P. Trapane

发表

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Martin W. Breuss, A. Pagnamenta, P. Bauer, 2020, European Journal of Human Genetics.

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of medical genetics. Part A.

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.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

W. O'Brien, S. Cederbaum, M. Gambello, 2008, American journal of medical genetics. Part A.

Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1

J. Tonsgard, P. Trapane, K. Janke, 2013, Journal of the International Neuropsychological Society.

Hypermobility Syndromes in Heavy Menstrual Bleeding

P. Trapane, G. Moyer, P. Huguelet, 2020 .

Mutation analysis of B3GALTL in Peters Plus syndrome

J. Hoffman, O. Abdul-Rahman, Aneal Khan, 2008, American journal of medical genetics. Part A.

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

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

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.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.

J. Norton, A. Kurian, K. Kingham, 2007, Cancer genetics and cytogenetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

B. Darbro, P. Trapane, O. Shchelochkov, 2021, Clinical case reports.

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

H. Dietz, O. Başpınar, M. Earing, 2010, European Journal of Human Genetics.

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

R. Ganetzky, I. Helbig, A. Gropman, 2022, Molecular genetics and metabolism reports.

Congenital nephrotic syndrome in an infant with ALG1‐congenital disorder of glycosylation

H. Freeze, P. Brophy, J. Brumbaugh, 2016, Pediatrics international : official journal of the Japan Pediatric Society.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Relations Between Executive Functioning and Academic Performance in Adolescents with Neurofibromatosis-1

P. Trapane, K. Janke, B. Klein-Tasman, 2014, Journal of Developmental and Physical Disabilities.

Relations Between Executive Functioning and Academic Performance in Adolescents with Neurofibromatosis-1

P. Trapane, K. Janke, B. Klein-Tasman, 2014, Journal of Developmental and Physical Disabilities.

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

B. Konkle, J. Di Paola, K. Neeves, 2023, Expert review of hematology.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

W. O'Brien, S. Cederbaum, M. Gambello, 2009, Human Genetics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .