A. Telegrafi

发表

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

D. Valle, E. Jabs, J. Carey, 2017, American journal of medical genetics. Part A.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

M. Shinawi, A. Telegrafi, E. Fassi, 2018, Molecular genetics & genomic medicine.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Julie R. Jones, Allyn McConkie-Rosell, Wendy K. Chung, 2016, Cold Spring Harbor molecular case studies.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

W. Chung, Yufeng Shen, A. Telegrafi, 2016, American journal of human genetics.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

B. V. van Bon, A. Hoischen, B. D. de Vries, 2017, PLoS genetics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

N. Drouot, P. Striano, F. Zara, 2022, Human mutation.

Genotype and phenotype in 12 additional individuals with SATB2‐associated syndrome

E. Zackai, J. Fish, R. Person, 2017, Clinical genetics.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

H. Hakonarson, M. Bamshad, H. Firth, 2022, HGG advances.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

W. Chung, S. Bale, M. Hediger, 2015, Journal of Medical Genetics.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

G. Mortier, B. Peterlin, T. Haack, 2022, Journal of Medical Genetics.

Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings

A. Telegrafi, K. Raraigh, C. Blout, 2014, American journal of medical genetics. Part A.

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

J. Rosenfeld, R. Pfundt, M. Shinawi, 2020, Journal of Medical Genetics.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

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

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

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Cheol‐Hee Kim, C. Skinner, R. Stevenson, 2020, Nature Communications.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

S. Bale, A. Telegrafi, Brooke T. Smith, 2016, American journal of medical genetics. Part A.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

K. Gripp, A. Telegrafi, K. Monaghan, 2016, American journal of medical genetics. Part A.

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

I. Thiffault, M. Lyons, R. Louie, 2021, American journal of medical genetics. Part A.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

S. Leal, R. Stevenson, G. B. Schaefer, 2019, bioRxiv.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

W. Chung, I. Krantz, P. Hulick, 2019, European Journal of Human Genetics.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

E. Zackai, A. Telegrafi, C. Skraban, 2018, American journal of medical genetics. Part A.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

S. Leal, R. Stevenson, G. B. Schaefer, 2020, American journal of human genetics.

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

E. Zackai, M. Deardorff, A. Telegrafi, 2018, American journal of medical genetics. Part A.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Monogenic variants in dystonia: an exome-wide sequencing study

W. Chung, J. Volkmann, T. Strom, 2020, The Lancet Neurology.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

A. Singleton, T. Rinne, J. Christodoulou, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Z. Mari, A. Telegrafi, D. Batista, 2013, Clinical genetics.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

A. Telegrafi, C. Phornphutkul, M. Osmond, 2024, American journal of human genetics.

Myoclonus‐dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Z. Mari, A. Telegrafi, D. Batista, 2013, Clinical genetics.