F. Brancati

发表

Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm

A. Singleton, M. Hallett, A. Berardelli, 2007, Movement disorders : official journal of the Movement Disorder Society.

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

A. Berardelli, D. Martino, G. Defazio, 2003, Movement disorders : official journal of the Movement Disorder Society.

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

A. Visel, J. Opitz, D. Horn, 2015, Cell.

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

G. Remuzzi, D. Taruscio, F. Brancati, 2020, Italian Journal of Pediatrics.

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.

F. Brancati, B. Dallapiccola, G. Novelli, 2001, Genetic testing.

Formation of new chromatin domains determines pathogenicity of genomic duplications

S. Mundlos, M. Spielmann, M. Vingron, 2016, Nature.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

F. Garaci, F. Brancati, B. Dallapiccola, 2010, American journal of medical genetics. Part A.

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

F. Brancati, G. Novelli, F. Sangiuolo, 2017, European Journal of Human Genetics.

Park6‐linked parkinsonism occurs in several european families

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Annals of neurology.

PARK6 is a common cause of familial parkinsonism

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Neurological Sciences.

Bupropion abates dopamine agonist‐mediated compulsive behaviors in Parkinson's disease

A. Pisani, P. Stanzione, F. Brancati, 2011, Movement disorders : official journal of the Movement Disorder Society.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

E. Bertini, S. Schurmans, H. Kayserili, 2009, Nature Genetics.

The syndrome of deafness‐dystonia: Clinical and genetic heterogeneity

I. Parees, M. Edwards, K. Bhatia, 2013, Movement disorders : official journal of the Movement Disorder Society.

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes

M. T. Pellecchia, A. Bentivoglio, A. Albanese, 2008, Journal of Neurology.

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

R. Tenconi, A. Federico, F. Brancati, 2007, Journal of Human Genetics.

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

F. Brancati, G. Cestra, F. Angelucci, 2018, Human mutation.

Isolated Hemidystonia Associated with NMDa Receptor Antibodies Introduction

A. Pisani, P. Stanzione, F. Garaci, 2011 .

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

M. Baumgartner, C. Marco-Marín, V. Rubio, 2012, Journal of Inherited Metabolic Disease.

Genotypes and phenotypes of Joubert syndrome and related disorders.

F. Brancati, E. Valente, B. Dallapiccola, 2008, European journal of medical genetics.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain

F. Brancati, M. Castori, S. Morlino, 2014, American journal of medical genetics. Part A.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

S. Scherer, C. Marshall, L. Federici, 2015, Acta neuropathologica communications.

Putaminal, but not nigral alterations, characterize hemiparkinsonism‐hemiatrophy syndrome: A case report

A. Pisani, P. Stanzione, F. Garaci, 2011, Movement disorders : official journal of the Movement Disorder Society.

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

F. Brancati, E. Valente, B. Dallapiccola, 2007, Human mutation.

Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity

A. Berardelli, A. Bentivoglio, C. Shaw-Smith, 2003, Movement disorders : official journal of the Movement Disorder Society.

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

A. Ciccodicola, F. Brancati, E. Valente, 2007, Investigative ophthalmology & visual science.

A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B

S. Mundlos, F. Brancati, B. Dallapiccola, 2007, American journal of medical genetics. Part A.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

E. Bertini, R. Hennekam, H. Kayserili, 2007, American journal of human genetics.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

F. Brancati, B. Dallapiccola, R. Mingarelli, 2005, American journal of medical genetics. Part A.

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

M. Copetti, F. Brancati, L. Micale, 2019, Human molecular genetics.

Antenatal presentation of the oculo‐auriculo‐vertebral spectrum (OAVS)

F. Brancati, B. Dallapiccola, R. Mingarelli, 2006, American journal of medical genetics. Part A.

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33–q34

E. Bertini, F. Brancati, E. Valente, 2002, Annals of neurology.

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

F. Brancati, G. Novelli, U. Kornak, 2012, American journal of medical genetics. Part A.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

P. Kaplan, S. Mundlos, J. Clayton-Smith, 2008, Nature Genetics.

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

E. Bertini, F. Brancati, E. Valente, 2006, Annals of neurology.

Joubert Syndrome and related disorders

F. Brancati, E. Valente, B. Dallapiccola, 2010, Orphanet journal of rare diseases.

Review Syndrome and related disorders

F. Brancati, E. Valente, B. Dallapiccola, 2010 .

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

E. Bertini, R. Borgatti, R. Hennekam, 2012, Orphanet Journal of Rare Diseases.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F. Brancati, B. Dallapiccola, A. Pizzuti, 2003, Journal of neurology, neurosurgery, and psychiatry.

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry

F. Brancati, E. Lamantea, R. Sorge, 2017, PloS one.

Quantitative ultrasound at the phalanges in a cohort of monozygotic twins of different ages

F. Brancati, L. Sinibaldi, F. Terlizzi, 2015, La radiologia medica.

Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis

T. Kuiken, F. Brancati, T. Geijtenbeek, 2020, PLoS pathogens.

Measles skin rash: infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to keratinocytes in the epidermis

T. Kuiken, F. Brancati, T. Geijtenbeek, 2019, bioRxiv.

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Clinical and laboratory phenotype associated with the aspirin‐like defect

F. Brancati, B. Rocca, A. Dragani, 2010, British journal of haematology.

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

F. Brancati, G. Novelli, F. Sangiuolo, 2019, Genes.

Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1

F. Brancati, G. Novelli, F. Sangiuolo, 2016, Journal of Endocrinological Investigation.

Atypical Progeroid Syndrome with Familial Partial Lipodystrophy due to A Missense c.1045 C > T LMNA Mutation: A Case Report and an Innovative Therapeutic Approach

F. Brancati, A. Mari, S. Frontoni, 2022, Archives of Clinical and Medical Case Reports.

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype

F. Brancati, C. Moretti, A. Nardone, 2017, Cytogenetic and Genome Research.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical Genetics.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

D. Taruscio, F. Brancati, A. Ferlini, 2018, European Journal of Human Genetics.

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

P. Robinson, S. Mundlos, M. Spielmann, 2012, American journal of human genetics.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

D. Taruscio, P. Perri, F. Brancati, 2019, Front. Genet..

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations

J. Mulliken, M. Vikkula, D. Chitayat, 2008, Human mutation.

A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

J. Féher, F. Brancati, E. Valente, 2004, Journal of Medical Genetics.

Expanding CEP290 mutational spectrum in ciliopathies

E. Bertini, F. Brancati, E. Valente, 2009, American journal of medical genetics. Part A.

Reticulate Vascular Lesions and a Large Head

F. Brancati, B. Dallapiccola, R. Mingarelli, 2007, Pediatric dermatology.

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

S. Scherer, C. Marshall, L. Federici, 2015, Acta neuropathologica communications.

Primary Focal Hyperhidrosis in a New Family Not Linked to Known Loci

A. Albanese, F. Brancati, E. Valente, 2012, Dermatology.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

J. Tolmie, M. Digilio, F. Brancati, 2015, Circulation. Cardiovascular genetics.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

S. Mundlos, F. Garaci, Mahim Jain, 2011, American journal of human genetics.

Craniosynostosis is a feature of CHD7‐related CHARGE syndrome

F. Brancati, L. Salviati, M. Castori, 2021, American journal of medical genetics. Part A.

AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis

Madeline A. Lancaster, A. D. den Hollander, F. Cremers, 2010, Nature Genetics.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

E. Bertini, F. Brancati, E. Valente, 2009, Human mutation.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

E. Zackai, C. Stevens, F. Brancati, 2013, American journal of medical genetics. Part A.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

Multiplex ligation‐dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

F. Brancati, E. Valente, B. Dallapiccola, 2007, Movement disorders : official journal of the Movement Disorder Society.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

B. Hallgrímsson, E. Bonora, F. Brancati, 2021, bioRxiv.

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

F. Brancati, A. Nardone, F. del Bufalo, 2014, Italian Journal of Pediatrics.

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

F. Brancati, L. Persani, M. Bonomi, 2021, Frontiers in Endocrinology.

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Mustafa Tekin, Bruno Dallapiccola, Juan I. Young, 2011, American journal of human genetics.

Recurrent triploidy of maternal origin

F. Brancati, B. Dallapiccola, R. Mingarelli, 2003, European Journal of Human Genetics.

KBG syndrome in a cohort of Italian patients

M. Digilio, F. Brancati, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

F. Garaci, M. Digilio, F. Brancati, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Orphanet Journal of Rare Diseases BioMed Central Review KBG syndrome

F. Brancati, B. Dallapiccola, A. Sarkozy, 2006 .

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses.

J. Jimenez-Almazan, C. Rubio, L. Rienzi, 2023, Human reproduction.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

S. Bianca, R. Tenconi, T. Mazza, 2021, International journal of molecular sciences.

A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.

John F. Robinson, R. Hegele, F. Brancati, 2014, The Canadian journal of cardiology.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

F. Brancati, L. Persani, I. Ferrari, 2020, Human mutation.

Orphanet Journal of Rare Diseases Kbg Syndrome Disease Name and Synonyms Definition and Diagnostic Criteria

F. Brancati, B. Dallapiccola, A. Sarkozy, 2022 .

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

F. Brancati, B. Dallapiccola, R. Mingarelli, 2009, European journal of medical genetics.

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

F. Garaci, F. Brancati, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin

R. Hegele, F. Brancati, G. Novelli, 2014, Muscle & nerve.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

I. van der Made, E. Creemers, W. Newman, 2019, The Journal of clinical investigation.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Edward S. Miller, T. Blundell, M. van der Burg, 2015, American journal of human genetics.

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical genetics.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

F. Brancati, B. Dallapiccola, G. Cestra, 2014, The Journal of investigative dermatology.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

A. Rossi, G. De Michele, A. Filla, 2004, Neurology.

Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome

F. Brancati, T. Mineo, F. Sellitri, 2015, Case Reports in Surgery.

Clinical utility gene card for: Joubert Syndrome - update 2013

F. Brancati, E. Valente, B. Dallapiccola, 2013, European Journal of Human Genetics.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

Ablepharon‐macrostomia syndrome in a 46‐year‐old woman

F. Brancati, B. Dallapiccola, R. Mingarelli, 2004, American journal of medical genetics. Part A.

Joubert Syndrome and related disorders

Enza Maria Valente, Bruno Dallapiccola, F. Brancati, 2010, Orphanet journal of rare diseases.

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so‐called Young‐Simpson syndrome

C. Romano, F. Brancati, B. Dallapiccola, 2009, Clinical genetics.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Madeline A. Lancaster, E. Bertini, M. Lancaster, 2006, Nature Genetics.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Colin A. Johnson, S. Nelson, B. Merriman, 2011, Nature Genetics.

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, Brain communications.

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, medRxiv.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Colin A. Johnson, K. Cibulskis, S. Gabriel, 2010, Nature Genetics.

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

E. Bertini, F. Brancati, E. Valente, 2003, American journal of human genetics.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Colin A. Johnson, S. Gabriel, E. Bertini, 2013, European Journal of Human Genetics.

Clinical utility gene card for: Joubert syndrome

F. Brancati, E. Valente, B. Dallapiccola, 2011, European Journal of Human Genetics.

Craniosynostosis‐microphthalmia syndrome belongs to the spectrum of BCOR‐related disorders

Rachel L. Taylor, F. Brancati, U. Kornak, 2020, Clinical genetics.

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: a 10-year single center experience.

L. Mannucci, F. Brancati, G. Novelli, 2019, Clinica chimica acta; international journal of clinical chemistry.

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

S. Mundlos, F. Brancati, B. Dallapiccola, 2010, American journal of human genetics.

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

R. Hennekam, C. Stevens, F. Brancati, 2017, Molecular Syndromology.

Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

R. Carrozzo, C. Gellera, B. Borroni, 2020, Journal of clinical medicine.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene

F. Garaci, R. Floris, F. Brancati, 2015, The neuroradiology journal.

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

D. De Grandis, F. Brancati, A. Ferlini, 2010, Clinical genetics.

p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis

F. Brancati, C. Missero, A. Costanzo, 2015, Experimental dermatology.

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

F. Brancati, B. Dallapiccola, R. Mingarelli, 2002, American journal of medical genetics.

Kinematic and Diffusion Tensor Imaging Definition of Familial Marcus Gunn Jaw-Winking Synkinesis

Nicola Toschi, Alfredo Berardelli, Francesco Garaci, 2012, PloS one.

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.

F. Brancati, B. Dallapiccola, I. Bottillo, 2010, Clinical and experimental rheumatology.

The Expanding Joubert Spectrum

F. Brancati, B. Dallapiccola, E. Valente, 2007, The neuroradiology journal.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

F. Brancati, F. Boaretto, R. Ippoliti, 2023, European Journal of Human Genetics.

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

F. Garaci, D. Hunter, S. Stasheff, 2016, American journal of medical genetics. Part A.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

S. Mundlos, R. Hennekam, T. Mazza, 2018, American journal of medical genetics. Part A.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

F. Benfenati, P. Striano, C. Depienne, 2021, Neurology.

An explainable model of host genetic interactions linked to COVID-19 severity

G. Parati, A. d’Arminio Monforte, F. Chiaromonte, 2021, Communications Biology.

Two families confirm Schöpf‐Schulz‐Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum

S. Heath, F. Brancati, S. Madonna, 2011, Clinical genetics.

Normal cognitive functions in joubert syndrome.

F. Brancati, E. Valente, B. Dallapiccola, 2009, Neuropediatrics.

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

S. Mundlos, M. Spielmann, M. Digilio, 2019, Journal of Medical Genetics.

Mutation screening of the DYT6/THAP1 gene in Italy

A. Bentivoglio, A. Albanese, F. Brancati, 2009, Movement disorders : official journal of the Movement Disorder Society.

Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

C. Frassoni, R. Spreafico, A. Vignoli, 2009, American journal of medical genetics. Part A.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

S. Bianca, M. Digilio, F. Brancati, 2021, Clinical genetics.

Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome

E. Bertini, M. Lancaster, F. Brancati, 2006 .

Diffusion Tensor Imaging in Joubert Syndrome

T. Loenneker, T. Huisman, F. Brancati, 2007, American Journal of Neuroradiology.

RESEARCH Diffusion Tensor Imaging in Joubert Syndrome

T. Loenneker, T. Huisman, F. Brancati, 2007 .

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

A family study on primary blepharospasm

A. Berardelli, D. Martino, G. Defazio, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

A. Singleton, M. Hallett, A. Crawley, 2009, Movement disorders : official journal of the Movement Disorder Society.

A novel family with an unusual early‐onset generalized dystonia

N. Sykes, A. Berardelli, F. Brancati, 2005, Movement disorders : official journal of the Movement Disorder Society.

Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia

A. Berardelli, G. Defazio, F. Brancati, 2002, Movement disorders : official journal of the Movement Disorder Society.

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

A. Berardelli, A. Albanese, G. Defazio, 2003, Journal of neurology, neurosurgery, and psychiatry.

Mutations of the β myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

F. Brancati, B. Dallapiccola, V. Caputo, 2003, Journal of medical genetics.

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

B. Borroni, F. Brancati, B. Bembi, 2016, Clinica chimica acta; international journal of clinical chemistry.

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

J. Gécz, C. Depienne, F. Zara, 2023, Epilepsia.

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.

A. Tormene, F. Brancati, E. Valente, 2005, Investigative Ophthalmology and Visual Science.

Absence of Correlation Between BMP-4 Polymorphism and Postmenopausal Osteoporosis in Italian Women

F. Brancati, B. Dallapiccola, R. Mango, 2000, Calcified Tissue International.

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Alfredo Berardelli, Antonio Suppa, A. Berardelli, 2009, Epilepsia.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

F. Brancati, L. Bernardini, F. Vialard, 2023, European Journal of Human Genetics.

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.

F. Brancati, G. Novelli, F. Sangiuolo, 2015, Cellular reprogramming.

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

F. Brancati, G. Novelli, F. Sangiuolo, 2016, European Journal of Human Genetics.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

E. Bertini, F. Brancati, A. Novelli, 2017, Brain and Development.

Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.

F. Brancati, F. Angelucci, G. Annessi, 2019, Acta dermato-venereologica.

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

G. Parati, R. Scala, M. Girardis, 2023, Respiratory Research.

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

S. Mundlos, K. Siminovitch, J. Clayton-Smith, 2008, American journal of medical genetics. Part A.

Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome

F. Brancati, A. Pizzuti, V. Gatta, 2010, The Journal of craniofacial surgery.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives

F. Brancati, M. Castori, G. Ghibellini, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.