Francesco Vetrini

None None 7 collaborations

Erin Conboy 7 collaborations

Kayla Treat 7 collaborations

Yaping Yang 6 collaborations

Victoria M Pratt 5 collaborations

Fan Xia 5 collaborations

Christine M Eng 5 collaborations

James R Lupski 5 collaborations

Pengfei Liu 5 collaborations

Daryl A Scott 4 collaborations

Richard A Gibbs 4 collaborations

Weimin Bi 4 collaborations

Hongzheng Dai 3 collaborations

Bo Yuan 3 collaborations

Jill A Rosenfeld 3 collaborations

Ty C Lynnes 3 collaborations

Lili Mantcheva 3 collaborations

Wenmiao Zhu 3 collaborations

Joseph T Alaimo 3 collaborations

Lihadh Al-Gazali 3 collaborations

Jennifer E Posey 3 collaborations

Seema Lalani 3 collaborations

Weimin He 3 collaborations

David D Weaver 3 collaborations

Khurram Liaqat 3 collaborations

Amy M Breman 3 collaborations

Dihong Zhou 2 collaborations

Isabelle Thiffault 2 collaborations

John Herriges 2 collaborations

Deborah Requesens 2 collaborations

Brett H Graham 2 collaborations

Shane McKee 2 collaborations

Mohnish Suri 2 collaborations

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Kimberly Margaret Nugent 2 collaborations

Elizabeth Roeder 2 collaborations

Rebecca O Littlejohn 2 collaborations

Sue Holder 2 collaborations

Brett Graham 2 collaborations

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Matthew Pastore 2 collaborations

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Aisha Al Shamsi 2 collaborations

Elizabeth A Fanning 2 collaborations

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Orly Elpeleg 2 collaborations

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Ed Blair 2 collaborations

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Abdul Nasir 2 collaborations

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Donna Muzny 2 collaborations

Arthur L Beaudet 2 collaborations

John A Phillips 2 collaborations

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Anika Lindsey 2 collaborations

Gary A Silverman 2 collaborations

Stephen C Pak 2 collaborations

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Scott Barish 1 collaboration

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Anne Chun-Hui Tsai 1 collaboration

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Jean P Pfotenhauer 1 collaboration

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Claudia G Gonzaga-Jauregui 1 collaboration

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Mark H Lipson 1 collaboration

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Qian Liu 1 collaboration

Edwina Popek 1 collaboration

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Przemyslaw Szafranski 1 collaboration

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Paweł Stankiewicz 1 collaboration

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Bo Zhang 1 collaboration

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Ty Lynnes 1 collaboration

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Rong Mao 1 collaboration

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Ha T Pham 1 collaboration

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Affiliations

Publications (21)

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project.

Characterization of a novel deep-intronic variant in

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Familial Autonomic Ganglionopathy Caused by Rare

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Réseau de co-auteurs