D. McKnight

Z. von Marschall, D. McKnight, L. Fisher, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular evolution of dentin phosphoprotein among toothed and toothless animals

D. McKnight, L. Fisher, 2009, BMC Evolutionary Biology.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Robert P. Carson, Robert C. Pedersen, Sean T. Hwang, 2022, JAMA neurology.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

A comprehensive analysis of normal variation and disease‐causing mutations in the human DSPP gene

J. T. Wright, D. McKnight, L. Fisher, 2008, Human mutation.

Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta

D. McKnight, J. Simmer, T. Hart, 2008, Journal of dental research.

Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.

M. Duchowny, D. McKnight, P. Benke, 2017, Pediatric neurology.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Current knowledge of SLC6A1-related neurodevelopmental disorders

A. Scimemi, V. Crunelli, C. Brownstein, 2020, Brain communications.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

E. Wirrell, R. Sankar, R. Truty, 2022, Epilepsia.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

J. Rosenfeld, I. Coppens, T. Loddenkemper, 2018, Annals of neurology.

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

R. Møller, E. Pérez-Palma, D. Lal, 2020, Brain : a journal of neurology.

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Amanda S. Lindy, Mary Beth Stosser, Elizabeth Butler, 2017, Genetics in Medicine.

Small Integrin-Binding Proteins as Serum Markers for Prostate Cancer Detection

A. Partin, E. Humphreys, L. Mangold, 2009, Clinical Cancer Research.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

J. Rosenfeld, Cheol‐Hee Kim, O. Hummel, 2019, Molecular Autism.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

First‐trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next‐generation sequencing

B. Waters, D. McKnight, D. Jones, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

F. Zou, I. Helbig, E. Cooper, 2021, bioRxiv.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, bioRxiv.

TM14 Is a New Member of the Fibulin Family (Fibulin-7) That Interacts with Extracellular Matrix Molecules and Is Active for Cell Binding*

Takashi Nakamura, D. McKnight, Yoshihiko Yamada, 2007, Journal of Biological Chemistry.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

Matthew S. Lebo, Chao Wu, Perry Evans, 2019, Genome research.

Genetic variant pathogenicity prediction trained using large-scale disease specific clinical sequencing datasets

Matthew S. Lebo, Chao Wu, Perry Evans, 2018, bioRxiv.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

E. Brimble, D. McKnight, J. Kim, 2023, medRxiv.

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

J. Fish, O. Klein, A. Slavotinek, 2015, American journal of medical genetics. Part A.

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

B. Burton, M. Deardorff, E. Bedoukian, 2017, Clinical genetics.

Comparison of the Diagnostic Yield of Comprehensive and Phenotypically Driven Multi-Gene Panels for Neuromuscular Disorders (P5.055)

M. Bradbury, Amanda S. Lindy, D. McKnight, 2016 .

First‐trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next‐generation sequencing

B. Waters, D. McKnight, D. Jones, 2014, Ultrasound in Obstetrics and Gynecology.

Molecular evolution of dentin phosphoprotein among toothed and toothless animals

D. McKnight, L. Fisher, 2009, BMC Evolutionary Biology.

Human Mutation

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.