D. Stevenson

发表

Double inactivation of NF1 in tibial pseudarthrosis.

J. Carey, L. Messiaen, D. Viskochil, 2006, American journal of human genetics.

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1

D. Viskochil, D. Stevenson, Talia M Muram-Zborovski, 2010, American journal of medical genetics. Part A.

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

P. Bayrak-Toydemir, D. Stevenson, K. Whitehead, 2015, Front. Genet..

Arteriovenous Malformations—Current Understanding of the Pathogenesis with Implications for Treatment

Serena Y Tan, G. Steinberg, D. Stevenson, 2021, International journal of molecular sciences.

Effects of a plyometric training program for 3 children with neurofibromatosis type 1.

C. Salzberg, D. Stevenson, Barbara A. Johnson, 2012, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

Costello syndrome: Clinical phenotype, genotype, and management guidelines

D. Schwartz, K. Gripp, W. Dobyns, 2019, American journal of medical genetics. Part A.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Familial Predisposition to Developmental Dysplasia of the Hip

D. Viskochil, D. Stevenson, R. Kerber, 2009, Journal of pediatric orthopedics.

RASA1-Related Disorders

P. Bayrak-Toydemir, D. Stevenson, 2016 .

PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.

A. Reiss, D. Stevenson, T. Green, 2018, Cerebral cortex.

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip

B. MacWilliams, D. Viskochil, D. Stevenson, 2015, Journal of pediatric orthopedics.

REiNS: Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2.

Michael Fisher, A. Muzikansky, D. Stevenson, 2021, Neurology.

Reliability of HandheldDynamometry toMeasure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2

Michael Fisher, A. Muzikansky, D. Stevenson, 2022 .

Neurofibromin (Nf1) is required for skeletal muscle development.

P. Robinson, S. Mundlos, C. Rödelsperger, 2011, Human molecular genetics.

Peripheral muscle weakness in RASopathies

J. Carey, D. Viskochil, D. Stevenson, 2012, Muscle & nerve.

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics

Lisa J. Martin, R. Hopkin, D. Viskochil, 2013, American journal of medical genetics. Part A.

Bone mineral density in children and adolescents with neurofibromatosis type 1.

J. Carey, D. Viskochil, D. Stevenson, 2007, The Journal of pediatrics.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

S. Mundlos, A. Crawford, J. Carey, 2009, American journal of medical genetics. Part A.

Neurofibromatosis type 1 is a genetic skeletal disorder

J. Carey, D. Viskochil, D. Stevenson, 2007, American journal of medical genetics. Part A.

Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care

K. Dent, D. Viskochil, D. Stevenson, 2015, American journal of medical genetics. Part A.

Contribution of malformations and genetic disorders to mortality in a children's hospital

J. Carey, D. Stevenson, 2004, American journal of medical genetics. Part A.

Dietary intervention rescues myopathy associated with neurofibromatosis type 1

Emily R Vasiljevski, U. Roessner, D. Stevenson, 2018, Human molecular genetics.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

K. Gripp, D. Viskochil, D. Stevenson, 2015, American journal of medical genetics. Part A.

Decreased bone mineral density in Costello syndrome.

M. Tartaglia, D. Stevenson, C. Leoni, 2014, Molecular genetics and metabolism.

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

R. Tenconi, B. Korf, J. Carey, 1999, American journal of medical genetics.

Dystrophic Spinal Deformities in a Neurofibromatosis Type 1 Murine Model

K. Mohammad, D. Stevenson, T. Guise, 2015, PloS one.

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

T. Druley, N. Warrington, Jingqin Luo, 2015, Cancer research.

Gastric Rupture and Necrosis in Prader-Willi Syndrome

D. Stevenson, M. Butler, S. Cassidy, 2007, Journal of pediatric gastroenterology and nutrition.

Neurofibromin in Skeletal Development

D. Stevenson, M. Kolanczyk, Mateusz Kolanczyk, 2015 .

Pediatric 25-hydroxyvitamin D concentrationsin neurofibromatosis type 1

J. Carey, D. Viskochil, D. Stevenson, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

Association of twinning and maternal age with major structural birth defects in Utah, 1999 to 2008.

D. Stevenson, M. Feldkamp, Renee A. Rider, 2013, Birth defects research. Part A, Clinical and molecular teratology.

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

P. Bayrak-Toydemir, D. Stevenson, Whitney L Wooderchak-Donahue, 2016, American journal of medical genetics. Part A.

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Michael F. Wangler, J. Rosenfeld, H. Mefford, 2020, Molecular genetics & genomic medicine.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Multiple increased osteoclast functions in individuals with neurofibromatosis type 1

J. Carey, Menggang Yu, D. Viskochil, 2011, American journal of medical genetics. Part A.

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

B. Korf, K. Nathanson, D. Stevenson, 2018, Genetics in Medicine.

Cardiac transplantation in children with Noonan syndrome

A. Lin, D. Stevenson, Teresa M. Lee, 2019, Pediatric transplantation.

A new distal arthrogryposis syndrome characterized by plantar flexion contractures

M. Bamshad, D. Stevenson, K. Swoboda, 2006, American journal of medical genetics. Part A.

Analysis of skeletal dysplasias in the Utah population

J. Carey, D. Stevenson, M. Feldkamp, 2012, American journal of medical genetics. Part A.

Evidence of Increased Bone Resorption in Neurofibromatosis Type 1 Using Urinary Pyridinium Crosslink Analysis

J. Carey, D. Viskochil, D. Stevenson, 2008, Pediatric Research.

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice.

D. Viskochil, D. Stevenson, Steven D. Rhodes, 2013, Human molecular genetics.

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case–control study

D. Stevenson, H. McKay, L. Armstrong, 2013, American Journal of Medical Genetics. Part A.

"Efficacy of laparoscopic sleeve gastrectomy as a stand-alone technique for children with morbid obesity" and "BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits".

D. Stevenson, M. Butler, C. Cuffari, 2009, Obesity surgery.

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

E. Zackai, J. Clayton-Smith, D. Stevenson, 2004, American journal of medical genetics. Part A.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography.

J. Carey, D. Viskochil, D. Stevenson, 2005, Journal of musculoskeletal & neuronal interactions.

Predictive Value and Interrater Reliability of Radiographic Factors in Neurofibromatosis Patients With Dystrophic Scoliosis.

A. Crawford, D. Stevenson, C. Moertel, 2018, Spine deformity.

Predictive Value and Interrater Reliability of Radiographic Factors in Neurofibromatosis Patients With Dystrophic Scoliosis.

A. Crawford, D. Stevenson, C. Moertel, 2018, Spine deformity.

The genetics of vascular anomalies

D. Stevenson, J. F. Grimmer, A. Frigerio, 2012, Current opinion in otolaryngology & head and neck surgery.

C URRENT OPINION The genetics of vascular anomalies

D. Stevenson, J. F. Grimmer, A. Frigerio, 2012 .

Update from the 2013 international neurofibromatosis conference

Michael Fisher, A. Lloyd, A. Stemmer-Rachamimov, 2014, American journal of medical genetics. Part A.

Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities.

D. Wheatley, P. Helms, D. Stevenson, 1997, American journal of medical genetics.

Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia

J. Carey, T. Pysher, D. Stevenson, 2006, American journal of medical genetics. Part A.

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

S. South, S. Bleyl, A. Brothman, 2007, American journal of medical genetics. Part A.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Neuroﬁbromin (Nf1) is required for skeletal muscle development

T. Braun, P. Robinson, S. Mundlos, 2011 .

Orthopaedic Conditions in Ras/MAPK Related Disorders

D. Stevenson, K. Reinker, Ann H Tsung, 2011, Journal of pediatric orthopedics.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes

S. South, J. Kivlin, A. Rope, 2007, American journal of medical genetics. Part A.

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: New Frontiers

J. Kissil, S. Huson, F. McCormick, 2010, American journal of medical genetics. Part A.

The musculoskeletal phenotype of the RASopathies

D. Stevenson, Feng-Chun Yang, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

L1CAM whole gene deletion in a child with L1 syndrome

D. Stevenson, H. Hanson, E. Baldwin, 2014, American journal of medical genetics. Part A.

Neurofibromatosis Type 1: Molecular and Cellular Biology

D. Viskochil, D. Stevenson, 2009 .

Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network

W. McMahon, D. Viskochil, D. Stevenson, 2016, Journal of Autism and Developmental Disorders.

Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

J. Schiffman, D. Viskochil, D. Stevenson, 2018, Cancer epidemiology.

Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000–2014

J. Schiffman, D. Viskochil, D. Stevenson, 2018, Journal of Neuro-Oncology.

Mosaicism in Stickler syndrome.

R. Hoffman, P. Bayrak-Toydemir, H. Muntz, 2012, European journal of medical genetics.

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

B. Korf, E. I. Pierpont, B. Gelb, 2022, American journal of medical genetics. Part A.

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

E. Zackai, A. Lin, A. Santani, 2021, American journal of medical genetics. Part A.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1

A. Crawford, J. Carey, D. Viskochil, 2007, Genetics in Medicine.

Bone health in RASopathies

D. Stevenson, C. Leoni, Germana Viscogliosi, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

J. Carey, D. Stevenson, S. Coburn, 2008, The Journal of clinical endocrinology and metabolism.

Analysis of Radiographic Characteristics of Anterolateral Bowing of the Leg Before Fracture in Neurofibromatosis Type 1

J. Carey, D. Viskochil, D. Stevenson, 2009, Journal of pediatric orthopedics.

Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network

W. McMahon, D. Viskochil, D. Stevenson, 2016, Journal of autism and developmental disorders.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

P. Bayrak-Toydemir, D. Stevenson, J. McDonald, 2012, European journal of medical genetics.

Goltz syndrome and PORCN mosaicism

K. Dent, D. Stevenson, H. Hanson, 2014, International journal of dermatology.

A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

J. Carey, D. Stevenson, 2007, American journal of medical genetics. Part A.

NF1 Somatic Mutation in Dystrophic Scoliosis

J. Carey, R. Margraf, D. Viskochil, 2019, Journal of Molecular Neuroscience.

Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

S. Mundlos, P. Fratzl, G. Duda, 2014, PloS one.

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1

R. Margraf, D. Viskochil, D. Stevenson, 2015, Journal of Medical Genetics.

Neurofibromin Deficiency‐Associated Transcriptional Dysregulation Suggests a Novel Therapy for Tibial Pseudoarthrosis in NF1

C. Wise, R. Margraf, D. Viskochil, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

Alexander J. Makowski, J. Nyman, D. Stevenson, 2014, Nature Medicine.

Approaches to Treating NF1 Tibial Pseudarthrosis: Consensus From the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium

A. Crawford, D. Eastwood, D. Viskochil, 2013, Journal of pediatric orthopedics.

Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography.

J. Carey, D. Viskochil, D. Stevenson, 2009, Bone.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.

J. Nyman, D. Stevenson, Florent Elefteriou, 2011, Human molecular genetics.

MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus.

M. Loh, Michael Fisher, K. Walsh, 2022, Neuro-oncology.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2021, Genetics in Medicine.

Neurofibromatosis Type 1 and Other Syndromes of the Ras Pathway

J. Swensen, D. Stevenson, D. Viskochil, 2008 .

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Brendan D. O'Fallon, P. Bayrak-Toydemir, N. Morrell, 2013, American journal of human genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, G. Marth, A. Farrell, 2019, Genetics in Medicine.

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

T. Smolarek, L. Messiaen, D. Viskochil, 2017, American Journal of Medical Genetics. Part A.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

SPRED 1 Mutations in a Neurofibromatosis Clinic

D. Viskochil, D. Stevenson, David C. Dries, 2010, Journal of child neurology.

Neurofibromatosis Type 1 and Polydactyly

D. Stevenson, Ellyn Farrelly, A. D'Angelo, 2018, Case Reports in Orthopedic Research.

Molecular Basis of Bone Abnormalities in NF1

D. Stevenson, F. Elefteriou, Florent Elefteriou, 2012 .

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.

J. Carey, R. Margraf, D. Viskochil, 2017, The Journal of molecular diagnostics : JMD.

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype

P. Bayrak-Toydemir, N. Longo, A. Brothman, 2004, American journal of medical genetics. Part A.

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

E. Zackai, I. Krantz, N. Spinner, 2015, Genetics in Medicine.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Variable expression of neurofibromatosis 1 in monozygotic twins

Lisa J. Martin, D. Viskochil, D. Stevenson, 2011, American journal of medical genetics. Part A.

Skeletal Manifestations in NF1

D. Viskochil, D. Stevenson, 2020 .

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1.

John C Carey, B. MacWilliams, J. Carey, 2012, Human movement science.

Motor Proficiency in Children With Neurofibromatosis Type 1

B. MacWilliams, J. Carey, D. Viskochil, 2010, Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.

Contributing factors of mortality in Prader–Willi syndrome

V. Kimonis, D. Stevenson, M. Butler, 2019, American journal of medical genetics. Part A.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Michael Fisher, B. Korf, J. Kissil, 2014, American journal of medical genetics. Part A.

Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome

M. Bamshad, J. Carey, D. Stevenson, 2006, Pediatrics.

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

A. Patapoutian, Helen J Kim, P. Bayrak-Toydemir, 2015, Nature Communications.

Parental Attitudes, Beliefs, and Perceptions about Genetic Testing for FAP and Colorectal Cancer Surveillance in Minors

D. Stevenson, T. Tuohy, R. Burt, 2010, Journal of Genetic Counseling.

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

J. Swensen, J. Carey, M. Larsen, 2016, PLoS genetics.

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

D. Stevenson, Ellyn Farrelly, Wesley Y Ho, 2022, American journal of medical genetics. Part A.

Activity and participation in children with neurofibromatosis type 1.

D. Stevenson, X. Sheng, Barbara A. Johnson, 2015, Research in developmental disabilities.

Postural control in children with and without neurofibromatosis type 1.

B. MacWilliams, D. Stevenson, Barbara A. Johnson, 2014, Human movement science.

Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.

D. Viskochil, D. Stevenson, 2009, JAMA.

J. Carey, D. Stevenson, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Evaluation of the Reliability and Validity of the Crawford Classification of Congenital Tibial Dysplasia

J. Carey, D. Viskochil, D. Stevenson, 2007 .

The role of motor proficiency in bone health in genetic syndromes

D. Stevenson, 2011, Developmental medicine and child neurology.

Bone mineral density in children with neurofibromatosis type 1.

J. Carey, D. Viskochil, D. Stevenson, 2008, Journal of pediatric orthopedics.

Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1.

J. Carey, D. Viskochil, D. Stevenson, 2017, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

J. Carey, P. Bayrak-Toydemir, A. Brothman, 2004, The Journal of pediatrics.

Genetic Variants Associated with Port-Wine Stains

Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, David A. Stevenson, 2015, PloS one.

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

P. Bayrak-Toydemir, D. Stevenson, F. Blanco, 2011, Orphanet journal of rare diseases.

Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome

K. Gripp, D. Stevenson, C. Leoni, 2015, American journal of medical genetics. Part A.

Respiratory system involvement in Costello syndrome

L. Hudgins, M. Brennan, D. Stevenson, 2016, American journal of medical genetics. Part A.

Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI.

J. Steinberger, K. Ensrud, D. Viskochil, 2014, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy

M. Ruzhnikov, D. Stevenson, D. Rosenthal, 2017, American journal of medical genetics. Part A.

6q subtelomeric deletion: is there a recognizable syndrome?

J. Bale, K. Dent, J. Carey, 2004, Clinical dysmorphology.

Deaths due to choking in Prader–Willi syndrome

D. Stevenson, M. Butler, C. Clericuzio, 2007, American journal of medical genetics. Part A.

Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.

D. Stevenson, Okmi Choi, Lorna Tolentino, 2018, Pediatric Neurology.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

Communication disorders associated with neurofibromatosis type 1

Bruce L. Smith, S. Redmond, D. Viskochil, 2013 .

Are Some Randomized Clinical Trials Impossible?

D. Viskochil, D. Stevenson, B. Widemann, 2020, Journal of pediatric orthopedics.

A systematic review: plyometric training programs for young children.

C. Salzberg, D. Stevenson, Barbara A. Johnson, 2011, Journal of strength and conditioning research.

Gastrointestinal bleeding in infantile hemangioma: a complication of segmental, rather than multifocal, infantile hemangiomas.

K. Puttgen, D. Stevenson, D. Siegel, 2012, The Journal of pediatrics.

Total Hip Arthroplasty, Hip Osteoarthritis, Total Knee Arthroplasty, and Knee Osteoarthritis in Patients With Developmental Dysplasia of the Hip and Their Family Members: A Kinship Analysis Report

D. Viskochil, D. Stevenson, K. Carroll, 2012, Journal of pediatric orthopedics.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

Diane B. Zastrow, E. Ashley, M. Wheeler, 2019, American journal of medical genetics. Part A.

Candidate locus analysis for PHACE syndrome

H. Kayserili, P. Bayrak-Toydemir, D. Stevenson, 2012, American journal of medical genetics. Part A.

Speech–language characteristics of children with neurofibromatosis type 1

K. Chapman, D. Viskochil, D. Stevenson, 2010, American journal of medical genetics. Part A.

Hemangioma Is Associated with Atopic Disease

Grant M. Wood, Marc S. Williams, P. Bayrak-Toydemir, 2012, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

Karlyne M. Reilly, K. Walsh, B. Korf, 2016, American journal of medical genetics. Part A.

NALCN channelopathies

E. Jorgensen, P. Bayrak-Toydemir, D. Stevenson, 2016, Neurology.

Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia

A. Presson, D. Stevenson, K. Whitehead, 2018, The Laryngoscope.

Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences

D. Stevenson, P. Magoulas, Ellyn Farrelly, 2020, Journal of Pediatric Genetics.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

Capillary Malformation-Arteriovenous Malformation Syndrome

P. Bayrak-Toydemir, D. Stevenson, 1993 .

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1

J. Carey, D. Viskochil, D. Stevenson, 2013, American journal of medical genetics. Part A.

Pseudoaminopterin syndrome and trisomy 9

J. Opitz, D. Stevenson, J. King, 2004, American journal of medical genetics. Part A.

Screening children with neurofibromatosis type 1 for autism spectrum disorder

D. Viskochil, D. Stevenson, P. Carbone, 2014, American journal of medical genetics. Part A.

Hydranencephaly in an infant with vascular malformations.

B. Hart, D. Stevenson, C. Clericuzio, 2001, American journal of medical genetics.

Skeletal abnormalities in lysosomal storage diseases.

R. Steiner, D. Stevenson, 2013, Pediatric endocrinology reviews : PER.

Bone mineral density in children and adolescents with neurofibromatosis type 1.

J. Carey, D. Viskochil, D. Stevenson, 2007, The Journal of pediatrics.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

W. Foulkes, L. Messiaen, D. Stevenson, 2021, Genetics in Medicine.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

S. Shvartsman, J. Albeck, M. Therrien, 2018, American Journal of Medical Genetics. Part A.

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

R. Bollo, D. Stevenson, M. Walker, 2012, Journal of neurosurgery. Pediatrics.

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

B. Korf, K. Nathanson, D. Stevenson, 2018, Genetics in Medicine.

Promoting appropriate genetic testing: the impact of a combined test review and consultative service

Helio A. Costa, D. Stevenson, Carlos J. Suarez, 2017, Genetics in Medicine.

Bone resorption in syndromes of the Ras/MAPK pathway

Jeffrey E. Swensen, J. Swensen, J. Carey, 2011, Clinical genetics.

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1

J. Carey, D. Viskochil, D. Stevenson, 2013, American journal of medical genetics. Part A.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back

Alcino J. Silva, G. Nolan, A. Balmain, 2010, American journal of medical genetics. Part A.

Dural ectasia in neurofibromatosis Type 1

D. Viskochil, D. Stevenson, 2007 .

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics

Lisa J. Martin, R. Hopkin, D. Viskochil, 2013, American journal of medical genetics. Part A.

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1.

B. MacWilliams, J. Carey, D. Viskochil, 2012, Human movement science.

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

Karlyne M. Reilly, T. Druley, N. Warrington, 2015, Cancer research.

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

R. Bollo, D. Stevenson, M. Walker, 2012, Journal of neurosurgery. Pediatrics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, Gabor T. Marth, M. Hannibal, 2019, Genetics in Medicine.

The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis

A. Lloyd, A. Stemmer-Rachamimov, J. Kissil, 2017, American journal of medical genetics. Part A.

Title The path forward : 2015 International Children ' s Tumor Foundation conference on neurofibromatosis type 1 , type 2 , and schwannomatosis Permalink

A. Lloyd, A. Stemmer-Rachamimov, J. Kissil, 2017 .

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

P. Bayrak-Toydemir, D. Stevenson, C. Milla, 2016, American journal of medical genetics. Part A.

Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI.

D. Viskochil, D. Stevenson, P. Orchard, 2014, Journal of pediatric rehabilitation medicine.