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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Nature communications, 2019-02, Vol.10 (1), p.797-797, Article 797

2019

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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793

2016

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A six-attribute classification of genetic mosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688

2021

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

PLoS genetics, 2013-03, Vol.9 (3), p.e1003358

2013

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Frontiers in genetics, 2022-04, Vol.13, p.652454-652454

2022

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Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1451-1461

2018

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Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature

European journal of medical genetics, 2020-11, Vol.63 (11), p.104042, Article 104042

2020

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Spontaneous remission in a child with an NPHS1 -based congenital nephrotic syndrome

Clinical kidney journal, 2022-10, Vol.15 (10), p.1969-1970

2022

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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Clinical epigenetics, 2022-11, Vol.14 (1), p.1-143, Article 143

2022

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A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

Frontiers in genetics, 2021-03, Vol.12, p.530028-530028

2021

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1615-1626

2015

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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

Journal of clinical medicine, 2020-11, Vol.9 (11), p.3556

2020

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Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome

European journal of medical genetics, 2023-05, Vol.66 (5), p.104745-104745, Article 104745

2023

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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Application of clinical genetics, 2019-01, Vol.12, p.141-150

2019

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16p11.2 Microdeletion: first report in Argentina

Archivos argentinos de pediatría, 2017-12, Vol.115 (6), p.e449-e453

2017

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

BMC medical genetics, 2009-06, Vol.10 (1), p.48-48, Article 48

2009

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Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

American journal of human genetics, 2022-10, Vol.109 (10), p.1828-1849

2022

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NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

Genes, 2023-11, Vol.14 (11), p.2091

2023

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Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus–Infected Recipients of Long-term Antiretroviral Treatment

The Journal of infectious diseases, 2022-01, Vol.225 (2), p.287-294

2022

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A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Genes, 2023-09, Vol.14 (10), p.1878

2023

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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

PloS one, 2017-02, Vol.12 (2), p.e0172363-e0172363

2017

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Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships

Genes, 2023-08, Vol.14 (8), p.1628

2023

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Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

Clinical genetics, 2023-12, Vol.104 (6), p.637-647

2023

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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

A six-attribute classification of genetic mosaicism

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature

Spontaneous remission in a child with an NPHS1 -based congenital nephrotic syndrome

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

16p11.2 Microdeletion: first report in Argentina

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus–Infected Recipients of Long-term Antiretroviral Treatment

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

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