G. Soares

发表

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2019, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Stephan J Sanders, Alicia R. Martin, K. Roeder, 2018, Cell.

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2018, bioRxiv.

Identification of rare de novo epigenetic variations in congenital disorders

L. Vissers, J. Buxbaum, A. Sharp, 2018, bioRxiv.

Redefining the MED13L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015, European Journal of Human Genetics.

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Marissa A. LeBlanc, D. Huntsman, Weei‐Yuarn Huang, 2014, PLoS genetics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

G. Soares, M. Teixeira, P. Paulo, 2017, The Journal of molecular diagnostics : JMD.

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

B. Ylstra, F. Lopes, P. Maciel, 2013, Orphanet Journal of Rare Diseases.

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2 p 13 . 2

B. Ylstra, F. Lopes, P. Maciel, 2013 .

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

M. Barbosa, G. Soares, A. Superti-Furga, 2011, Clinical genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Mowat–Wilson syndrome: an underdiagnosed syndrome?

Z. Tümer, N. Tommerup, R. Møller, 2008, Clinical genetics.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

G. Soares, A. D. de Brouwer, Nuno Maia, 2020, Frontiers in Genetics.

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

G. Soares, D. David, C. Dias, 2013, Human Genetics.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

H. Van Esch, C. V. van Karnebeek, F. Lopes, 2019, Front. Genet..

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene.

K. Claes, M. Barbosa, G. Soares, 2011, Cancer genetics.

Whole genome sequencing of the multidrug-resistant Chryseobacterium indologenes isolated from a patient in Brazil

G. Soares, E. B. Campanini, L. Cerdeira, 2022, Frontiers in Medicine.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Germline Mutations in PALB 2 , BRCA 1 , and RAD 51 C , Which Regulate DNA Recombination Repair , in Patients With Gastric Cancer

C. Yau, N. Hu, A. Goldstein, 2017 .

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

D. Koboldt, T. Kleefstra, H. van Bokhoven, 2022, American journal of medical genetics. Part A.

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

C. Yau, N. Hu, A. Goldstein, 2017, Gastroenterology.

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

G. Soares, D. David, C. Dias, 2013, Human Genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.

A. Fortuna, G. Soares, Natália Oliva-Teles, 2019, Acta medica portuguesa.

Genomic imbalances defining novel intellectual disability associated loci

F. Duque, G. Oliveira, B. Ylstra, 2019, Orphanet Journal of Rare Diseases.

Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies

V. Cirigliano, G. Soares, Nuno Maia, 2018, BMC Medical Genetics.

Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

G. Soares, A. Medeira, J. Saraiva, 2009, Clinical genetics.

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

F. Lopes, P. Maciel, G. Soares, 2017, Front. Genet..

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Silvio Alessandro Di Gioia, C. Rivolta, N. Matsumoto, 2019, Genetics in Medicine.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

G. Soares, C. Alves, O. Amaral, 2008, Clinical genetics.

Child Neurology: Myoclonus-dystonia in Russell-Silver Syndrome

G. Soares, J. Martins, T. Temudo, 2020, Neurology.

Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria

Y. Crow, N. Boddaert, R. Nabbout, 2018, Clinical genetics.

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

A. Fortuna, G. Soares, Rosário Santos, 2014, Journal of clinical medicine.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

A. Fortuna, G. Soares, A. R. Soares, 2022, JBRA assisted reproduction.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome

A. Fortuna, G. Soares, A. D. de Brouwer, 2017, Molecular Syndromology.

Identification of novel genetic causes of Rett syndrome-like phenotypes

D. Pinto, G. Oliveira, A. Ameur, 2016, Journal of Medical Genetics.

Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).

G. Soares, M. Pinto, C. Rocha, 2005, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.