Scholars@Duke
Allyn McConkie-Rosell

Allyn McConkie-Rosell

Professor in Pediatrics
Pediatrics, Medical Genetics
allyn.mcconkie@duke.edu
Box 103857 DUMC, Durham, NC 27710
Room 2081, Gsrbi, 595 LaSalle Street, Durham, NC 27710

Selected Publications

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

Journal Article Genet Med · September 2024 PURPOSE: We identified 2 individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestati ... Full text Link to item Cite

The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.

Journal Article J Genet Couns · April 1, 2024 Ultra rare disorders are being diagnosed at an unprecedented rate, due to genomic sequencing. These diagnoses are often a new gene association, for which little is known, and few share the diagnosis. For these diagnoses, we use the term emerging-ultrarare ... Full text Link to item Cite

The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.

Journal Article Clin Genet · January 2024 Genomic medicine has been transformed by next-generation sequencing (NGS), inclusive of exome sequencing (ES) and genome sequencing (GS). Currently, ES is offered widely in clinical settings, with a less prevalent alternative model consisting of hybrid pro ... Full text Link to item Cite

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

Journal Article Journal of genetic counseling · October 2023 Although genomic research offering next-generation sequencing (NGS) has increased the diagnoses of rare/ultra-rare disorders, populations experiencing health disparities infrequently participate in these studies. The factors underlying non-participation wo ... Full text Open Access Cite

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.

Journal Article Orphanet J Rare Dis · September 4, 2023 BACKGROUND: A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritab ... Full text Link to item Cite

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

Journal Article Clin Case Rep · June 2023 A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood. Although initial genetic findings helped make a correct fragile X syndrome (FXS) determina ... Full text Link to item Cite

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.

Journal Article Proc Natl Acad Sci U S A · May 23, 2023 Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin, plexin, transcr ... Full text Link to item Cite

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Journal Article Brain · April 19, 2023 Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they are abundant in myelin membranes. Serine palmitoyltransferase, the enzyme that catalyses the rate-limiting reaction o ... Full text Link to item Cite

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

Journal Article Neurology · February 7, 2023 BACKGROUND AND OBJECTIVES: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. METHODS: We screened 893 individuals with develo ... Full text Link to item Cite

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.

Journal Article Am J Hum Genet · August 4, 2022 Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variant ... Full text Link to item Cite

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

Journal Article J Genet Couns · February 2022 The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empo ... Full text Link to item Cite

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

Journal Article HGG Adv · January 13, 2022 Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctiv ... Full text Link to item Cite

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

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · October 2021 PurposeCACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. ... Full text Cite

Men with an FMR1 premutation and their health education needs.

Journal Article J Genet Couns · August 2021 Men who carry an FMR1 premutation are at-risk to develop a late-onset neurodegenerative disorder called fragile X-Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the firs ... Full text Link to item Cite

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

Journal Article Genet Med · August 2021 PURPOSE: Reports have questioned the dogma of exclusive maternal transmission of human mitochondrial DNA (mtDNA), including the recent report of an admixture of two mtDNA haplogroups in individuals from three multigeneration families. This was interpreted ... Full text Link to item Cite

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Journal Article Nat Genet · July 2021 SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral defi ... Full text Link to item Cite

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

Journal Article Cold Spring Harb Mol Case Stud · June 2021 Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIFM1 enc ... Full text Link to item Cite

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

Journal Article Sci Data · April 21, 2021 Every year individuals experience symptoms that remain undiagnosed by healthcare providers. In the United States, these rare diseases are defined as a condition that affects fewer than 200,000 individuals. However, there are an estimated 7000 rare diseases ... Full text Link to item Cite

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

Journal Article Genet Med · April 2021 PURPOSE: In this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu). METHODS: Following next-generation sequencing and clinical phenotyping, fun ... Full text Link to item Cite

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

Journal Article Genet Med · February 2021 PURPOSE: The NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advancing t ... Full text Link to item Cite

Germline AGO2 mutations impair RNA interference and human neurological development.

Journal Article Nat Commun · November 16, 2020 ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular function, th ... Full text Link to item Cite

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

Journal Article Genet Med · July 2020 PURPOSE: Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts; however, there is variability in transcript selection by laboratories. METHODS: We describe three ... Full text Link to item Cite

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

Journal Article Am J Hum Genet · June 4, 2020 SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neur ... Full text Link to item Cite

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

Journal Article Epileptic Disord · February 1, 2020 Mutations in ATP1A3 have been found to cause rapid-onset dystonia Parkinsonism, alternating hemiplegia of childhood, epileptic encephalopathy and other syndromes. We report a four-year, nine-month-old boy with episodes of frequent and recurrent status epil ... Full text Link to item Cite

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

Journal Article Clin Genet · December 2019 While genomic sequencing (ES/GS) has the potential to diagnose children with difficult to diagnose phenotypes, the goal should be not only a diagnosis, but also to empower parents to seek next steps for their children and to emotionally manage the outcome, ... Full text Link to item Cite

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

Journal Article Am J Hum Genet · October 3, 2019 Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with othe ... Full text Link to item Cite

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.

Journal Article Am J Med Genet A · October 2019 Histone Gene Cluster 1 Member E, HIST1H1E, encodes Histone H1.4, is one of a family of epigenetic regulator genes, acts as a linker histone protein, and is responsible for higher order chromatin structure. HIST1H1E syndrome (also known as Rahman syndrome, ... Full text Link to item Cite

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

Journal Article J Genet Couns · April 2019 The "diagnostic odyssey" is well known and described in genetic counseling literature. Studies addressing the psychological, emotional, and financial costs of not having a diagnosis have shown how it permeates the lives of patients and families. The Undiag ... Full text Link to item Cite

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Journal Article Genet Med · January 2019 PURPOSE: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10-15% of the ES negatives, further approaches are necessary to maximize diagno ... Full text Link to item Cite

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Journal Article J Hum Genet · December 2018 Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial dysfunction may work through a variety of mechanisms, from direct disruption of the electron transp ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

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

Journal Article J Genet Couns · September 2018 Featured Publication The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and families experiencing these stressors, higher levels of empowerment may be associated with better outc ... Full text Link to item Cite

Characteristics of undiagnosed diseases network applicants: implications for referring providers.

Journal Article BMC Health Serv Res · August 22, 2018 BACKGROUND: The majority of undiagnosed diseases manifest with objective findings that warrant further investigation. The Undiagnosed Diseases Network (UDN) receives applications from patients whose symptoms and signs have been intractable to diagnosis; ho ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

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

Journal Article J Genet Couns · August 2018 Featured Publication Little is known about the psychosocial profiles of parents who have a child with an undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases Network (UDN) evaluates individuals with intractable medical findings, with the objectiv ... Full text Link to item Cite

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

Journal Article Hum Mol Genet · July 15, 2018 The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. ... Full text Link to item Cite

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

Journal Article Am J Med Genet B Neuropsychiatr Genet · June 2018 Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basi ... Full text Link to item Cite

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

Journal Article Genet Med · April 2018 Featured Publication PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted sin ... Full text Open Access Link to item Cite

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

Journal Article Am J Hum Genet · March 1, 2018 ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each ... Full text Link to item Cite

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

Journal Article Cold Spring Harb Mol Case Stud · November 2017 Featured Publication GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome and lethal arthrogryposis with anterio ... Full text Link to item Cite

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Journal Article Genetics · September 2017 Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, a ... Full text Link to item Cite

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

Journal Article Clin Genet · August 2017 Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, p ... Full text Link to item Cite

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Journal Article Am J Hum Genet · June 1, 2017 One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on biological processes. Furthermore, there remains an unmet demand for an efficient survey of the wealth ... Full text Link to item Cite

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

Journal Article Orphanet J Rare Dis · April 17, 2017 Featured Publication BACKGROUND: Patients' stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expectation of recovery), chaos (suffering ... Full text Link to item Cite

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

Journal Article Am J Hum Genet · February 2, 2017 Featured Publication Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurode ... Full text Link to item Cite

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Journal Article Am J Hum Genet · January 5, 2017 Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that lo ... Full text Link to item Cite

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Journal Article Am J Hum Genet · October 6, 2016 The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 ... Full text Link to item Cite

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Journal Article J Genet Couns · October 2016 Featured Publication Due to the lack of empirical information on parental perceptions of primary results of whole exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 parents of children who had undergone WES. Perceptions explored during the i ... Full text Link to item Cite

Practical considerations in the clinical application of whole-exome sequencing.

Journal Article Clin Genet · February 2016 Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing. There are no publ ... Full text Link to item Cite

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

Journal Article Cold Spring Harb Mol Case Stud · January 2016 We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining ... Full text Open Access Link to item Cite

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

Journal Article J Intellect Disabil Res · October 2015 BACKGROUND: Children with chromosome 22q11.2 deletion syndrome (22q11DS) often have deficits in social cognition and social skills that contribute to poor adaptive functioning. These deficits may be of relevance to the later occurrence of serious psychiatr ... Full text Link to item Cite

Genetics of autism spectrum disorders: The opportunity and challenge in the genetics clinic

Chapter · January 1, 2015 The involvement of genetic etiology in autism spectrum disorders (ASDs) was first suggested from a twin study reported in 1970s. This initial observation has then been validated in many subsequent studies. The identification of single genes in syndromic AS ... Full text Cite

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

Journal Article Genet Med · February 2014 Featured Publication PURPOSE: The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and targeted genetic testing, within a general genetics clinic. These data are critically needed to develop clinically and economica ... Full text Link to item Cite

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Journal Article Hum Mutat · June 2013 Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastroin ... Full text Link to item Cite

Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

Journal Article J Genet Couns · December 2012 Featured Publication Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp clini ... Full text Link to item Cite

Newborn, carrier, and early childhood screening recommendations for fragile X.

Journal Article Pediatrics · December 2012 Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to ... Full text Link to item Cite

Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.

Journal Article J Genet Couns · February 2012 Featured Publication Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS ... Full text Link to item Cite

Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.

Journal Article J Genet Couns · February 2011 Featured Publication Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns ... Full text Link to item Cite

Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.

Journal Article J Genet Couns · October 2010 The purpose of this study is to examine the association between parental socio-economic status (SES) and childhood neurocognition and behavior in children with chromosome 22q11.2 deletion syndrome (22q11DS). Although undoubtedly, the deletion of genes in t ... Full text Link to item Cite

Goals, Process, and Content of Genetic Counseling: Applications to Children and their Families

Chapter · August 12, 2010 Featured Publication This book introduces readers to the study of how genes, singly and in combination with each other and the environment, affect health and behavior. It provides family-focused perspectives relating to genetic counseling and education. ... Cite

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

Journal Article J Intellect Disabil Res · July 2010 BACKGROUND: Current research suggests that depression and anxiety may be common problems in women with the fragile X (FMR1) premutation. METHODS: To learn more about this in a clinical setting, we asked 33 women with the FMR1 premutation and 20 women witho ... Full text Link to item Cite

Helping parents talk to their children about genetic diagnosis

Chapter · 2010 Featured Publication Psychology and Evidence-based Decision-making, School of Psychology, University of Sydney -- ... Cite

Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.

Journal Article J Genet Couns · August 2009 Featured Publication Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was ... Full text Link to item Cite

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

Journal Article Am J Med Genet A · June 2009 Featured Publication We report here on our findings from adolescent and young adult females (ages 14-25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a carrier for ... Full text Link to item Cite

Living with genetic risk: effect on adolescent self-concept.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2008 Featured Publication The purpose of this study is to describe the interplay of adolescent girls' and young womens' self-concept, coping behaviors, and adjustment associated with knowledge of genetic risk for fragile X syndrome. We will report here findings on self-concept. Usi ... Full text Link to item Cite

Editorial: The JOGC journey continues

Journal Article Journal of Genetic Counseling · February 1, 2008 Full text Cite

Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.

Journal Article J Genet Couns · October 2007 Featured Publication The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, th ... Full text Link to item Cite

The FMR1 premutation and reproduction.

Journal Article Fertil Steril · March 2007 OBJECTIVE: To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals wh ... Full text Link to item Cite

Beyond the diagnosis: The process of genetic counseling

Chapter · 2007 This collection provides a single resource that will help clinicians, pediatricians, neuropsychologists, educators, and others use the latest research to identify and treat a variety of genetic disorders as early as possible. ... Cite

Beyond the diagnosis: The process of genetic counseling

Chapter · 2007 This collection provides a single resource that will help clinicians, pediatricians, neuropsychologists, educators, and others use the latest research to identify and treat a variety of genetic disorders as early as possible. ... Cite

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Conference Fertility and Sterility · September 2006 Full text Cite

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Conference Fertility and Sterility · September 2006 Full text Cite

Arithmetic difficulties in females with the fragile X premutation.

Journal Article Am J Med Genet A · April 1, 2006 Featured Publication Females with the fragile X full mutation have been reported to have difficulty learning mathematics. Women with the fragile X premutation often give a history of mathematics difficulties in themselves especially with higher level math. In order to evaluate ... Full text Link to item Cite

Test Results: Communication and Counseling

Chapter · January 20, 2006 Featured Publication This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. ... ... Cite

Test Results: Communication and Counseling

Chapter · January 20, 2006 Featured Publication This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. ... ... Cite

Test Results: Communication and Counseling

Journal Article · January 4, 2006 Empathetic communication of test results to a patient is critical. Testing may be useless unless the resulting communication and counseling are effective. The goal is to ensure that the test information is appropriately enrolled in both the care of the pat ... Full text Cite

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.

Journal Article J Genet Couns · August 2005 Featured Publication These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2 ... Full text Link to item Cite

Editorial notes

Journal Article Journal of Genetic Counseling · June 1, 2004 Full text Cite

"Family matters": a conceptual framework for genetic testing in children.

Journal Article J Genet Couns · February 2004 Featured Publication Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrate ... Full text Link to item Cite

Editorial Notes.

Journal Article J Genet Couns · February 2003 Full text Link to item Cite

Editorial.

Journal Article J Genet Couns · August 2002 Full text Link to item Cite

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

Journal Article Am J Med Genet · June 1, 2002 Featured Publication This study explored age preferences about when to learn at-risk status and have carrier testing in women who were undergoing testing for fragile X. Forty-two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing a ... Full text Link to item Cite

Instructions to Contributors.

Journal Article J Genet Couns · April 2002 Full text Link to item Cite

Editorial Introduction.

Journal Article J Genet Couns · February 2002 Full text Link to item Cite

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

Journal Article Am J Med Genet · January 1, 2001 Featured Publication This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X mutation. It addresses 1) how upsetting the women perceived their carrier information to be, 2) how serious a problem they perceive fragile X syndrome to be, a ... Link to item Cite

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

Journal Article J Genet Couns · August 2000 Featured Publication Researchers and clinicians have suggested that learning one is a carrier for a genetic disorder has the potential to alter self-concept. Concerns about self-concept have influenced the development of policies regarding the availability of carrier testing f ... Full text Link to item Cite

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

Journal Article J Genet Couns · August 2000 The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is ... Full text Link to item Cite

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

Journal Article Am J Med Genet · June 19, 2000 Featured Publication The purpose of the study was to explore self-concept in women at risk for inheriting the fragile X mutation. Time 1 measures were obtained prior to carrier testing and Time 2 measures were collected approximately 5 months after learning carrier status. The ... Full text Link to item Cite

Genetic Counseling-Stress, Coping, and the Empowerment Perspective.

Journal Article J Genet Couns · December 1999 Featured Publication Historically one of the basic foundations of the genetic counseling process has been nondirectiveness; however, its definition and utility continues to be in question. There remains a need to develop genetic counseling interventions in order to qualify, qu ... Full text Link to item Cite

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.

Journal Article Prenat Diagn · September 1999 Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a m ... Full text Link to item Cite

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

Journal Article Am J Med Genet · January 29, 1999 Featured Publication Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragile X Conference in Portland, Oregon (1996), were asked to complete a survey assessing parental level of concern about carrier testing in children at risk for fr ... Link to item Cite

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

Journal Article Am J Hum Genet · October 1998 Glycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatase, an enzymatic system present in the endoplasmic reticulum that plays a crucial role in blood glucose homeostasis. Unlike GSD type Ia, types Ib and Ic are not due ... Full text Link to item Cite

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.

Journal Article Prenat Diagn · January 1998 Deficiency of glycogen debranching enzyme gene (AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult and have limited ability to ... Full text Link to item Cite

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

Journal Article Am J Med Genet · January 10, 1997 Featured Publication This study surveyed obligate carriers of the fragile X syndrome fra(X) to ascertain opinions and attitudes regarding carrier testing. Female carriers of fra(X) syndrome were recruited during their visits to the Fragile X Clinic at Duke University Medical C ... Full text Link to item Cite

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.

Journal Article Am J Med Genet · August 9, 1996 Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limita ... Full text Link to item Cite

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

Journal Article J Inherit Metab Dis · 1996 The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 yea ... Full text Link to item Cite

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

Journal Article Am J Med Genet · December 4, 1995 Featured Publication Fragile X Syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of inform ... Full text Link to item Cite

Fryns syndrome survivors and neurologic outcome.

Journal Article Am J Med Genet · November 20, 1995 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns ... Full text Link to item Cite

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

Journal Article Am J Med Genet · October 23, 1995 Most congenital cutaneous hemangiomas are a sporadic occurrence. Hemangiomas have been found in association with coarctation of the aorta and a right aortic arch. A separate association has been noted of midline ventral defects with hemangiomas. We report ... Full text Link to item Cite

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

Journal Article Am J Hum Genet · October 1995 Diagnosis of glycogen storage disease (GSD) type 1a currently is established by demonstrating the lack of glucose-6-phosphatase (G6Pase) activity in the patient's biopsied liver specimen. Recent cloning of the G6Pase gene and identification of mutations wi ... Link to item Cite

Glycogen storage disease type Ia in two littermate Maltese puppies.

Journal Article Vet Pathol · September 1995 Glycogen storage disease type Ia (GSD-Ia) (von Gierke's disease) was identified in two 47-day-old littermate Maltese puppies. The puppies were presented for necropsy with a history of failure to thrive, mental depression, and poor body condition. Gross fin ... Full text Link to item Cite

Educating extended family members about the inheritance of the fragile X syndrome

Journal Article Developmental Brain Dysfunction · 1995 Featured Publication How to share information about the inheritance of the fragile X syndrome with other family members is a concern to many families. This paper describes a workshop from the 4th International Fragile X Conference in June 1994, which addressed this issue. Work ... Cite

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

Journal Article Am J Hum Genet · October 1993 Featured Publication DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. F ... Link to item Cite

Prenatal diagnosis of Sanfilippo syndrome type A by early amniocentesis.

Journal Article Biochem Mol Biol Int · April 1993 Early amniocentesis performed at 13 weeks gestation was utilized to obtain amniocytes for culture. Sonicates of cultured amniocytes were used to measure heparin sulfamidase activity for assessment of the status of an at risk pregnancy for Sanfilippo syndro ... Link to item Cite

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

Journal Article J Genet Couns · March 1993 Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic c ... Full text Link to item Cite

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

Journal Article Am J Med Genet · September 1, 1992 We present a boy with a rare unbalanced translocation 46,XY,-15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (t ... Full text Link to item Cite

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

Journal Article Prenat Diagn · March 1992 Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8-12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonst ... Full text Link to item Cite

VATER and hydrocephalus: distinct syndrome?

Journal Article Am J Med Genet · January 1991 VACTERL association with hydrocephalus is rarely reported, and is thought to be an autosomal recessive uniformly lethal disorder distinct from the VATER association. We have observed 3 patients in a 12-month period with hydrocephalus due to aqueductal sten ... Full text Link to item Cite

Prenatal diagnosis of metabolic disease.

Journal Article Clin Perinatol · December 1990 Early detection of metabolic disease affords the possibility of the best possible outcome for affected infants. Prenatal diagnostic capabilities allow for the institution of prenatal therapy, when indicated, and postnatal optimal management. Special formul ... Link to item Cite

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

Journal Article N Engl J Med · December 21, 1989 Mutations of the retinoblastoma gene, most of which cannot be detected by conventional Southern blotting, are known to cause both the nonhereditary and hereditary forms of retinoblastoma and have been implicated in the development of other cancers. Nonhere ... Full text Link to item Cite

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

Journal Article Ann Intern Med · November 15, 1989 Cystic fibrosis is the commonest autosomal recessive genetic disorder among northern Europeans and their descendants. Recently, investigators have mapped the gene for cystic fibrosis to chromosome 7. We report the results of DNA linkage analysis in a consa ... Full text Link to item Cite

Mild cystic fibrosis in a consanguineous family.

Journal Article Ann Intern Med · April 15, 1989 Cystic fibrosis is an autosomal recessive genetic disorder linked to chromosome 7q in all families studied. Expression of the disease varies, but the genetic basis for clinical heterogeneity is unknown. We describe an extended consanguineous family with pu ... Full text Link to item Cite

The case of the gray optic disc!

Journal Article Surv Ophthalmol · 1989 A child with interstitial deletion of chromosome 17, right optic nerve hypoplasia, and impaired speech had bilateral congenital optic disc pigmentation, giving the appearance of gray optic discs. This appearance did not change over a period of two-and-a-ha ... Full text Link to item Cite

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.

Journal Article Nature · March 17, 1988 Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder with inherited susceptibility to various forms of cancer, including hemangioblastomas of the central nervous system, phaeochromocytomas, pancreatic malignancies, and renal cell carcinomas. R ... Full text Link to item Cite