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Dana Kiley
Observed institutions:
National Institutes of Health,
Children's Hospital of Philadelphia,
Duke University,
Washington University in St. Louis,
Yale University,
National Human Genome Research Institute,
Duke Medical Center,
Washington University Medical Center,
University of California, Davis
show all 9
OpenAlex ID:
A5040887243
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
2019
·
Elena-Raluca Nicoli
, Mary R. Weston
, et al.
·
The American Journal of Human Genetics
·
96
PDF
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
2020
·
Dongxue Mao
, Chloe M. Reuter
, et al.
·
The American Journal of Human Genetics
·
68
PDF
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
2019
·
Oguz Kanca
, Jonathan C. Andrews
, et al.
·
The American Journal of Human Genetics
·
54
PDF
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
2019
·
Andrea Accogli
, Sara Calabretta
, et al.
·
The American Journal of Human Genetics
·
53
PDF
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
2020
·
Sacha Ferdinandusse
, Kirsty McWalter
, et al.
·
Genetics in Medicine
·
52
PDF
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
2021
·
Lance H. Rodan
, Rebecca C. Spillmann
, et al.
·
Genetics in Medicine
·
49
PDF
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020
·
Pauline E Schneeberger
, Fanny Kortüm
, et al.
·
Brain
·
48
PDF
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
2024
·
Victoria E. Rael
, Julian A. Yano
, et al.
·
The Journal of Experimental Medicine
·
43
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
2020
·
Kelly Schoch
, Cecilia Esteves
, et al.
·
Genetics in Medicine
·
41
PDF
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
2023
·
Burak Tepe
, Erica L. Macke
, et al.
·
The American Journal of Human Genetics
·
39
PDF
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
2022
·
Siddharth Srivastava
, Hagar Mor Shaked
, et al.
·
Brain
·
37
PDF
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
2021
·
Felix Marbach
, Georgi Stoyanov
, et al.
·
Genetics in Medicine
·
28
PDF
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
2021
·
Shilpa Nadimpalli Kobren
, Dustin Baldridge
, et al.
·
Genetics in Medicine
·
27
PDF
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
2021
·
Thomas A. Ravenscroft
, Jennifer B. Phillips
, et al.
·
Genetics in Medicine
·
23
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
2023
·
Eva Niggl
, Arjan Bouman
, et al.
·
The American Journal of Human Genetics
·
22
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
2023
·
Marie Morimoto
, Vikas Bhambhani
, et al.
·
npj Genomic Medicine
·
18
PDF
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
2025
·
Isabelle B. Cooperstein
, Shruti Marwaha
, et al.
·
Genome Medicine
·
17
PDF
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
2022
·
Matthew N Bainbridge
, Aloran Mazumder
, et al.
·
Brain
·
17
PDF
The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder
2022
·
Scott Barish
, Mumine Senturk
, et al.
·
Human Molecular Genetics
·
16
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
2024
·
Maimuna S. Paul
, Sydney L. Michener
, et al.
·
The American Journal of Human Genetics
·
15
PDF
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
2023
·
Vandana Shashi
, Vandana Shashi
, et al.
·
Genetics in Medicine
·
14
PDF
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
2022
·
Suma P. Shankar
, Kristin Grimsrud
, et al.
·
Genetics in Medicine
·
14
PDF
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
2023
·
Lauren Jeffries
, Emily K. Mis
, et al.
·
Genetics in Medicine
·
12
PDF
De novo variants in DENND5B cause a neurodevelopmental disorder
2024
·
Marcello Scala
, Valeria Tomati
, et al.
·
The American Journal of Human Genetics
·
11
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
2019
·
Aashim Bhatia
, Bret C. Mobley
, et al.
·
Clinical Imaging
·
10
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Works count:
45
Citation count:
901
H-index:
17
I10-index:
25
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