S. Sousa

发表

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Phenotype and genotype in Nicolaides–Baraitser syndrome

R. Hennekam, S. Sousa, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.

J. Bertherat, C. Stratakis, A. Horvath, 2014, European journal of endocrinology.

UvA-DARE ( Digital Academic Repository ) Loss of the BMP Antagonist , SMOC-1 , Causes Ophthalmo-Acromelic ( Waardenburg Anophthalmia ) Syndrome in Humans and Mice

Wieczorek, Dagmar, Rosanna, 2011 .

Clinical Report Tetra-Amelia and Lung Hypo/Aplasia Syndrome: New Case Report and Review

M. Krahn, J. Saraiva, Marta Amorim, 2008 .

Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review

N. Lévy, M. Krahn, J. Kohlhase, 2008, American journal of medical genetics. Part A.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.

A. Beleza-Meireles, S. Sousa, L. Ramos, 2011, European journal of medical genetics.

Optimising care and follow-up of adults with achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2022, Orphanet Journal of Rare Diseases.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

G. Mortier, M. Maghnie, C. Garel, 2022, Orphanet Journal of Rare Diseases.

Hi-C Identiﬁes Complex Genomic Rearrangements and TAD-Shufﬂing in Developmental Diseases

S. Mundlos, M. Spielmann, M. Vingron, 2020 .

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

A. Zacharia, M. Guipponi, M. Kurian, 2020, American journal of medical genetics. Part A.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

A. Offiah, C. Sánchez-Garre, E. Vallespín, 2018, Clinical endocrinology.

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2011, PLoS genetics.

Fibroblasts derived from patients with opsismodysplasia display SHIP2‐specific cell migration and adhesion defects

C. Erneux, V. Cormier-Daire, M. Wright, 2017, Human mutation.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

R. Hennekam, C. Hall, I. Russell-Eggitt, 2008, American journal of medical genetics. Part A.

Congenital cutaneous ossification

J. Cardoso, S. Sousa, G. Perez de Nanclares, 2021, Journal of paediatrics and child health.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007

S. Maia, J. Saraiva, M. Venâncio, 2010, ISRN obstetrics and gynecology.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

C. Cytrynbaum, R. Weksberg, F. Alkuraya, 2022, Human molecular genetics.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

M. Bitner-Glindzicz, D. Jenkins, P. Clayton, 2018, Human molecular genetics.

Intellectual disability, unusual facial morphology and hand anomalies in sibs

R. Hennekam, P. Beales, G. Moore, 2013, American journal of medical genetics. Part A.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

R. Hennekam, P. Beales, G. Moore, 2014, American journal of medical genetics. Part A.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

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.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

S. Mundlos, U. Kornak, P. Stanier, 2018, American journal of medical genetics. Part A.

Expanding the skeletal phenotype of Loeys‐Dietz syndrome

A. Munnich, F. Brunelle, C. Boileau, 2011, American journal of medical genetics. Part A.

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome?

A. Munnich, D. Krakow, V. Cormier-Daire, 2010, American journal of medical genetics. Part A.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human genetics.

Skeletal complications in mucopolysaccharidosis VI patients: Case reports.

K. White, L. Diogo, P. Garcia, 2010, Journal of Pediatric Rehabilitation Medicine.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

F. Santos-Simarro, S. Sousa, K. Heath, 2023, Clinical genetics.

Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population

S. Sousa, K. Heath, C. Alves, 2021, Journal of Pediatric Genetics.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

I. Jackson, R. Hennekam, H. Brunner, 2018, PLoS Genetics.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

C. Toro, P. Chinnery, J. Rankin, 2023, bioRxiv.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Phenotype and genotype in Nicolaides–Baraitser syndrome

R. Hennekam, S. Sousa, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.