Author details

Full Name

Franco Stanzial

Affiliation

Genetic Counseling Service - Regional Hospital of Bolzano

ORCID

Career Start Year

1993

Papers

H Index

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
36434256	Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.	Eur J Hum Genet	2023
38076278	Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <i>SMC1A</i> gene mutation.	Epilepsy Behav Rep	2023
36788019	Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.	J Med Genet	2023
34010585	Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.	Disabil Rehabil	2022
35861666	Natural history of KBG syndrome in a large European cohort.	Hum Mol Genet	2022
36361881	Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in <i>SZT2</i> Gene.	Int J Mol Sci	2022
36259739	TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.	Hum Mutat	2022
35332618	Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.	Hum Mutat	2022
33988253	Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.	Clin Genet	2021
31316167	A clinical scoring system for congenital contractural arachnodactyly.	Genet Med	2020
32467589	Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.	J Hum Genet	2020
32400065	Characterization of intellectual disability and autism comorbidity through gene panel sequencing.	Hum Mutat	2020
32196989	Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.	Mol Genet Genomic Med	2020
30818181	Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.	Seizure	2019
31209962	Characterization of intellectual disability and autism comorbidity through gene panel sequencing.	Hum Mutat	2019
30564185	Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.	Front Neurol	2018
27390349	Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome.	Clin Cancer Res	2017
28159970	The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.	Invest Ophthalmol Vis Sci	2017
28422132	Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.	Eur J Hum Genet	2017
28583319	"Spot diagnosis" or "spot the diagnosis"?	J Neurol Sci	2017
25407461	Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?	Hum Genet	2015
26033879	Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.	Birth Defects Res A Clin Mol Teratol	2015
26029869	Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.	Nat Genet	2015
26026149	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.	Elife	2015
24096233	SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.	Gene	2014
24819041	Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.	Am J Med Genet A	2014
24176978	SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.	Brain	2013
22486197	An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.	Clin Genet	2012
22848519	Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.	PLoS One	2012
21387466	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.	Hum Mutat	2011
21964829	Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?	Am J Med Genet A	2011
21679407	Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.	Orphanet J Rare Dis	2011
19206169	Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.	Hum Mutat	2009
19694018	Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.	Hum Genet	2009
19764032	Expanding CEP290 mutational spectrum in ciliopathies.	Am J Med Genet A	2009
12872266	Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].	Hum Mutat	2003
7654444	Cancer registration: a feasibility study in northern Italy. The Collaborative Group of Pathologists for Cancer Registration in Verona.	Eur J Cancer	1994
7974796	pTNM stage distribution in breast cancer: a population-based survey in northern Italy. Collaborative Group of Pathologists for Cancer Registration in Verona.	Tumori	1994
8223589	Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.	Eur J Biochem	1993

1 - 39 of 39

Luisa Mackenroth

Institut fur Klinische Genetik, Technische Universitat Dresden

Career Start Year 2012

Number of shared co-authors 0

Saumya Shekhar Jamuar

Pediatric Academic Clinical Programme, Duke-NUS Medical School

Career Start Year 2010

Number of shared co-authors 4

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 9

Johanna Christina Czeschik

Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen

Career Start Year 2008

Number of shared co-authors 3

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 2

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 12

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 11

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 20

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 6

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 8

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 12

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 25

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 11

Saskia Biskup

Center for Genomics and Transcriptomics (CeGaT)

Career Start Year 2004

Number of shared co-authors 13

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 13

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 26

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 14

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 10

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 14

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 5

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 24

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 13

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 14

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 14

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 8

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 31

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 19

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 17

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 15

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 16

row(s) 1 - 30 of 30

Enrico Bertini

IRCCS Bambino Gesu Children's Research Hospital

Co-authored papers 7

Stefano D'Arrigo

Fondazione IRCCS Istituto Neurologico Carlo Besta

Co-authored papers 6

Renato Borgatti

University of Pavia

Co-authored papers 5

Enza Maria Valente

University of Pavia

Co-authored papers 5

Maria Cristina Aspromonte

University of Padova

Co-authored papers 4

Romina Romaniello

IRCCS Mondino Foundation

Co-authored papers 4

Bruno Dallapiccola

Co-authored papers 4

Maria Cristina Digilio

Co-authored papers 3

Tommaso Mazza

Fondazione IRCCS Casa Sollievo della Sofferenza,71013

Co-authored papers 3

Marco Tartaglia

Co-authored papers 3

Isabella Moroni

Fondazione IRCCS Istituto Neurologico Carlo Besta

Co-authored papers 3

Eugen Boltshauser

Children's University Hospital

Co-authored papers 3

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 2

Matloob Azam

Wah Medical College

Co-authored papers 2

Peter P Pramstaller

Co-authored papers 2

Bruce D Gelb

Icahn School of Medicine at Mount Sinai

Co-authored papers 2

Laura Mazzanti

Co-authored papers 2

Marco Carraro

Hematology and Clinical Immunology Unit, University of Padova

Co-authored papers 2

Viviana Cordeddu

Co-authored papers 2

Francesca Romana Lepri

Co-authored papers 2

Maja Steinlin

Children's University Hospital, Bern University Hospital, University of Bern

Co-authored papers 2

Ariana Kariminejad

Clinical Genetics Deaprtment

Co-authored papers 2

William B Dobyns

University of Minnesota

Co-authored papers 2

Petter Str??mme

University of Oslo

Co-authored papers 2

Giovanni Battista Ferrero

Co-authored papers 2

Elide Miccinilli

Fondazione IRCCS Casa Sollievo della Sofferenza

Co-authored papers 2

Cesare Rossi

Co-authored papers 2

Marta Romani

Sapienza University of Rome

Co-authored papers 2

Susanne Roosing

Radboud University Medical Center

Co-authored papers 2

Joseph G Gleeson

University of California

Co-authored papers 2

1 - 30

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