Dustin Baldridge

发表

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

John J. Mitchell, A. Green, P. Byers, 2008, Human mutation.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

R. Taft, M. Shinawi, S. Dahiya, 2021, American journal of medical genetics. Part A.

Signaling pathways in human skeletal dysplasias.

Brian Kelley, Dustin Baldridge, Brendan H. Lee, 2010, Annual review of genomics and human genetics.

MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism

J. Constantino, Dustin Baldridge, Patricia Mansfield, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons

J. Constantino, A. Bonni, K. Meganathan, 2019, bioRxiv.

22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy

J. Constantino, D. Baldridge, Sonam Vyas, 2019, Cold Spring Harbor molecular case studies.

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome Graphical Abstract Highlights

J. Constantino, J. Dougherty, Daofeng Li, 2019 .

Digynic triploidy: utility and challenges of noninvasive prenatal testing

M. Shinawi, K. Goetzinger, C. Cottrell, 2015, Clinical case reports.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.

J. Rosenfeld, S. Lalani, T. Schedl, 2022, Molecular genetics and metabolism.

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Lisa T. Emrick, J. Rosenfeld, S. Lalani, 2022, bioRxiv.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

S. Antonarakis, J. Constantino, L. Nosková, 2022, American journal of human genetics.

The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

Dustin Baldridge, Marwan Shinawi, M. Shinawi, 2017, Genetics in Medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

S. Leal, R. Stevenson, G. B. Schaefer, 2019, bioRxiv.

Generalized Connective Tissue Disease in Crtap-/- Mouse

P. Byers, Brendan H. Lee, D. Eyre, 2010, PloS one.

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

Rebecca C. Spillmann, V. Shashi, R. Spillmann, 2020, American journal of medical genetics. Part A.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

D. Nickerson, Martin Kircher, M. Bamshad, 2018, American journal of human genetics.

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

B. Dawson, R. Gibbs, M. Bainbridge, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

P. Beighton, Y. Gillerot, N. Elçioglu, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

A. Pestronk, T. Strom, R. Schmidt, 2017, Human mutation.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

S. Leal, R. Stevenson, G. B. Schaefer, 2020, American journal of human genetics.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Precise breakpoint detection in a patient with 9p– syndrome

Jeffrey K. Ng, Eleanor I Sams, Milinn Kremitzki, 2020, Cold Spring Harbor molecular case studies.

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

J. Constantino, F. Urano, A. Bonni, 2021, BMC biology.

Alterations in neuronal physiology, development, and function associated with a common duplication of chromosome 15 involving CHRNA7

J. Constantino, F. Urano, A. Bonni, 2020, bioRxiv.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

David R. Murdock, J. Rosenfeld, T. Schedl, 2022, Proceedings of the National Academy of Sciences.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

P. Byers, Brendan H. Lee, D. Eyre, 2010, American journal of human genetics.

Sequence and Structure of the Mouse Connexin45 Gene

F. Lecanda, J. Stains, R. Civitelli, 2001, Bioscience reports.

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.

Ellen F. Macnamara, T. Schedl, A. Soldatos, 2021, Molecular genetics and metabolism.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

p53 mutations exhibit sex specific gain-of-function activity in gliomagenesis

O. Griffith, B. Cohen, N. Warrington, 2021, bioRxiv.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Sex- and Mutation-Specific p53 Gain-of-Function Activity in Gliomagenesis

O. Griffith, B. Cohen, N. Warrington, 2021, Cancer research communications.

Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures

J. Shimony, D. Spencer, M. Shinawi, 2018, Pediatric Research.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome

J. Constantino, J. Dougherty, Daofeng Li, 2018, Cell reports.

Signaling pathways in human skeletal dysplasias.

Brendan H. Lee, Brian Kelley, O. Shchelochkov, 2010, Annual review of genomics and human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

The Brain Gene Registry: a data snapshot

E. Riggs, J. Savatt, C. Gurnett, 2024, Journal of neurodevelopmental disorders.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.