A. McConkie-Rosell

发表

Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

A. McConkie-Rosell, A. K. Iafolla, 1993, Journal of Genetic Counseling.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

S. Ellard, K. Muthusamy, R. Møller, 2022, medRxiv.

Men with an FMR1 premutation and their health education needs

M. Walsh, S. Sherman, A. McConkie-Rosell, 2021, Journal of genetic counseling.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Julie R. Jones, Allyn McConkie-Rosell, Wendy K. Chung, 2016, Cold Spring Harbor molecular case studies.

The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis

Q. K. Tan, Carolyn E. Pizoli, J. Juusola, 2017, Cold Spring Harbor molecular case studies.

Arithmetic difficulties in females with the fragile X premutation

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2006, American journal of medical genetics. Part A.

Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

Yong-hui Jiang, A. McConkie-Rosell, Lara J. Duffney, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Process in Genetic Counseling: Considerations for Children and Their Families

Julianne M. O’Daniel, A. McConkie-Rosell, 2010 .

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

J. V. Van Hove, S. Kahler, P. Kishnani, 1995, American journal of medical genetics.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

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.

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.

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

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

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

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.

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.

Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

R. Bennett, B. Finucane, A. Archibald, 2012, 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.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Elizabeth L. Fieg, F. Charron, G. Rouleau, 2019, American journal of human genetics.

Genetic Counseling—Stress, Coping, and the Empowerment Perspective

A. McConkie-Rosell, J. Sullivan, 1999, Journal of Genetic Counseling.

Instructions to Contributors

A. McConkie-Rosell, 1973, Computer Music Journal.

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

G. Spiridigliozzi, T. Iafolla, A. McConkie-Rosell, 1997, American journal of medical genetics.

Living with genetic risk: Effect on adolescent self‐concept

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

S. Warren, G. Spiridigliozzi, A. McConkie-Rosell, 1996, American journal of medical genetics.

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

T. Vulliamy, N. Pontikos, Meredith Wilson, 2022, American journal of human genetics.

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

M. Friez, M. McDonald, M. May, 2021, Cold Spring Harbor molecular case studies.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Mild cystic fibrosis in a consanguineous family.

M. Knowles, S. Kahler, A. McConkie-Rosell, 1989, Annals of internal medicine.

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

Sufen Chiu, D. Hessl, L. Nelson, 2007, Journal of Genetic Counseling.

Recommendations from Multi-disciplinary Focus Groups

Sufen Chiu, D. Hessl, L. Nelson, 2007 .

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1998, American journal of human genetics.

Glycogen Storage Disease Type Ia in Two Littermate Maltese Puppies

M. Wells, Yuan-Tsong Chen, E. Howerth, 1995, Veterinary pathology.

VATER and hydrocephalus: distinct syndrome?

Y. T. Chen, A. McConkie-Rosell, A. K. Iafolla, 1991, American journal of medical genetics.

Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

J. Haines, C. Mathew, J. Halperin, 1988, Nature.

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.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

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.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, American journal of human genetics.

Practical considerations in the clinical application of whole‐exome sequencing

D. Goldstein, V. Shashi, K. Schoch, 2016, Clinical genetics.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Allyn McConkie-Rosell, Kelly Schoch, Vandana Shashi, 2013, Genetics in Medicine.

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

A. Need, V. Shashi, K. Schoch, 2013, 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.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

L. Reinholdt, M. McDonald, M. Lemmon, 2018, Journal of Human Genetics.

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.

E. Buckley, T. Dryja, J. Little, 1989, The New England journal of medicine.

The FMR1 premutation and reproduction.

C. Welt, L. Nelson, R. Hagerman, 2007, Fertility and sterility.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Fryns syndrome survivors and neurologic outcome.

G. Spiridigliozzi, J. V. Van Hove, S. Kahler, 1995, American journal of medical 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.

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

R. Bennett, B. Finucane, A. McConkie-Rosell, 2005, Journal of Genetic Counseling.

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Yuan-Tsong Chen, J. Liu, J. V. Van Hove, 1995, American journal of human genetics.

Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

G. Spiridigliozzi, A. McConkie-Rosell, E. Heise, 2009, Journal of Genetic Counseling.

“Family Matters”: A Conceptual Framework for Genetic Testing in Children

G. Spiridigliozzi, A. McConkie-Rosell, 2004, Journal of Genetic Counseling.

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.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

L. Reinholdt, M. McDonald, M. Lemmon, 2018, Journal of Human Genetics.

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.

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

M. Cuccaro, G. Spiridigliozzi, D. Dawson, 2010, Journal of intellectual disability research : JIDR.

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.

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

R. Bennett, A. McConkie-Rosell, L. Gane, 2000, Journal of Genetic Counseling.

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

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

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

Rebecca C. Spillmann, Q. K. Tan, A. Need, 2018, Genetics in Medicine.

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

W. Brown, G. Spiridigliozzi, A. McConkie-Rosell, 1993, American journal of human genetics.

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.

M. Pericak-Vance, M. Knowles, M. Speer, 1989, Annals of internal medicine.

Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention.

M. Keshavan, S. Eack, V. Shashi, 2015, Journal of intellectual disability research : JIDR.

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

D. Piccoli, P. Kishnani, B. Brown, 1996, Journal of Inherited Metabolic Disease.

Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

A. McConkie-Rosell, E. Heise, Jacqueline M. Del Giorno, 2011, Journal of Genetic Counseling.

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

B. Solomon, M. McDonald, R. Schnur, 2021, Genetics in Medicine.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

J. V. Van Hove, S. Kahler, Y. T. Chen, 1992, American journal of medical genetics.

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.

Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Rebecca C. Spillmann, Q. K. Tan, S. Hooper, 2021, Journal of genetic counseling.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Rebecca C. Spillmann, D. Goldstein, D. Wechsler, 2017, Genetics in Medicine.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, V. Shashi, K. Schoch, 2020, Genetics in Medicine.

Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2001, American journal of medical genetics.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

The case of the gray optic disc!

M. Brodsky, E. Buckley, A. McConkie-Rosell, 1989, Survey of ophthalmology.

Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate

Yuan-Tsong Chen, H. Kay, A. McConkie-Rosell, 1992, Prenatal diagnosis.

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.

Carrier testing in fragile X syndrome: effect on self-concept.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2000, American journal of medical genetics.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Q. K. Tan, D. Goldstein, V. Shashi, 2020, Genetics in Medicine.

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.

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Rebecca C. Spillmann, S. Hooper, V. Shashi, 2023, Journal of genetic counseling.

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.

Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.

A. McConkie-Rosell, S. Wake, A. Cronister, 1995, American journal of medical genetics.

Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling

M. Keshavan, S. Hooper, V. Shashi, 2010, Journal of Genetic Counseling.

Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X

W. Brown, W. Kaufmann, D. Skinner, 2012, Pediatrics.

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

B. Devellis, A. McConkie-Rosell, 2000, Journal of Genetic Counseling.

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.

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

M. McDonald, G. Spiridigliozzi, T. Adayev, 2023, Clinical case reports.

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.

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.

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

G. Spiridigliozzi, A. McConkie-Rosell, E. Heise, 2012, Journal of Genetic Counseling.

Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X Acog—american Academy of Obstetrics and Gynecology Cf—cystic Fibrosis Fmr1—fragile X Mental Retardation 1 Fmrp—fragile X Mental Retardation Protei

W. Brown, D. Skinner, F. Tassone, 2012 .

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 1999, American journal of medical genetics.

When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families

G. Spiridigliozzi, A. McConkie-Rosell, Deborah V. Dawson, 2009, American journal of medical genetics. Part A.

Carrier testing in fragile X syndrome: when to tell and test.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2002, American journal of medical genetics.

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.

Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.

A. McConkie-Rosell, J. Heßling, P. Huffman, 1993, Biochemistry and molecular biology international.

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.

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.

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.

V. Shashi, M. McDonald, N. Stong, 2020, Epileptic disorders : international epilepsy journal with videotape.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

R. Bennett, B. Finucane, A. Archibald, 2012, 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.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

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.

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.