B. Solomon

发表

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Ellen F. Macnamara, C. Toro, W. Gahl, 2016, Genetics in Medicine.

Adaptive significance of right hemisphere activation in aphasic language comprehension

Jed A. Meltzer, A. Braun, J. Meltzer, 2013, Neuropsychologia.

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

B. Solomon, F. Porter, N. Sinaii, 2022, Orphanet Journal of Rare Diseases.

A randomised, placebo-controlled trial of dutasteride in spinal and bulbar muscular atrophy

Ryder, N. Jeffries, T. Lehky, 2011 .

Survivorship Issues in Adult Patients With Histiocytic Neoplasms.

W. Gahl, B. Solomon, Marcus Y. Chen, 2021, Journal of the National Comprehensive Cancer Network : JNCCN.

Muenke Syndrome ( FGFR 3-Related Craniosynostosis ) : Expansion of the Phenotype and Review of the Literature

E. Zackai, C. Brewer, B. Solomon, 2007 .

Rehabilitation interventions in the multi-disciplinary management of patients with sclerotic graft-versus-host disease of the skin and fascia.

B. Solomon, R. Rosenstein, S. Mitchell, 2020, Archives of physical medicine and rehabilitation.

Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

W. Pavan, M. Patterson, C. Brewer, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mucosal morbidity in patients with epidermolysis bullosa acquisita.

B. Solomon, K. Yancey, R. Summers, 1999, Archives of dermatology.

Phenotype and course of Hutchinson-Gilford progeria syndrome.

F. Collins, E. Nabel, L. Gerber, 2008, The New England journal of medicine.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Janice S. Lee, M. Leppert, F. Collins, 2017, Nature Communications.

Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

E. Zackai, C. Brewer, B. Solomon, 2007, American journal of medical genetics. Part A.

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment

S. Holland, J. Puck, Joie Davis, 2004, American journal of medical genetics. Part A.

Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.

B. Solomon, G. Lopez, E. Sidransky, 2019, Molecular genetics and metabolism.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Kimberly A. Walters, W. Pavan, C. Vite, 2017, The Lancet.

A Prospective Evaluation of Swallowing and Speech in Patients with Neurofibromatosis Type 2

J. Smirniotopoulos, J. Heiss, B. Solomon, 2019, Journal of Neurological Surgery Part B: Skull Base.

Natural History of Speech and Swallowing Function in Neurofibromatosis 2 Includes Hypoglossal Dysfunction

J. Heiss, B. Solomon, Tianxia Wu, 2017, Skull Base.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.

J. Bonifacino, Shaheen N. Khan, S. Riazuddin, 2015, American journal of human genetics.

Neurofilament Light Chain in Cerebrospinal Fluid as a Novel Biomarker in Evaluating Both Clinical Severity and Therapeutic Response in Niemann-Pick Disease, Type C1.

B. Solomon, E. Berry-Kravis, B. Bielekova, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

The neurogenetics of mucolipidosis type IV

R. Schiffmann, N. Patronas, B. Solomon, 2002, Neurology.

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Yonit A. Addissie, J. Hahn, M. Delgado, 2017, Genetics in Medicine.

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1.

B. Solomon, F. Porter, N. Sinaii, 2020, JAMA neurology.

Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

W. Pavan, M. Patterson, C. Brewer, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.