Monica A Giovanni

Monica A Giovanni

UNVERIFIED PROFILE

Are you Monica A Giovanni?   Register this Author

Register author
Monica A Giovanni

Monica A Giovanni

Publications by authors named "Monica A Giovanni"

Are you Monica A Giovanni?   Register this Author

14Publications

496Reads

7Profile Views

Obtaining a Genetic Family History Using Computer-Based Tools.

Curr Protoc Hum Genet 2019 01 18;100(1):e72. Epub 2018 Oct 18.

Genetics Department, Yale University, New Haven, Connecticut.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/cphg.72
Publisher Site
http://dx.doi.org/10.1002/cphg.72DOI Listing
January 2019

Genome-first findings require precision phenotyping.

Genet Med 2018 12 8;20(12):1510-1511. Epub 2018 Jun 8.

Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0026-4DOI Listing
December 2018

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Health-care referrals from direct-to-consumer genetic testing.

Genet Test Mol Biomarkers 2010 Dec 28;14(6):817-9. Epub 2010 Oct 28.

Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2010.0051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001829PMC
December 2010

Risks of presymptomatic direct-to-consumer genetic testing.

N Engl J Med 2010 Sep 18;363(12):1100-1. Epub 2010 Aug 18.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://www.nejm.org/doi/abs/10.1056/NEJMp1006029
Publisher Site
http://dx.doi.org/10.1056/NEJMp1006029DOI Listing
September 2010

The application of computer-based tools in obtaining the genetic family history.

Curr Protoc Hum Genet 2010 Jul;Chapter 9:Unit 9.21

Brigham and Women's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/0471142905.hg0921s66DOI Listing
July 2010