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A typical variant in TCF4 exon 18 is not associated with Pitt–Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1070-1076

2023

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Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.528-533

2021

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Delayed diagnosis and racial bias in children with genetic conditions

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1118-1123

2022

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Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2877-2881

2018

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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.513-520

2020

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Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

American journal of medical genetics. Part A, 2024-05, p.e63709

2024

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P566: Global genetic health assessment project: Let's not leave anyone behind

Genetics in Medicine Open, 2024, Vol.2, p.101465, Article 101465

2024

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P093: A male patient with mild osteopathia striata with cranial sclerosis, expanding the phenotypic spectrum

Genetics in Medicine Open, 2023, Vol.1 (1), p.100122, Article 100122

2023

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eP066: Pitt-Hopkins syndrome, A high functioning family with milder phenotypes

Genetics in medicine, 2022-03, Vol.24 (3), p.S44-S44

Abu-El-Haija, Aya

2022

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A typical variant in TCF4 exon 18 is not associated with P itt– H opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1070-1076

2023

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A descriptive analysis of a cohort of 300 Birt-Hogg-Dubé syndrome patients with FLCN pathogenic/likely pathogenic variants

Molecular genetics and metabolism, 2021-04, Vol.132, p.S35-S36

2021

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OP049 - A descriptive analysis of a cohort of 300 Birt-Hogg-Dubé syndrome patients with FLCN pathogenic/likely pathogenic variants

Molecular genetics and metabolism, 2021-04, Vol.132, p.S35-S36

2021

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Craving Answers

The New England journal of medicine, 2022-03, Vol.386 (9), p.880-886

2022

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The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-05, Vol.25 (5), p.100803-100803, Article 100803

2023

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Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-05, Vol.25 (5), p.100804-100804, Article 100804

2023

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

American journal of human genetics, 2024-07, Vol.111 (7), p.1330-1351

2024

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Cobalamin D Deficiency Identified Through Newborn Screening

JIMD Reports, Volume 44, 2019, Vol.44, p.73-77

2019

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A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

American journal of medical genetics. Part A, 2023, Vol.191 (4), p.1070-1076

2023

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Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

American journal of medical genetics. Part A, 2024, p.e63709-e63709

2024

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Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

American journal of medical genetics. Part A, 2021, Vol.185 (2), p.528-533

2021

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A typical variant in TCF4 exon 18 is not associated with Pitt–Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

Delayed diagnosis and racial bias in children with genetic conditions

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

P566: Global genetic health assessment project: Let's not leave anyone behind

P093: A male patient with mild osteopathia striata with cranial sclerosis, expanding the phenotypic spectrum

eP066: Pitt-Hopkins syndrome, A high functioning family with milder phenotypes

A typical variant in TCF4 exon 18 is not associated with P itt– H opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

A descriptive analysis of a cohort of 300 Birt-Hogg-Dubé syndrome patients with FLCN pathogenic/likely pathogenic variants

OP049 - A descriptive analysis of a cohort of 300 Birt-Hogg-Dubé syndrome patients with FLCN pathogenic/likely pathogenic variants

Craving Answers

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Cobalamin D Deficiency Identified Through Newborn Screening

A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder

Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms

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