James T. Bennett

发表

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum

A. Innes, J. Bennett, J. Mah, 2020, American journal of medical genetics. Part A.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Jeroen A. A. Demmers, R. Hevner, C. Keene, 2019, American journal of human genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

D. Deyle, J. Bennett, E. Conboy, 2018 .

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

T. Yuen, Y. Le Bouc, F. Tixier, 2017, Genetics in Medicine.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

D. Segal, J. Lipton, M. Sahin, 2020, Human molecular genetics.

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

S. Mccarroll, N. Kamitaki, J. Mulliken, 2015, The Journal of pediatrics.

Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

C. Pritchard, K. Tsuchiya, G. Mirzaa, 2018, American journal of medical genetics. Part A.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Emily H Turner, T. Walsh, D. Nickerson, 2013, American journal of human genetics.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

K. Gripp, W. Dobyns, K. Aldinger, 2016, American journal of medical genetics. Part A.

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing

K. Dipple, J. Bennett, G. Deutsch, 2019, American journal of medical genetics. Part A.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

H. Mefford, J. N. Dines, Christina Lam, 2020, The Journal of pediatrics.

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

W. Dobyns, R. Bly, J. Perkins, 2019, JCI insight.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Clinical and genetic characterization of AP4B1‐associated SPG47

W. Chung, M. Sahin, B. Lanpher, 2018, American journal of medical genetics. Part A.

Primary targeted medical therapy for management of bilateral head and neck lymphatic malformations in infants.

R. Bly, A. Geddis, T. Wenger, 2022, International journal of pediatric otorhinolaryngology.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

E. Mercan, R. Bly, T. Wenger, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Somatic activating BRAF variants cause isolated lymphatic malformations

R. Bly, V. Cheng, E. Rudzinski, 2021, medRxiv.

Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.

W. Dobyns, R. Bly, J. Perkins, 2021, International journal of pediatric otorhinolaryngology.

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

W. Dobyns, G. Mirzaa, R. Bly, 2020, Genetics in Medicine.

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

W. Dobyns, G. Mirzaa, R. Bly, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Molecular Genetics and Vascular Anomalies

W. Dobyns, J. Perkins, James T. Bennett, 2018 .

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.

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Min Zhang, V. Vasta, Peter M Gerrits, 2015, Molecular genetics and metabolism.

Clinical molecular diagnosis of Wilson disease.

S. Hahn, James T. Bennett, 2011, Seminars in liver disease.

Development of the Health Index (HI) Statistical Equation as an Alternative Clinical Parameter to the Body Mass Index in the Prediction of Body Fat Percentage

U. Khalid, P. Hardigan, J. Mcconnell, 2009 .

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.

Sarah E. Sheppard, C. Amlie-Lefond, J. Perkins, 2021, Cold Spring Harbor molecular case studies.

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Yonit A. Addissie, H. Mefford, W. Chung, 2017, Journal of Medical Genetics.

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

I. Glass, H. M. Byers, James T. Bennett, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

G. Carvill, H. Mefford, W. Chung, 2014, Journal of Medical Genetics.

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

M. Bamshad, P. Byers, A. Stergachis, 2023, Annals of clinical and translational neurology.

A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate‐pair sequencing

Danny E. Miller, Audrey E Squire, James T. Bennett, 2019, American journal of medical genetics. Part A.

An exceptional family with three consecutive generations affected by Wilson disease.

P. Swanson, K. Schwarz, J. Bennett, 2013, JIMD reports.

Whole exome sequencing identi fi es de novo mutations in GATA 6 associated with congenital diaphragmatic hernia

G. Carvill, H. Mefford, W. Chung, 2013 .

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

Response to Hamosh et al.

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

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Amanda S Freed, Sarah V. Clowes Candadai, M. Sikes, 2019, Journal of genetic counseling.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

Clinical and Genetic Characterization of AP 4 B 1-associated SPG 47

W. Chung, J. Hirst, C. Ryan, 2017 .