In This Issue |
Articles in 2021
Filters
-
Article Type
-
Year
- All (23)
- 2021 (23)
-
-
News |
News
-
Article |
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
- Noam Domniz
- , Liat Ries Levavi
- , Michal Berkenstadt
- , Elon Pras
- , Yoram Cohen
- , Hila Raanani
- , Dana Brabbing Goldstein
- , Yuval Yaron
- , Shai Elizur
- & Shay Ben-Shachar
-
Article |
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
- Avi Fellner
- , Noa Ruhrman-Shahar
- , Naama Orenstein
- , Gabriel Lidzbarsky
- , Alan R. Shuldiner
- , Claudia Gonzaga-Jauregui
- , Hadar Brown-Shalev
- , Ofir Hagari-Bechar
- , Lily Bazak
- & Lina Basel-Salmon
-
Article
| Open AccessA pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
- Min Ni
- , Bushra Afroze
- , Chao Xing
- , Chunxiao Pan
- , Yanqiu Shao
- , Ling Cai
- , Brandi L. Cantarel
- , Jimin Pei
- , Nick V. Grishin
- , Stacy Hewson
- , Devon Knight
- , Sonal Mahida
- , Donnice Michel
- , Mark Tarnopolsky
- , Annapurna Poduri
- , Alexander Rotenberg
- , Neal Sondheimer
- & Ralph J. DeBerardinis
-
Article |
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
- Alison M. Muir
- , Jennifer F. Gardner
- , Richard H. van Jaarsveld
- , Iris M. de Lange
- , Jasper J. van der Smagt
- , Golder N. Wilson
- , Holly Dubbs
- , Ethan M. Goldberg
- , Lia Zitano
- , Caleb Bupp
- , Jose Martinez
- , Myriam Srour
- , Andrea Accogli
- , Afnan Alhakeem
- , Meira Meltzer
- , Andrea Gropman
- , Carole Brewer
- , Richard C. Caswell
- , Tara Montgomery
- , Caoimhe McKenna
- , Shane McKee
- , Corinna Powell
- , Pradeep C. Vasudevan
- , Angela F. Brady
- , Shelagh Joss
- , Carolyn Tysoe
- , Grace Noh
- , Mark Tarnopolsky
- , Lauren Brady
- , Muhammad Zafar
- , Samantha A. Schrier Vergano
- , Brianna Murray
- , Lindsey Sawyer
- , Bryan E. Hainline
- , Katherine Sapp
- , Danielle DeMarzo
- , Darcy J. Huismann
- , Ingrid M. Wentzensen
- , Rhonda E. Schnur
- , Kristin G. Monaghan
- , Jane Juusola
- , Lindsay Rhodes
- , William B. Dobyns
- , Francois Lecoquierre
- , Alice Goldenberg
- , Tilman Polster
- , Susanne Axer-Schaefer
- , Konrad Platzer
- , Chiara Klöckner
- , Trevor L. Hoffman
- , Daniel G. MacArthur
- , Melanie C. O’Leary
- , Grace E. VanNoy
- , Eleina England
- , Vinod C. Varghese
- & Heather C. Mefford
-
Article |
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics
- Hadley Stevens Smith
- , Rachel Franciskovich
- , Andrea M. Lewis
- , Amanda Gerard
- , Rebecca O. Littlejohn
- , Kimberly Nugent
- , Janah Rodriguez
- & Haley Streff
-
Comment |
Is precision medicine relevant in the age of COVID-19?
- Amy Zhou
- , Maya Sabatello
- , Gil Eyal
- , Sandra Soo-Jin Lee
- , John W. Rowe
- , Deborah F. Stiles
- , Ashley Swanson
- & Paul S. Appelbaum
-
Article |
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma
- María Santos
- , Javier Lanillos
- , Juan María Roldan-Romero
- , Eduardo Caleiras
- , Cristina Montero-Conde
- , Alberto Cascón
- , Miguel Angel Climent
- , Georgia Anguera
- , Susana Hernando
- , Nuria Laínez
- , Mercedes Robledo
- , Luis Robles
- , Guillermo de Velasco
- , Jesús García-Donas
- & Cristina Rodriguez-Antona
-
Article |
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes
- Leandra K. Tolusso
- , Paige Hazelton
- , Beatrix Wong
- & Daniel T. Swarr
-
Article |
Newborn bloodspot screening in the time of COVID-19
- Ronda F. Greaves
- , James Pitt
- , Candice McGregor
- , Meaghan Wall
- & John Christodoulou
-
Article |
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening
- Nicole Ruiz-Schultz
- , David Sant
- , Stevie Norcross
- , Warunee Dansithong
- , Kim Hart
- , Bryce Asay
- , Jordan Little
- , Krystal Chung
- , Kelly F. Oakeson
- , Erin L. Young
- , Karen Eilbeck
- & Andreas Rohrwasser
-
Article |
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
- Rebecca A. Rojas
- , Anna A. Kutateladze
- , Lacey Plummer
- , Maria Stamou
- , David L. Keefe Jr
- , Kathyrn B. Salnikov
- , Angela Delaney
- , Janet E. Hall
- , Ruslan Sadreyev
- , Fei Ji
- , Eric Fliers
- , Katarina Gambosova
- , Richard Quinton
- , Paulina M. Merino
- , Veronica Mericq
- , Stephanie B. Seminara
- , William F. Crowley Jr
- & Ravikumar Balasubramanian
-
Article |
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Denise Horn
- , Elisa Fernández-Núñez
- , Ricardo Gomez-Carmona
- , Ana Rivera-Barahona
- , Julian Nevado
- , Sarina Schwartzmann
- , Nadja Ehmke
- , Pablo Lapunzina
- , Ghada A. Otaify
- , Samia Temtamy
- , Mona Aglan
- , Felix Boschann
- & Victor L. Ruiz-Perez
-
Correspondence |
Response to Biesecker et al.
- Joseph J. Shen
- , Saskia B. Wortmann
- , Leo A. J. Kluijtmans
- , Christin D. Collins
- , Robin van der Lee
- , Clara D. M. van Karnebeek
- & Madhuri R. Hegde
-
Special Article |
Does the law require reinterpretation and return of revised genomic results?
- Ellen Wright Clayton
- , Paul S. Appelbaum
- , Wendy K. Chung
- , Gary E. Marchant
- , Jessica L. Roberts
- & Barbara J. Evans
-
Brief Communication |
Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics
- Dianbo Liu
- , Karen L. Olson
- , Shannon F. Manzi
- & Kenneth D. Mandl
-
Special Article |
“It seems like COVID-19 now is the only disease present on Earth”: living with a rare or undiagnosed disease during the COVID-19 pandemic
- Meghan C. Halley
- , Talia Stanley
- , Jay Maturi
- , Aaron J. Goldenberg
- , Jonathan A. Bernstein
- , Matthew T. Wheeler
- & Holly K. Tabor
-
Article |
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management
- Cameron D. Thomas
- , Hari K. Parvataneni
- , Chancellor F. Gray
- , Justin T. Deen
- , Hernan A. Prieto
- , Luis F. Pulido
- , Amanda R. Elsey
- , Erica N. Elwood
- , Petr Starostik
- , Yan Gong
- , Roger B. Fillingim
- , Julie A. Johnson
- & Larisa H. Cavallari
-
Article |
Private payer coverage policies for ApoE-e4 genetic testing
- Jalayne J. Arias
- , Ana M. Tyler
- , Michael P. Douglas
- & Kathryn A. Phillips
-
Article |
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
- Uirá Souto Melo
- , Devon Bonner
- , Kevin C. Kent Lloyd
- , Ala Moshiri
- , Brandon Willis
- , Louise Lanoue
- , Lynette Bower
- , Brian C. Leonard
- , Davi Jardim Martins
- , Fernando Gomes
- , Felipe de Souza Leite
- , Danyllo Oliveira
- , João Paulo Kitajima
- , Fabiola P. Monteiro
- , Mayana Zatz
- , Carlos Frederico Martins Menck
- , Matthew T. Wheeler
- , Jonathan A. Bernstein
- , Kevin Dumas
- , Elizabeth Spiteri
- , Nataliya Di Donato
- , Arne Jahn
- , Mais Hashem
- , Hessa S. Alsaif
- , Aziza Chedrawi
- , Fowzan S. Alkuraya
- , Fernando Kok
- & Heather M. Byers
-
Systematic Review |
Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review
- Agnes Sebastian
- , June C. Carroll
- , Leslie E. Oldfield
- , Chloe Mighton
- , Salma Shickh
- , Elizabeth Uleryk
- & Yvonne Bombard
-
Article |
CNV profiles of Chinese pediatric patients with developmental disorders
- Haiming Yuan
- , Shaofang Shangguan
- , Zhengchang Li
- , Jingsi Luo
- , Jiasun Su
- , Ruen Yao
- , Shun Zhang
- , Chen Liang
- , Qian Chen
- , Zhijie Gao
- , Yanli Zhu
- , Shujie Zhang
- , Wei Li
- , Weiliang Lu
- , Yu Zhang
- , Hua Xie
- , Fang Liu
- , Qingming Wang
- , Yangyang Lin
- , Liying Liu
- , Xiuming Wang
- , Liyang Liang
- , Jianmin Zhong
- , Haibo Li
- , Haiyan Qiu
- , Huifeng Zhang
- , Mei Yan
- , Maimaiti Mireguli
- , Yanhui Liu
- , Dan Zhang
- , Hongying Wang
- , Haitao Lv
- , Bobo Xie
- , Chunrong Gui
- , Xiaodai Cui
- , Liping Zou
- , Jian Wang
- , James F. Gusella
- , Yiping Shen
- & Xiaoli Chen
