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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.535-541

2016

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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Genetics in medicine, 2018-07, Vol.20 (7), p.745-753

2018

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P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms

Genetics in Medicine Open, 2024, Vol.2, p.101733

2024

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NUP98‐BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy

Genes chromosomes & cancer, 2018-06, Vol.57 (6), p.311-319

2018

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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.792-800

2014

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P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100360, Article 100360

2023

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Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2705-2712

2011

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Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme]

Annals of allergy, asthma, & immunology, 2013, Vol.110 (1), p.55-56

2013

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Familial deletion 18p syndrome: case report

BMC medical genetics, 2006-07, Vol.7 (1), p.60-60, Article 60

2006

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Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

BMC medical genomics, 2011-03, Vol.4 (1), p.25-25, Article 25

2011

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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.83-90

2010

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The genetic landscape of infantile spasms

Human molecular genetics, 2014-09, Vol.23 (18), p.4846-4858

2014

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Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions

Calcified tissue international, 2016-01, Vol.98 (1), p.76-84

2016

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Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report

Pediatrics (Evanston), 2016-07, Vol.138 (1)

2016

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MG-120 Chorionic villus sampling: 3 cases with discrepancies between ifish, array-cgh and karyotype

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A8-A8

2015

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Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses

Spine (Philadelphia, Pa. 1976), 2017-07, Vol.42 (14), p.E841-E847

2017

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Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly

Pediatric cardiology, 2020-02, Vol.41 (2), p.230-236

2020

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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Human genetics, 2014-03, Vol.133 (3), p.321-330

2014

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

Human mutation, 2008-12, Vol.29 (12), p.1435-1442

2008

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

P822: Navigating genetic risk: Mapping variant's probability of occurring de novo and inferring their effect sizes on neurodevelopmental symptoms

NUP98‐BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis

Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes

Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme]

Familial deletion 18p syndrome: case report

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

The genetic landscape of infantile spasms

Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions

Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report

MG-120 Chorionic villus sampling: 3 cases with discrepancies between ifish, array-cgh and karyotype

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses

Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

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