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Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100942, Article 100942

2022

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Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

The Journal of pediatrics, 2006-07, Vol.149 (1), p.89-97

2006

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Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Laboratory investigation, 2006-12, Vol.86 (12), p.1208-1220

2006

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Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1463-1467

2009

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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1240-1247

2012

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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2500-2504

2017

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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100859-100859, Article 100859

2022

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Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2766-2770

2011

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1833-1852

2013

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

HGG advances, 2022-07, Vol.3 (3), p.100102-100102, Article 100102

2022

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

HGG advances, 2023-01, Vol.4 (1), p.100168, Article 100168

2023

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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Genetics in medicine, 2020-06, Vol.22 (6), p.986-1004

2020

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

American journal of human genetics, 2019-02, Vol.104 (2), p.213-228

2019

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Oculocutaneous albinism spectrum

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1590-1591

2009

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Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2430-2434

2007

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

American journal of human genetics, 2020-11, Vol.107 (5), p.963-976

2020

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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain

Urolithiasis, 2023-08, Vol.51 (1), p.101-101, Article 101

2023

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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

American journal of human genetics, 2014-11, Vol.95 (5), p.579-583

2014

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Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Pediatrics (Evanston), 2016-01, Vol.137 (1)

2016

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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.547-554

2011

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Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2365-2371

2010

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A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers

Cancer genetics, 2021-06, Vol.254-255, p.18-24

2021

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Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1493-1496

2008

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Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions

Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia

Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

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

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

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

Oculocutaneous albinism spectrum

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome

A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

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