Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

D. McKnight · SciRah

Researcher profile · Semantic Scholar

D. McKnight

Share profile

D. McKnight — researcher profile on SciRah

h-index: 28
Works: 62
Citations: 3,521

Most-cited papers

Clinical application of whole-exome sequencing across clinical indications
K. Retterer, J. Juusola, M. Cho, P. Vitazka +17 more
2015Genetics in Medicine975 citations Open access
Semantic Scholar
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
Amanda Lindy, M. Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill +5 more
2018Epilepsia276 citations Open access
Semantic Scholar
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K. Platzer, Hong-Jie Yuan, H. Schütz, Alexander Winschel +71 more
2017Journal of Medical Genetics228 citations Open access
Semantic Scholar
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
M. Stosser, Amanda Lindy, Elizabeth Butler, K. Retterer +3 more
2017Genetics in Medicine149 citations Open access
Semantic Scholar
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Akemi J. Tanaka, M. Cho, F. Millan, J. Juusola +19 more
2015American Journal of Human Genetics145 citations Open access
Semantic Scholar
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
J. A. López-Rivera, E. Pérez-Palma, J. Symonds, Amanda Lindy +6 more
2020Brain : a journal of neurology132 citations Open access
Semantic Scholar
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
H. Rehm, J. Alaimo, S. Aradhya, P. Bayrak-Toydemir +58 more
2023Genetics in Medicine118 citations Open access
Semantic Scholar
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Sahar Esmaeeli Nieh, Maura R. Z. Madou, M. Sirajuddin, Brieana Fregeau +16 more
2015Annals of Clinical and Translational Neurology111 citations Open access
Semantic Scholar
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
D. McKnight, P. S. Hart, T. C. Hart, J. Hartsfield +3 more
2008Human Mutation107 citations Open access
Semantic Scholar
Overlapping DSPP Mutations Cause DD and DGI
D. McKnight, J. P. Simmer, P. Hart, T. C. Hart +1 more
2008Journal of dentistry research100 citations Open access
Semantic Scholar
TM14 Is a New Member of the Fibulin Family (Fibulin-7) That Interacts with Extracellular Matrix Molecules and Is Active for Cell Binding*
S. de Vega, Tsutomu Iwamoto, Takashi Nakamura, Kentaro Hozumi +4 more
2007Journal of Biological Chemistry96 citations Open access
Semantic Scholar
Current knowledge of SLC6A1-related neurodevelopmental disorders
Kimberly Goodspeed, E. Pérez-Palma, S. Iqbal, Dominique Cooper +18 more
2020Brain Communications87 citations Open access
Semantic Scholar
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
D. McKnight, A. Morales, K. Hatchell, S. Bristow +121 more
2022JAMA Neurology81 citations Open access
Semantic Scholar
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Chun-An Chen, Daniëlle G. M. Bosch, M. Cho, J. Rosenfeld +31 more
2016Genetics in Medicine79 citations Open access
Semantic Scholar
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
M. Srour, F. Hamdan, D. McKnight, E. Davis +29 more
2015American Journal of Human Genetics72 citations Open access
Semantic Scholar
A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy
S. Srivastava, J. Cohen, J. Pevsner, S. Aradhya +4 more
2014American Journal of Medical Genetics. Part A69 citations Open access
Semantic Scholar
SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.
B. Ng, P. Sosicka, S. Agadi, M. Almannai +65 more
2019Human Mutation67 citations Open access
Semantic Scholar
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
Kyle A Metz, Xin-Chen Teng, I. Coppens, Heather M. Lamb +39 more
2018Annals of Neurology59 citations Open access
Semantic Scholar
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity
Carlos G. Vanoye, R. Desai, Zhigang Ji, Sneha Adusumilli +11 more
2021bioRxiv58 citations Open access
Semantic Scholar
Spectrum of KV2.1 Dysfunction in KCNB1-associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria +28 more
2019Annals of Neurology57 citations Open access
Semantic Scholar
Rough Endoplasmic Reticulum (rER) Trafficking Errors by Different Classes of Mutant DSPP Cause the Dominant Negative Effects in both Dentinogenesis Imperfecta and Dentin Dysplasia by Entrapping Normal DSPP
Z. von Marschall, Seeun Mok, M. Phillips, D. McKnight +1 more
2012Journal of Bone and Mineral Research55 citations Open access
Semantic Scholar
Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
Y. Zarate, H. Perry, T. Ben-Omran, E. Sellars +14 more
2015American Journal of Medical Genetics. Part A54 citations
Semantic Scholar
Molecular evolution of dentin phosphoprotein among toothed and toothless animals
D. McKnight, L. Fisher
2009BMC Evolutionary Biology44 citations Open access
Semantic Scholar
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
D. McKnight, S. Bristow, R. Truty, A. Morales +9 more
2021Neurology: Genetics41 citations Open access
Semantic Scholar
Small Integrin Binding Proteins as Serum Markers for Prostate Cancer Detection
A. Jain, D. McKnight, L. Fisher, E. Humphreys +3 more
2009Clinical Cancer Research40 citations Open access
Semantic Scholar
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Hyung-Goo Kim, J. Rosenfeld, D. Scott, Gerard Bénédicte +24 more
2019Molecular Autism39 citations Open access
Semantic Scholar
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females
R. Webster, M. Cho, K. Retterer, F. Millan +10 more
2017Clinical Genetics35 citations Open access
Semantic Scholar
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures
D. Stern, M. Cho, Rashmi Chikarmane, R. Willaert +21 more
2017Clinical Genetics32 citations Open access
Semantic Scholar
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets
Perry Evans, Chao Wu, Amanda Lindy, D. McKnight +3 more
2019Genome Research25 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype
F. Zou, K. McWalter, Lindsay Schmidt, Amy Decker +20 more
2017Journal of neurogenetics17 citations Open access
Semantic Scholar
First‐trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next‐generation sequencing
D. Jones, F. Fiozzo, B. Waters, D. McKnight +1 more
2014Ultrasound in Obstetrics and Gynecology17 citations Open access
Semantic Scholar
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
D. McKnight, Lora J. H. Bean, I. Karbassi, K. Beattie +14 more
2021Human Mutation16 citations Open access
Semantic Scholar
Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.
P. Benke, M. Duchowny, D. McKnight
2017Pediatric Neurology13 citations
Semantic Scholar
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
F. Leal-Pardinas, R. Truty, D. McKnight, Britt A. Johnson +10 more
2022Epilepsia9 citations Open access
Semantic Scholar
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Chloe E. Mighton, A. Abu-El-Haija, Vimla Aggarwal, Yassmine M. N. Akkari +12 more
2026Genetics in Medicine7 citations Open access
Semantic Scholar
Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness
Elise Brimble, Joseph Kim, Richard L. Martin, D. McKnight +1 more
2023medRxiv3 citations Open access
Semantic Scholar
Genetic testing of >1300 patients with cerebral palsy reveals an etiology in one-third of cases, underscoring the need for broad genetic testing and a significant recurrence risk for families. (P4.6-028)
F. Millan, H. Elloumi, Claire Teigen, Julie Scuffins +2 more
2019Neurology2 citations
Semantic Scholar
P537: Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing
A. Popejoy, A. Morales, D. McKnight
2023Genetics in Medicine Open1 citations Open access
Semantic Scholar
The impact of machine learning models in reducing variants of uncertain significance for individuals from underrepresented populations who are undergoing testing for inborn errors of immunity
B. Johnson, A. Morales, F. Facio, L. Frésard +6 more
2023Clinical Immunology1 citations
Semantic Scholar
eP119: The landscape of peripheral neuropathy genetics: When common causes are not actually the cause
J. Roggenbuck, Asia Mitchel, A. Morales, Molly Stetler +5 more
2022Genetics in Medicine1 citations Open access
Semantic Scholar
A Comprehensive and Dynamic Approach for Genetic Testing for Patient with Leukodystrophy Demonstrates a Genetic Etiology in 33% of Cases (P4.6-054)
Fanggeng Zou, Taylor Zuck, Courtney Downtain Pickersgill, Francisca Millan Zamora +3 more
2019Neurology1 citations
Semantic Scholar
High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria +28 more
2019bioRxiv1 citations Open access
Semantic Scholar
GRIN2B Encephalopathy: Novel Findings
J. Lemke, M. Mintz, C. Stanley, Douglas R. Smith +71 more
20171 citations
Semantic Scholar
EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17.004)
F. Millán, D. McKnight, Julie Scuffins, Jane Juusola +2 more
2017Neurology1 citations
Semantic Scholar
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Chun-An Chen, Daniëlle G. M. Bosch, Megan T. Cho Scm, J. Rosenfeld +31 more
2017Genetics in Medicine1 citations Open access
Semantic Scholar
Comparison of the Diagnostic Yield of Comprehensive and Phenotypically Driven Multi-Gene Panels for Neuromuscular Disorders (P5.055)
Amanda Lindy, M. Bradbury, S. Suchy, D. McKnight
2016Neurology1 citations
Semantic Scholar
LONG-CHAIN FATTY ACID OXIDATION DISORDER GENOTYPES, CLINICAL SIGNS AND SYMPTOMS, AND NEWBORN SCREENING HISTORY FROM A GENE PANEL SPONSORED PROGRAM
V. R. Miller, O. Japalaghi, N. Longo, D. Marsden +2 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations
B. Johnson, A. Morales, F. Facio, L. Frésard +6 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS
A. Morales, B. Johnson, M. Vatta, F. Facio +7 more
2023Heart Rhythm0 citations Open access
Semantic Scholar
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS
Britt A. Johnson, F. Facio, A. Morales, L. Frésard +6 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

S. Aradhya×9
Invite
S. Aradhya — researcher profile on SciRah
K. Retterer×8
Invite
K. Retterer — researcher profile on SciRah
A. Morales×8
Invite
A. Morales — researcher profile on SciRah
Amanda Lindy×7
Invite
Amanda Lindy — researcher profile on SciRah

×6

Invite

F. Millan — researcher profile on SciRah

Invite

G. Richard — researcher profile on SciRah

Invite

J. Juusola — researcher profile on SciRah

Invite

M. Cho — researcher profile on SciRah

Invite

W. Chung — researcher profile on SciRah

J. J. van der Smagt×5

Invite

J. J. van der Smagt — researcher profile on SciRah

J. Millichap×5

Invite

J. Millichap — researcher profile on SciRah

Invite

L. Fisher — researcher profile on SciRah