Showing 1–6 of 6 results
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Improving performance of multigene panels for genomic analysis of cancer predisposition
- Brian H. Shirts
- , Silvia Casadei
- , Angela L. Jacobson
- , Ming K. Lee
- , Suleyman Gulsuner
- , Robin L. Bennett
- , Margaret Miller
- , Sarah A. Hall
- , Heather Hampel
- , Fuki M. Hisama
- , Lorraine V. Naylor
- , Cathleen Goetsch
- , Kathleen Leppig
- , Jonathan F. Tait
- , Sheena M. Scroggins
- , Emily H. Turner
- , Robert Livingston
- , Stephen J. Salipante
- , Mary-Claire King
- , Tom Walsh
- & Colin C. Pritchard
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Amendments and Corrections |
Corrigendum: A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler
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Research |
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Research | | Open
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR
- Maya S. Safarova
- , Benjamin A. Satterfield
- , Xiao Fan
- , Erin E. Austin
- , Zhan Ye
- , Lisa Bastarache
- , Neil Zheng
- , Marylyn D. Ritchie
- , Kenneth M. Borthwick
- , Marc S. Williams
- , Eric B. Larson
- , Aaron Scrol
- , Gail P. Jarvik
- , David R. Crosslin
- , Kathleen Leppig
- , Laura J. Rasmussen-Torvik
- , Sarah A. Pendergrass
- , Amy C. Sturm
- , Bahram Namjou
- , Amy Sanghavi Shah
- , Robert J. Carroll
- , Wendy K. Chung
- , Wei-Qi Wei
- , QiPing Feng
- , C. Michael Stein
- , Dan M. Roden
- , Teri A. Manolio
- , Daniel J. Schaid
- , Joshua C. Denny
- , Scott J. Hebbring
- , Mariza de Andrade
- & Iftikhar J. Kullo
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Research |
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B Currall
- , Tom Cushing
- , Dezso David
- , Matthew A Deardorff
- , Annelies Dheedene
- , Marc D'Hooghe
- , Bert B A de Vries
- , Dawn L Earl
- , Heather L Ferguson
- , Heather Fisher
- , David R FitzPatrick
- , Pamela Gerrol
- , Daniela Giachino
- , Joseph T Glessner
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , Cristin Griffis
- , Karen W Gripp
- , Andrea L Gropman
- , Andrea Hanson-Kahn
- , David J Harris
- , Mark A Hayden
- , Rosamund Hill
- , Ron Hochstenbach
- , Jodi D Hoffman
- , Robert J Hopkin
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen Leppig
- , Alex V Levin
- , Haibo Li
- , Hong Li
- , Eric C Liao
- , Cynthia Lim
- , Edward J Lose
- , Diane Lucente
- , Michael J Macera
- , Poornima Manavalan
- , Giorgia Mandrile
- , Carlo L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William Rhead
- , Debra Rita
- , Ivo Renkens
- , Filip Roelens
- , Jayla Ruliera
- , Patrick Rump
- , Samantha L P Schilit
- , Ranad Shaheen
- , Rebecca Sparkes
- , Erica Spiegel
- , Blair Stevens
- , Matthew R Stone
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
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Research |
A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler