A. Accogli

C. Romano, A. Righini, M. Fumagalli, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review

P. Striano, N. Brunetti‐Pierri, G. Scarano, 2022, Birth defects research.

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

V. Capra, M. Severino, D. Tortora, 2017, World neurosurgery.

Diagnostic Approach to Macrocephaly in Children

P. Striano, M. Maghnie, F. Zara, 2022, Frontiers in Pediatrics.

Neurogenesis, neuronal migration, and axon guidance.

M. Srour, A. Accogli, Nassima Addour-Boudrahem, 2020, Handbook of clinical neurology.

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

V. Capra, M. Severino, D. Tortora, 2022, Brain and Development.

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

V. Capra, M. Severino, M. Pinelli, 2020, Birth defects research.

17q23.3 de novo microdeletion involving only TANC2 gene: a new case.

G. Gimelli, D. Tortora, D. Coviello, 2020, European journal of medical genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

P. Striano, F. Zara, V. Capra, 2021, Cancers.

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

M. Maghnie, V. Capra, M. Severino, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

E. Merello, V. Capra, C. Fiorillo, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Genetic Screening of Pediatric Cavernous Malformations

E. Merello, A. Raso, A. Accogli, 2016, Journal of Molecular Neuroscience.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

P. Striano, F. Zara, E. Fulcheri, 2020, Frontiers in Neuroscience.

Environmental Factors and Type 1 Diabetes Mellitus in Pediatric Age Group

G. d’Annunzio, R. Lorini, A. Accogli, 2013 .

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

P. Striano, F. Zara, V. Capra, 2022, Frontiers in Pediatrics.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

P. De Camilli, H. Cross, Matteo P. Ferla, 2021, Brain : a journal of neurology.

Role of IL-1 Beta in the Development of Human TH17 Cells: Lesson from NLPR3 Mutated Patients

A. Martini, E. Traggiai, A. Accogli, 2011, PloS one.

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

P. Striano, F. Zara, A. Riva, 2021, International journal of molecular sciences.

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

M. Maghnie, S. Gustincich, M. Dattani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2020, Human mutation.

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

P. Striano, A. Coppola, F. Zara, 2020, Seizure.

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.

P. Striano, F. Zara, M. Severino, 2022, European journal of medical genetics.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

G. Carvill, P. Striano, L. Bird, 2021, bioRxiv.

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Gloria L. Porras-Hurtado, J. Vincent, Hiba Mohammed, 2021, European Journal of Human Genetics.

A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies

G. Rouleau, F. Hamdan, J. Michaud, 2018, American journal of medical genetics. Part A.

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

P. Striano, F. Zara, V. Capra, 2017, Neurology: Genetics.

Chiari malformation type I: what information from the genetics?

F. Zara, V. Capra, M. Iacomino, 2019, Child's Nervous System.

Rare deleterious variants in GRHL3 are associated with human spina bifida

G. Rouleau, A. Dionne‐Laporte, P. Lemay, 2017, Human mutation.

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

V. Capra, M. Severino, P. Fiaschi, 2016, World neurosurgery.

Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts

M. Severino, D. Tortora, L. Nobili, 2022, Neuroradiology.

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

P. Striano, V. Capra, M. Severino, 2019, Journal of Neurology.

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

A. Magi, E. Merello, V. Capra, 2017, European Journal of Human Genetics.

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

F. Alkuraya, H. Kearney, V. Capra, 2019, Human mutation.

Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.

B. Brais, D. Tampieri, R. La Piana, 2019, The Journal of Neuropsychiatry and Clinical Neurosciences.

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder

J. Rivière, Y. Trakadis, A. Schiavetto, 2020, Journal of Genetics.

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder

J. Rivière, Y. Trakadis, A. Schiavetto, 2020, Journal of Genetics.

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

G. Gimelli, M. Severino, M. Di Rocco, 2015, Molecular Cytogenetics.

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome

M. Maghnie, V. Capra, M. Severino, 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.

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

P. Striano, A. Coppola, G. Cantalupo, 2022, Neurology: Genetics.

PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy

J. Rivière, C. Saint-Martin, M. Srour, 2021, European Journal of Medical Genetics.

De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy

D. Kullmann, P. Striano, F. Zara, 2022, Epilepsia.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Thomas M. Kitzler, H. Rehm, Shrikant Mane, 2021, American journal of medical genetics. Part A.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins

P. Striano, M. Larsen, Philippe M. Campeau, 2021, Clinical genetics.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

P. Striano, S. Vernes, F. Zara, 2023, Human Genetics.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

G. Rouleau, J. Rivière, C. Saint-Martin, 2019, neurogenetics.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

T. Hadjistilianou, V. Capra, E. Trevisson, 2018, European Journal of Human Genetics.

Epileptic Encephalopathy in Adams–Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

V. Capra, G. Morana, A. Accogli, 2018, Neuropediatrics.

Erratum: Serum-specific IgE and allergen immunotherapy in allergic children (Immunotherapy (2014) 6:1 (29-33))

G. Ciprandi, M. Tosca, A. Accogli, 2014 .

Reply to Braun et al. “Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion”

F. Zara, A. Accogli, Pasqule Striano, 2021, Seizure.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

V. Capra, M. Severino, A. D’Amico, 2019, European Journal of Human Genetics.

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

V. Capra, A. Accogli, T. Bellini, 2017, Birth defects research.

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

V. Capra, M. Severino, A. Accogli, 2019, European journal of medical genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Hydranencephaly in CENPJ-related Seckel syndrome.

P. Striano, A. Coppola, L. Ugga, 2022, European journal of medical genetics.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

Chiari malformation type I: what information from the genetics?

F. Zara, V. Capra, M. Iacomino, 2019, Child's Nervous System.

Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

R. Joober, Y. Trakadis, A. Accogli, 2023, Psychiatry Research Case Reports.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.

P. Striano, F. Zara, M. Severino, 2023, Pediatric neurology.

Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

V. Capra, C. Cabrol, A. Accogli, 2020, American journal of medical genetics. Part A.

Long-term follow-up of systemic onset juvenile idiopathic arthritis patients treated with Anakinra

A. Martini, A. Accogli, M. Gattorno, 2011, Pediatric Rheumatology Online Journal.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

C. Cytrynbaum, R. Weksberg, J. Lupski, 2024, NPJ genomic medicine.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

S. Lalani, R. Louie, G. Chillemi, 2024, Nature communications.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

A. Kaykas, C. Bénéteau, B. Cogné, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Developmental outcomes in children with congenital cerebellar malformations

C. Saint-Martin, M. Shevell, M. Srour, 2018, Developmental medicine and child neurology.