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

Leigh Anne Tang | Mercedes E. Alejandro | Mahshid S. Azamian | Gabriel F. Batzli | Laurel A. Cobban | Rena A. Godfrey | Emily G. Kelley | Sharyn A. Lincoln | Ellen F. Macnamara | Marta M. Majcherska | Neil H. Parker | Barbara N. Pusey | Amy K. Robertson | Kevin S. Smith | Cecelia P. Tamburro | Alyssa A. Tran | Colleen E. Wahl | Michael F. Wangler | Jeremy D. Woods | Diane B. Zastrow | Q. K. Tan | G. Marth | J. Rosenfeld | A. Raja | J. Postlethwait | M. Westerfield | E. Silverman | J. Papp | J. Sinsheimer | I. Kohane | M. Wheeler | G. Bejerano | V. Maduro | A. McCray | J. Loscalzo | S. Lalani | Laurent Frésard | J. Peterson | B. Boone | L. Botto | A. Quinlan | P. Moretti | J. Stoler | M. Haendel | F. Telischi | J. S. Newberry | R. Maas | A. Goldman | W. Craigen | B. Webb-Robertson | H. Bellen | D. Adams | C. Toro | C. Tifft | W. Gahl | T. Markello | P. Ward | C. Eng | H. Tabor | A. Beggs | D. Krasnewich | A. Gropman | M. Davids | L. Wolfe | V. Shashi | K. Schoch | L. Bastarache | T. Metz | M. Ruzhnikov | I. Holm | S. Samson | J. Krier | P. Bayrak-Toydemir | J. Mulvihill | K. Waters | M. Might | O. Carrasquillo | N. Longo | J. Kohler | D. Bonner | S. Marwaha | J. Martinez-Agosto | C. Palmer | E. Worthey | J. Posey | J. Gourdine | D. Bick | J. Cogan | J. Newman | J. Phillips | R. Hamid | C. Reuter | G. Bademci | Hsiao-Tuan Chao | S. Nicholas | Camille L. Birch | Donna M. Brown | David D. Draper | C. Groden | C. Bacino | L. Potocki | M. Malicdan | L. Burrage | D. Viskochil | R. Mao | D. Krakow | M. Butte | B. Lanpher | J. Kyle | S. Loo | C. Macrae | N. Hanchard | A. Huang | J. Wan | Lee-kai Wang | N. Dorrani | B. Fogel | A. Wise | J. Dayal | S. Korrick | John Yang | Hane Lee | R. Spillmann | N. Stong | L. Solnica-Krezel | R. Marom | P. Agrawal | J. C. Pallais | D. Wegner | A. Yoon | Genecee Renteria | E. Douine | E. C. Dell'Angelica | P. Allard | D. Oglesbee | P. Fisher | Kimberly Leblanc | S. Dhar | A. Balasubramanyam | Chunli Zhao | S. Sutton | D. Barbouth | R. Rowley | Angela L. Jones | Prashant Sharma | D. Scott | D. Murdock | G. Clark | D. Sweetser | J. Wambach | M. Velinder | N. Walley | Cecilia Esteves | D. Koeller | Thomas May | M. Acosta | T. Urv | A. McConkie-Rosell | C. Lau | L. Rodan | Col Mccormack | J. Hom | R. Sacco | Eva Morava-Kozicz | I. Lanza | Liliana Fernandez | Jimann Shin | Kathy Sisco | L. Emrick | A. Andrews | C. Ferreira | J. Sampson | B. Martin | T. Vogel | L. Mamounas | M. Saporta | K. Shields | J. Schaechter | J. McCauley | J. Sullivan | A. Grajewski | F. High | M. Morimoto | Bret L. Bostwick | E. Burke | Heidi Cope | L. Briere | Elly Brokamp | Pengfei Liu | J. Carey | Precilla D’Souza | L. Karaviti | J. Bernstein | Jean M. Johnston | Surendra Dasari | Daniel C. Dorset | Cynthia M. Cooper | M. Tekin | A. Bican | Donna Novacic | T. Coakley | D. J. Eckstein | Tyra Estwick | Yong Huang | Guoyun Yu | J. Alvey | Jim Bale | Stephanie Bivona | Carsten Bonnenmann | Laura Duncan | E. Fieg | I. Forghani | Nichole Hayes | Fariha Jamal | Dana Kiley | Byron L. Lam | A. Nath | J. P. Orengo | Lynette C Rives | Lisa Shakachite | Catherine H. Sillari | R. Lewis | Teri A. Manolio | F. Cole | M. Walker | Yongjie Jiang | H. Colley | Shinya Yamamoto | Willa L Thorson | Dustin Baldridge | J. Bohnsack | Brendan H. Lee | Mary E. Koziura | David B. Goldstein | R. Levitt | X. Z. Liu | Stephen Pak | C. Walsh | Stephan Zuchner | E. Baker | Gerard T. Berry | Matthew Brush | J. Lazar | Shawn E. Levy | Martin G. Martin | Rebecca H. Signer | Ta Chen Peter Chang | Rosario Isasi | Timothy Schedl | S. Nelson | Euan A. Ashley | Mercedes E. Mahshid S. Carlos A. Ashok Bret L. Lindsay C. H Alejandro Azamian Bacino Balasubramanyam | Moretti Paolo | Pace Laura

[1]  Marc S. Williams,et al.  The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG) , 2020, Genetics in Medicine.

[2]  W. Chung,et al.  Is there a duty to reinterpret genetic data? The ethical dimensions , 2019, Genetics in Medicine.

[3]  Joshua L. Deignan,et al.  Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) , 2018, Genetics in Medicine.

[4]  B. Wilfond,et al.  Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) , 2018, Genetics in Medicine.

[5]  Sitao Wu,et al.  Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases , 2018, Genetics in Medicine.

[6]  Sitao Wu,et al.  Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases , 2016, Genetics in Medicine.

[7]  W. Chung,et al.  Clinical application of whole-exome sequencing across clinical indications , 2015, Genetics in Medicine.

[8]  Euan A Ashley,et al.  The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. , 2015, JAMA.

[9]  D. Valle,et al.  GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.

[10]  Michael Brudno,et al.  PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases , 2015, Human mutation.

[11]  Orion J. Buske,et al.  The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery , 2015, Human mutation.

[12]  Boris Yamrom,et al.  The contribution of de novo coding mutations to autism spectrum disorder , 2014, Nature.

[13]  B. Garcia,et al.  The RING finger protein MSL2 in the MOF complex is an E3 ubiquitin ligase for H2B K34 and is involved in crosstalk with H3 K4 and K79 methylation. , 2011, Molecular cell.

[14]  D. Roden,et al.  Development of a Large‐Scale De‐Identified DNA Biobank to Enable Personalized Medicine , 2008, Clinical pharmacology and therapeutics.

[15]  William Arbuthnot Sir Lane,et al.  A Human Protein Complex Homologous to the Drosophila MSL Complex Is Responsible for the Majority of Histone H4 Acetylation at Lysine 16 , 2005, Molecular and Cellular Biology.