J. Jasien

发表

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, bioRxiv.

Aging and Bone Health in Individuals with Developmental Disabilities

Stuart Maudsley, B. Martin, J. Jasien, 2012, International journal of endocrinology.

The effects of aging on the BTBR mouse model of autism spectrum disorder

Stuart Maudsley, B. Martin, J. Jasien, 2014, Front. Aging Neurosci..

Co‐occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II

B. Chicoine, G. Capone, S. Santoro, 2020, American journal of medical genetics. Part A.

Resident Dyads Providing Transition Care to Adolescents and Young Adults With Chronic Illnesses and Neurodevelopmental Disabilities.

Richard J. Chung, J. Jasien, Gary R Maslow, 2017, Journal of graduate medical education.

Hippocampal Transcriptomic and Proteomic Alterations in the BTBR Mouse Model of Autism Spectrum Disorder

W. Wood, K. Becker, J. Crawley, 2015, Front. Physiol..

A Systematic Review of Cognitive Function in Adults with Spina Bifida

J. Jasien, S. Sachdeva, Michaela Kolarova, 2021, Developmental neurorehabilitation.

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

V. Shashi, M. McDonald, J. Jasien, 2021, Epilepsy & Behavior.

Neurogenic bowel treatments and continence outcomes in children and adults with myelomeningocele.

B. Dicianno, J. Jasien, Tiebin Liu, 2020, Journal of pediatric rehabilitation medicine.

Signs of Aspiration in Adults with Down Syndrome: Prevalence as Determined Using A WaterSwallowing Screen and Caregiver Report

J. Jasien, 2016 .

Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.

J. Jasien, M. Mikati, A. Landstrom, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Motor function and safety after allogeneic cord blood and cord tissue‐derived mesenchymal stromal cells in cerebral palsy: An open‐label, randomized trial

Jessica M Sun, J. Troy, J. Kurtzberg, 2022, Developmental medicine and child neurology.

Neonatal neuroimaging findings in congenital myotonic dystrophy

M. Johnston, F. Northington, A. Poretti, 2014, Journal of Perinatology.

Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

E. Heinzen, A. Arzimanoglou, J. Jasien, 2021, Brain communications.

OP-BRCM210129 1..17

E. Heinzen, Maria Papadopoulou, A. Arzimanoglou, 2021 .

Social impairments in alternating hemiplegia of childhood

G. Dawson, J. Jasien, M. Mikati, 2020, Developmental medicine and child neurology.

Motor function domains in alternating hemiplegia of childhood

Kara L. Lardinois, J. Jasien, M. Mikati, 2017, Developmental medicine and child neurology.

Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.

J. Jasien, M. Mikati, Gary R Maslow, 2020, Pediatric neurology.

Opportunities, barriers, and recommendations in down syndrome research

Raymond D. Kent, J. Lawrence, S. Warren, 2021, Translational science of rare diseases.

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.

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Murim Choi, V. Shashi, K. Schoch, 2019, Human mutation.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature

B. Chicoine, G. Capone, S. Santoro, 2020, American journal of medical genetics. Part A.

Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2021, Human molecular genetics.

Immunotherapy in selected patients with Down syndrome disintegrative disorder

Sarah J. Hart, J. Jasien, P. Kishnani, 2018, Developmental medicine and child neurology.

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood

J. Jasien, M. Mikati, M. Bonner, 2018, Developmental medicine and child neurology.

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.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

D-DEMO, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations (P4.157)

R. Schiffmann, E. Heinzen, V. Shashi, 2017 .

Cognitive and motor function in adults with spina bifida myelomeningocele: a pilot study

J. Jasien, M. Mikati, Michaela Kolarova, 2020, Child's Nervous System.

Satisfaction With Life, Coping, and Spirituality Among Urban Families

J. Jasien, B. Doolittle, M. Courtney, 2015, Journal of primary care & community health.

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.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2022, Human molecular genetics.

Human Mutation

A. Spurdle, V. Shashi, K. Schoch, 2019 .