Sharyn A. Lincoln

发表

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, J. Sinsheimer, K. Schoch, 2018, Journal of Genetic Counseling.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors

Sharyn A. Lincoln, D. Rintell, Carly Murphy, 2016, Journal of Genetic Counseling.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

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.

EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome

Sharyn A. Lincoln, A. Rotenberg, S. Kothare, 2014, International Journal of Developmental Neuroscience.

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions

Sharyn A. Lincoln, C. Martin, B. Finucane, 2017, Prenatal diagnosis.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular genetics.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders

Sharyn A. Lincoln, David T. Miller, Jun Shen, 2014, Current Genetic Medicine Reports.

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Sharyn A. Lincoln, C. Walsh, K. Miller, 2010, Pediatrics.

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.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Angeliki Pantazi, Nikolaos A Patsopoulos, Ignaty Leshchiner, 2018, npj Genomic Medicine.

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Emily G. Kelley, Sharyn A. Lincoln, Ellen F. Macnamara, 2020, Molecular genetics & genomic medicine.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Anselm H. C. Horn, Sharyn A. Lincoln, A. Verloes, 2019, Genetics in Medicine.

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.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Sharyn A. Lincoln, W. Chung, M. Tarnopolsky, 2016, Human Genetics.

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.

BRAT1 mutations present with a spectrum of clinical severity

Sharyn A. Lincoln, David T. Miller, J. Soul, 2016, American journal of medical genetics. Part A.

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.

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.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

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.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome

Sharyn A. Lincoln, W. Kaufmann, E. Berry-Kravis, 2017, Pediatrics.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Sharyn A. Lincoln, Michael F. Wangler, J. Rosenfeld, 2021, Genetics in Medicine.

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.

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.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Sharyn A. Lincoln, Rebecca C. Spillmann, J. Sinsheimer, 2018, Journal of Genetic Counseling.

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.

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.