Skip to Main Content

Author Details

Rebecca C Spillmann
Duke University School of Medicine
2015
30
18
PMIDPaper TitleJournal TitlePublished Year
37962958Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.J Clin Invest2024
36481303A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genet Med2023
37467750Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.Am J Hum Genet2023
37005744Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.J Genet Couns2023
36718090SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.Brain2023
36706750Exome/Genome Sequencing in Undiagnosed Syndromes.Annu Rev Med2023
34115423Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.J Genet Couns2022
36130591An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Am J Hum Genet2022
34211179Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nat Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
32730690Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Mol Genet Genomic Med2020
32083401Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.Am J Med Genet A2020
32047287Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genet Med2020
30580808Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.Am J Hum Genet2019
29907797A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.Genet Med2019
31448412The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.Clin Genet2019
31478310Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.J Genet Couns2019
30679821Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med2019
28914269Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.Genet Med2018
30193138IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
30134969Characteristics of undiagnosed diseases network applicants: implications for referring providers.BMC Health Serv Res2018
29970384Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.Cold Spring Harb Mol Case Stud2018
30057031IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
29497923Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.J Genet Couns2018
29297108Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?J Genet Couns2018
28139826Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Epilepsia2017
28416019A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.Orphanet J Rare Dis2017
26868367Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.J Genet Couns2016
25590979Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Genet Med2015
26369628Quinidine in the treatment of KCNT1-positive epilepsies.Ann Neurol2015
  • 1 - 30 of 30

Recommended Authors

Whitley V Kelley
HudsonAlpha Institute for Biotechnology
Career Start Year 2017
Number of shared co-authors 4
Casie A Genetti
Boston Children's Hospital
Career Start Year 2015
Number of shared co-authors 18
John Taylor
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Career Start Year 2015
Number of shared co-authors 8
Elise Valkanas
Massachusetts General Hospital
Career Start Year 2015
Number of shared co-authors 8
Jessica Giordano
Columbia University Irving Medical Center
Career Start Year 2015
Number of shared co-authors 14
Eleanor G Seaby
University of Southampton
Career Start Year 2014
Number of shared co-authors 14
Sawona Biswas
University of California San Francisco
Career Start Year 2013
Number of shared co-authors 6
Carolyn D Applegate
Johns Hopkins University School of Medicine
Career Start Year 2012
Number of shared co-authors 9
John J Connolly
Center for Applied Genomics, Children's Hospital of Philadelphia
Career Start Year 2012
Number of shared co-authors 8
Rebecca Truty
Invitae Corporation
Career Start Year 2012
Number of shared co-authors 3
Monica H Wojcik
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Career Start Year 2010
Number of shared co-authors 18
Kandamurugu Manickam
Nationwide Children's Hospital, The Ohio State University College of Medicine
Career Start Year 2010
Number of shared co-authors 16
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Career Start Year 2009
Number of shared co-authors 9
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Career Start Year 2009
Number of shared co-authors 18
Catherine A Brownstein
Harvard Medical School.
Career Start Year 2008
Number of shared co-authors 29
Julie S Cohen
Kennedy Krieger Institute
Career Start Year 2007
Number of shared co-authors 27
David Dimmock
Rady Children's Institute for Genomic Medicine
Career Start Year 2007
Number of shared co-authors 13
Gareth Baynam
King Edward Memorial Hospital
Career Start Year 2006
Number of shared co-authors 23
Kevin M Bowling
Washington University School of Medicine
Career Start Year 2006
Number of shared co-authors 12
Eden Haverfield
Invitae Corporation
Career Start Year 2005
Number of shared co-authors 10
David T Miller
Boston Children's Hospital
Career Start Year 2005
Number of shared co-authors 11
Murat Sincan
Boston University School of Public Health
Career Start Year 2004
Number of shared co-authors 5
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Career Start Year 2003
Number of shared co-authors 13
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 23
Zornitza Stark
Murdoch Children's Research Institute
Career Start Year 2001
Number of shared co-authors 35
Jonathan S Berg
University of North Carolina
Career Start Year 1999
Number of shared co-authors 16
Heidi L Rehm
The Broad Institute of MIT and Harvard
Career Start Year 1996
Number of shared co-authors 28
Jenny C Taylor
University of Oxford
Career Start Year 1996
Number of shared co-authors 26
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Career Start Year 1993
Number of shared co-authors 53
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 41

Collaborators

Vandana Shashi
Duke University School of Medicine
Co-authored papers 23
Kelly Schoch
Duke University School of Medicine
Co-authored papers 15
Loren D M Pena
Duke University Medical Center
Co-authored papers 12
Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
Co-authored papers 12
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 12
Heidi Cope
GenOmics and Translational Research Center
Co-authored papers 9
Jennifer A Sullivan
Duke University School of Medicine
Co-authored papers 9
David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
Co-authored papers 7
Nicole Walley
Duke University School of Medicine and Duke Health System
Co-authored papers 7
Stephen R Hooper
University of North Carolina-Chapel Hill
Co-authored papers 7
Hugo J Bellen
Baylor College of Medicine
Co-authored papers 3
Elly Brokamp
Vanderbilt Genetics Institute, Vanderbilt University Medical Center
Co-authored papers 3
Mohamad A Mikati
Duke University School of Medicine
Co-authored papers 3
Stanley F Nelson
university of california los angeles
Co-authored papers 3
Camilla Sanders
Duke University Medical Center
Co-authored papers 2
Hyung-Lok Chung
Baylor College of Medicine
Co-authored papers 2
Jennefer N Kohler
Stanford Center for Undiagnosed Diseases
Co-authored papers 2
Shinya Yamamoto
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 2
Anna C Need
Imperial College London
Co-authored papers 2
Shruti Marwaha
Stanford University
Co-authored papers 2
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 2
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 2
Michael F Wangler
Baylor College of Medicine
Co-authored papers 2
Ian D Krantz
Children's Hospital of Philadelphia
Co-authored papers 2
Henry J Lin
Co-authored papers 2
Kimberly H LeBlanc
National Institute on Drug Abuse
Co-authored papers 2
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 2
Yaping Yang
Baylor College of Medicine
Co-authored papers 2
Ingrid E Scheffer
Co-authored papers 2
Ghayda M Mirzaa
Seattle Children's Hospital.
Co-authored papers 2
Release 1.2