley, {Nicole M.} and Pankaj Agrawal and Beggs, {Alan H.} and Berry, {Gerard T.} and Briere, {Lauren C.} and Cooper, {Cynthia M.} and Cobban, {Laurel A.} and Fieg, {Elizabeth L.} and Frances High and Holm, {Ingrid A.} and Susan Korrick and Krier, {Joel B.} and Lincoln, {Sharyn A.} and Joseph Loscalzo and Maas, {Richard L.} and MacRae, {Calum A.} and Pallais, {J. Carl} and Rodan, {Lance H.} and Silverman, {Edwin K.} and Stoler, {Joan M.} and Sweetser, {David A.} and Melissa Walker and Walsh, {Chris A.} and Cecilia Esteves and Kelley, {Emily G.} and Kohane, {Isaac S.} and Kimberly LeBlanc and McCray, {Alexa T.} and Matthew Might and Bick, {David P.} and Birch, {Camille L.} and Boone, {Braden E.} and Brown, {Donna M.} and Dorset, {Daniel C.} and Jones, {Angela L.} and Jozef Lazar and Levy, {Shawn E.} and Thomas May and Newberry, {J. Scott} and Worthey, {Elizabeth A.} and Lanza, {Ian R.} and Devin Oglesbee and Eva Morava-Kozicz and Lanpher, {Brendan C.} and Surendra Dasari and Guney Bademci and Deborah Barbouth and Stephanie Bivona and Olveen Carrasquillo and Chang, {Ta Chen Peter} and Irman Forghani and Alana Grajewski and Rosario Isasi and Byron Lam and Roy Levitt and Liu, {Xue Zhong} and Jacob McCauley and Ralph Sacco and Mario Saporta and Judy Schaechter and Mustafa Tekin and Fred Telischi and Willa Thorson and Stephan Zuchner and Batzli, {Gabriel F.} and Colley, {Heather A.} and Dayal, {Jyoti G.} and Eckstein, {David J.} and Krasnewich, {Donna M.} and Mamounas, {Laura A.} and Manolio, {Teri A.} and Mulvihill, {John J.} and Rowley, {Robb K.} and Sillari, {Catherine H.} and Tamburro, {Cecelia P.} and Urv, {Tiina K.} and Wise, {Anastasia L.} and Acosta, {Maria T.} and Carsten Bonnenmann and Burke, {Elizabeth A.} and Precilla D{\textquoteright}Souza and Mariska Davids and Draper, {David D.} and Tyra Estwick and Carlos Ferreira and Godfrey, {Rena A.} and Groden, {Catherine A.} and Johnston, {Jean M.} and Lau, {C. Christopher} and Macnamara, {Ellen F.} and Maduro, {Valerie V.} and Markello, {Thomas C.} and Marie Morimoto and Avi Nath and Donna Novacic and Pusey, {Barbara N.} and Prashant Sharma and Camilo Toro and Wahl, {Colleen E.} and Guoyun Yu and Gropman, {Andrea L.} and Eva Baker and Adams, {David R.} and Gahl, {William A.} and Malicdan, {May Christine V.} and Tifft, {Cynthia J.} and Wolfe, {Lynne A.} and John Yang and Matthew Brush and Gourdine, {Jean Philippe F.} and Melissa Haendel and Koeller, {David M.} and Kyle, {Jennifer E.} and Metz, {Thomas O.} and Waters, {Katrina M.} and Webb-Robertson, {Bobbie Jo M.} and Ashley, {Euan A.} and Bernstein, {Jonathan A.} and Devon Bonner and Coakley, {Terra R.} and Liliana Fernandez and Fisher, {Paul G.} and Jason Hom and Yong Huang and Kohler, {Jennefer N.} and Majcherska, {Marta M.} and Shruti Marwaha and McCormack, {Colleen E.} and Reuter, {Chloe M.} and Sampson, {Jacinda B.} and Smith, {Kevin S.} and Wheeler, {Matthew T.} and Zastrow, {Diane B.} and Chunli Zhao and Cole, {F. Sessions} and Jennifer Wambach and Dustin Baldridge and Timothy Schedl and Lilianna Solnica-Krezel and Stephen Pak and Jimann Shin",

note = "Funding Information: This research was supported by the National Institutes of Health (NIH) Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.",

year = "2021",

month = oct,

doi = "10.1038/s41436-021-01179-w",

language = "English",

volume = "23",

pages = "1830--1832",

journal = "Genetics in Medicine",

issn = "1098-3600",

number = "10",

}

TY - JOUR

T1 - One is the loneliest number

T2 - genotypic matchmaking using the electronic health record

AU - Undiagnosed Diseases Network

AU - Brokamp, Elly

AU - Koziura, Mary E.

AU - Phillips, John A.

AU - Tang, Leigh Anne

AU - Cogan, Joy D.

AU - Rives, Lynette C.

AU - Robertson, Amy K.

AU - Duncan, Laura

AU - Bican, Anna

AU - Peterson, Josh F.

AU - Newman, John H.

AU - Hamid, Rizwan

AU - Bastarache, Lisa

AU - Alejandro, Mercedes E.

AU - Azamian, Mahshid S.

AU - Bacino, Carlos A.

AU - Balasubramanyam, Ashok

AU - Bostwick, Bret L.

AU - Burrage, Lindsay C.

AU - Chao, Hsiao Tuan

AU - Clark, Gary D.

AU - Craigen, William J.

AU - Dhar, Shweta U.

AU - Emrick, Lisa T.

AU - Goldman, Alica M.

AU - Hanchard, Neil A.

AU - Jamal, Fariha

AU - Karaviti, Lefkothea

AU - Lalani, Seema R.

AU - Lee, Brendan H.

AU - Lewis, Richard A.

AU - Marom, Ronit

AU - Moretti, Paolo M.

AU - Murdock, David R.

AU - Nicholas, Sarah K.

AU - Orengo, James P.

AU - Posey, Jennifer E.

AU - Potocki, Lorraine

AU - Rosenfeld, Jill A.

AU - Samson, Susan L.

AU - Scott, Daryl A.

AU - Tran, Alyssa A.

AU - Vogel, Tiphanie P.

AU - Bellen, Hugo J.

AU - Wangler, Michael F.

AU - Yamamoto, Shinya

AU - Eng, Christine M.

AU - Liu, Pengfei

AU - Ward, Patricia A.

AU - Goldstein, David B.

AU - Stong, Nicholas

AU - Cope, Heidi

AU - Jiang, Yong hui

AU - McConkie-Rosell, Allyn

AU - Schoch, Kelly

AU - Shashi, Vandana

AU - Spillmann, Rebecca C.

AU - Sullivan, Jennifer A.

AU - Tan, Queenie K.G.

AU - Walley, Nicole M.

AU - Agrawal, Pankaj

AU - Beggs, Alan H.

AU - Berry, Gerard T.

AU - Briere, Lauren C.

AU - Cooper, Cynthia M.

AU - Cobban, Laurel A.

AU - Fieg, Elizabeth L.

AU - High, Frances

AU - Holm, Ingrid A.

AU - Korrick, Susan

AU - Krier, Joel B.

AU - Lincoln, Sharyn A.

AU - Loscalzo, Joseph

AU - Maas, Richard L.

AU - MacRae, Calum A.

AU - Pallais, J. Carl

AU - Rodan, Lance H.

AU - Silverman, Edwin K.

AU - Stoler, Joan M.

AU - Sweetser, David A.

AU - Walker, Melissa

AU - Walsh, Chris A.

AU - Esteves, Cecilia

AU - Kelley, Emily G.

AU - Kohane, Isaac S.

AU - LeBlanc, Kimberly

AU - McCray, Alexa T.

AU - Might, Matthew

AU - Bick, David P.

AU - Birch, Camille L.

AU - Boone, Braden E.

AU - Brown, Donna M.

AU - Dorset, Daniel C.

AU - Jones, Angela L.

AU - Lazar, Jozef

AU - Levy, Shawn E.

AU - May, Thomas

AU - Newberry, J. Scott

AU - Worthey, Elizabeth A.

AU - Lanza, Ian R.

AU - Oglesbee, Devin

AU - Morava-Kozicz, Eva

AU - Lanpher, Brendan C.

AU - Dasari, Surendra

AU - Bademci, Guney

AU - Barbouth, Deborah

AU - Bivona, Stephanie

AU - Carrasquillo, Olveen

AU - Chang, Ta Chen Peter

AU - Forghani, Irman

AU - Grajewski, Alana

AU - Isasi, Rosario

AU - Lam, Byron

AU - Levitt, Roy

AU - Liu, Xue Zhong

AU - McCauley, Jacob

AU - Sacco, Ralph

AU - Saporta, Mario

AU - Schaechter, Judy

AU - Tekin, Mustafa

AU - Telischi, Fred

AU - Thorson, Willa

AU - Zuchner, Stephan

AU - Batzli, Gabriel F.

AU - Colley, Heather A.

AU - Dayal, Jyoti G.

AU - Eckstein, David J.

AU - Krasnewich, Donna M.

AU - Mamounas, Laura A.

AU - Manolio, Teri A.

AU - Mulvihill, John J.

AU - Rowley, Robb K.

AU - Sillari, Catherine H.

AU - Tamburro, Cecelia P.

AU - Urv, Tiina K.

AU - Wise, Anastasia L.

AU - Acosta, Maria T.

AU - Bonnenmann, Carsten

AU - Burke, Elizabeth A.

AU - D’Souza, Precilla

AU - Davids, Mariska

AU - Draper, David D.

AU - Estwick, Tyra

AU - Ferreira, Carlos

AU - Godfrey, Rena A.

AU - Groden, Catherine A.

AU - Johnston, Jean M.

AU - Lau, C. Christopher

AU - Macnamara, Ellen F.

AU - Maduro, Valerie V.

AU - Markello, Thomas C.

AU - Morimoto, Marie

AU - Nath, Avi

AU - Novacic, Donna

AU - Pusey, Barbara N.

AU - Sharma, Prashant

AU - Toro, Camilo

AU - Wahl, Colleen E.

AU - Yu, Guoyun

AU - Gropman, Andrea L.

AU - Baker, Eva

AU - Adams, David R.

AU - Gahl, William A.

AU - Malicdan, May Christine V.

AU - Tifft, Cynthia J.

AU - Wolfe, Lynne A.

AU - Yang, John

AU - Brush, Matthew

AU - Gourdine, Jean Philippe F.

AU - Haendel, Melissa

AU - Koeller, David M.

AU - Kyle, Jennifer E.

AU - Metz, Thomas O.

AU - Waters, Katrina M.

AU - Webb-Robertson, Bobbie Jo M.

AU - Ashley, Euan A.

AU - Bernstein, Jonathan A.

AU - Bonner, Devon

AU - Coakley, Terra R.

AU - Fernandez, Liliana

AU - Fisher, Paul G.

AU - Hom, Jason

AU - Huang, Yong

AU - Kohler, Jennefer N.

AU - Majcherska, Marta M.

AU - Marwaha, Shruti

AU - McCormack, Colleen E.

AU - Reuter, Chloe M.

AU - Sampson, Jacinda B.

AU - Smith, Kevin S.

AU - Wheeler, Matthew T.

AU - Zastrow, Diane B.

AU - Zhao, Chunli

AU - Cole, F. Sessions

AU - Wambach, Jennifer

AU - Baldridge, Dustin

AU - Schedl, Timothy

AU - Solnica-Krezel, Lilianna

AU - Pak, Stephen

AU - Shin, Jimann

N1 - Funding Information: This research was supported by the National Institutes of Health (NIH) Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

PY - 2021/10

Y1 - 2021/10

UR - http://www.scopus.com/inward/record.url?scp=85111748453&partnerID=8YFLogxK

U2 - 10.1038/s41436-021-01179-w

DO - 10.1038/s41436-021-01179-w

M3 - Comment/debate

C2 - 34230636

AN - SCOPUS:85111748453

SN - 1098-3600

VL - 23

SP - 1830

EP - 1832

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 10

ER -

One is the loneliest number: genotypic matchmaking using the electronic health record

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