C. Palmer

发表

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

S. Nelson, E. Ashley, M. Wheeler, 2021, medRxiv.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, Undiagnosed Diseases Network, 2019, Genetics in Medicine.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Euan A Ashley, Monte Westerfield, Joseph Loscalzo, 2018, The New England journal of medicine.

Ethnic Differences in Parental Perceptions of Genetic Testing for Deaf Infants

W. Grody, C. Palmer, L. Schimmenti, 2008, Journal of Genetic Counseling.

Genetic linkage and association between chromosome 1q and working memory function in schizophrenia

Leena Peltonen, Tyrone D. Cannon, Matti Huttunen, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session

C. Palmer, Patrick Boudreault, Emily E. Enns, 2010, Journal of Genetic Counseling.

Psychiatric Disorders in Clinical Genetics I: Addressing Family Histories of Psychiatric Illness

C. Palmer, H. Peay, J. Austin, 2008, Journal of Genetic Counseling.

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

Emily K. Mis, S. Nelson, W. Ji, 2021, American journal of medical genetics. Part A.

A multivariate approach to affected‐sib‐pair analysis using highly dense molecular maps

J. A. Woodward, S. Smalley, C. Palmer, 1997, Genetic epidemiology.

A general statistical model for detecting complex-trait loci by using affected relative pairs in a genome search.

J. A. Woodward, S. Smalley, C. Palmer, 1996, American journal of human genetics.

Bilingual Cancer Genetic Education Modules for the Deaf Community: Development and Evaluation of the Online Video Material

J. Sinsheimer, C. Palmer, V. Venne, 2018, Journal of Genetic Counseling.

Bilingual approach to online cancer genetics education for Deaf American Sign Language users produces greater knowledge and confidence than English text only: A randomized study.

J. Sinsheimer, C. Palmer, V. Venne, 2017, Disability and health journal.

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice

Emily G. Kelley, J. Sinsheimer, C. Palmer, 2020, Journal of genetic counseling.

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.

Infant hearing loss and connexin testing in a diverse population

W. Grody, C. Palmer, B. Crandall, 2008, Genetics in Medicine.

Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) process

W. Grody, C. Palmer, B. Crandall, 2004, Genetics in Medicine.

Detection of Intergenerational Genetic Effects with Application to HLA-B Matching as a Risk Factor for Schizophrenia

J. Sinsheimer, E. Sobel, C. Palmer, 2011, Human Heredity.

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Rebecca C. Spillmann, S. Hooper, V. Shashi, 2019, Clinical genetics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

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

Risk perception: Another look at the 'white male' effect

C. Palmer, 2003 .

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

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.

HLA-B maternal-fetal genotype matching increases risk of schizophrenia.

J. Lonnqvist, L. Peltonen, J. Sinsheimer, 2006, American journal of human genetics.

Sharing GJB2/GJB6 Genetic Test Information with Family Members

W. Grody, C. Palmer, T. Blase, 2007, Journal of Genetic Counseling.

Novel NUDT2 variant causes intellectual disability and polyneuropathy

S. Nelson, R. Person, J. Martinez-Agosto, 2020, Annals of clinical and translational neurology.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling

D. L. Doyle, K. Ormond, E. Petty, 2016, Journal of Genetic Counseling.

Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.

C. Palmer, L. Schimmenti, Ariadna Martínez, 2003 .

Commingling analysis of memory performance in elderly men

S. Smalley, G. Swan, C. Palmer, 1994, Genetic epidemiology.

Prelingual siblings of children with GJB2 hearing loss: issues to consider.

W. Grody, C. Palmer, L. Schimmenti, 2005, Archives of otolaryngology--head & neck surgery.

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Heidi L Rehm, Michelle Fox, Daryl A Scott, 2014, Genetics in Medicine.

Deaf Community and Genetics

Steven D. Emery, A. Middleton, C. Palmer, 2013 .

Molecular Diagnostic Evaluation of Deaf and Hard-of-Hearing Individuals

C. Palmer, L. Schimmenti, 2010 .

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

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Allowing for Missing Data at Highly Polymorphic Genes when Testing for Maternal, Offspring and Maternal-Fetal Genotype Incompatibility Effects

J. Sinsheimer, C. Palmer, Hsin-ju Hsieh, 2006, Human Heredity.

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.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

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.

Effect of Pre-test Genetic Counseling for Deaf Adults on Knowledge of Genetic Testing

J. Sinsheimer, C. Palmer, Patrick Boudreault, 2012, Journal of Genetic Counseling.

A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.

C. Francks, S. Nelson, A. Monaco, 2002, American journal of human genetics.

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

Emily G. Kelley, Ellen F. Macnamara, K. Schoch, 2019, Journal of genetic counseling.

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Rebecca C. Spillmann, Undiagnosed Diseases Network, S. Hooper, 2018, Journal of Genetic Counseling.

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.

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing

Jean M. Davidson, Ellen F. Macnamara, Rebecca C. Spillmann, 2019, Journal of genetic counseling.

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

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

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, S. Nelson, 2019, 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.

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

Joshua L. Deignan, J. Sinsheimer, W. Grody, 2013, Journal of Genetic Counseling.

A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard‐of‐hearing infants

W. Grody, C. Palmer, L. Schimmenti, 2009, American journal of medical genetics. Part A.

Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child

C. Palmer, Jin Zhou, Jason T Lueddeke, 2009, 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.

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

J. Sinsheimer, C. Palmer, Patrick Boudreault, 2014, PloS one.

Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study.

J. Sinsheimer, W. Grody, C. Palmer, 2010, Journal of deaf studies and deaf education.

Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness

C. Palmer, L. Schimmenti, Ariadna Martínez, 2003, 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.

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

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

Modeling maternal‐offspring gene‐gene interactions: the extended‐MFG test

Kenneth Lange, Janet S Sinsheimer, K. Lange, 2010, Genetic epidemiology.

Evidence for Maternal-Fetal Genotype Incompatibility as a Risk Factor for Schizophrenia

C. Palmer, 2010, Journal of biomedicine & biotechnology.

Effect of Rhesus D incompatibility on schizophrenia depends on offspring sex

J. Lonnqvist, L. Peltonen, J. Sinsheimer, 2008, Schizophrenia Research.

The v‐MFG test: investigating maternal, offspring and maternal‐fetal genetic incompatibility effects on disease and viability

Paul Wordsworth, M. Brown, J. Sinsheimer, 2006, Genetic epidemiology.

RHD maternal–fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order

Peter Kraft, Leena Peltonen, Jouko Lönnqvist, 2004, European Journal of Human Genetics.

Detecting genotype combinations that increase risk for disease: Maternal‐Fetal genotype incompatibility test

Janet S Sinsheimer, J. Sinsheimer, C. Palmer, 2003, Genetic epidemiology.

RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility.

T. Paunio, L. Peltonen, J. Sinsheimer, 2002, American journal of human genetics.

Incorporating Serotypes into Family Based Association Studies Using the MFG Test

T. Paunio, L. Peltonen, J. Sinsheimer, 2006, Annals of human genetics.

Evidence synthesis and guideline development in genomic medicine: current status and future prospects

Marc S. Williams, M. Relling, T. Klein, 2014, Genetics in Medicine.

Assessing Deaf Awareness Training: Knowledge and Attitudes of Recent Genetic Counseling Graduates

C. Palmer, G. Schneider, H. Nagakura, 2015, Journal of Genetic Counseling.

Using the maternal-fetal genotype incompatibility test to assess non-inherited maternal HLA-DRB1 antigen coding alleles as rheumatoid arthritis risk factors

M. Brown, J. Sinsheimer, C. Palmer, 2007, BMC proceedings.

An exact maternal‐fetal genotype incompatibility (MFG) test

J. Sinsheimer, C. Palmer, S. Minassian, 2005, Genetic epidemiology.

Psychiatric Disorders in Clinical Genetics II: Individualizing Recurrence Risks

C. Palmer, H. Peay, J. Austin, 2008, Journal of Genetic Counseling.

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.

Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community

J. Sinsheimer, C. Palmer, Yoko Kobayashi, 2013, BMC Medical Research Methodology.

Next Generation Genetic Counseling: Introduction to the Special Issue

C. Palmer, M. Roche, 2014, Journal of Genetic Counseling.

Risk perception and ethnicity

C. Palmer, J. Woodward, Lisa K. Carlstrom, 2001 .

Evaluating the Simplified Conjoint Expected Risk Model: Comparing the Use of Objective and Subjective Information

Palmer, Carlstrom, Woodward, 2000, Risk analysis : an official publication of the Society for Risk Analysis.

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.

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Jeremy D. Woods, S. Nelson, J. Martinez-Agosto, 2020, Neuropathology : official journal of the Japanese Society of Neuropathology.

Evaluating the Impact of Genetic Counseling and Testing with Signal Detection Methods

D. Hadley, C. Palmer, 2005, Journal of Genetic Counseling.

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.

Risk perception: an empirical study of the relationship between worldview and the risk construct.

C. Palmer, C G Palmer, Christina G.S. Palmer, 1996, Risk analysis : an official publication of the Society for Risk Analysis.

Publishing a Master’s Thesis: A Guide for Novice Authors

Robert G. Resta, C. Palmer, T. Blase, 2010, Journal of Genetic Counseling.

Dissecting prenatal, postnatal, and inherited effects: ART and design

K. Lange, J. Sinsheimer, C. Palmer, 2011, Genetic epidemiology.

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.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

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.

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.

Alternative option labeling impacts decision‐making in noninvasive prenatal screening

B. Zikmund‐Fisher, E. Petty, C. Palmer, 2019, Journal of genetic counseling.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Joshua L. Deignan, S. Nelson, W. Grody, 2014, JAMA.

Modeling maternal‐offspring gene‐gene interactions: the extended‐MFG test

K. Lange, J. Sinsheimer, C. Palmer, 2010, Genetic epidemiology.

On the exact convolution of discrete random variables

J. Arthur Woodward, Christina G.S. Palmer, C. Palmer, 1997 .

Publishing a Master’s Thesis: A Guide for Novice Authors

C. Palmer, T. Blase, R. Resta, 2010, Journal of Genetic Counseling.