A. Al Shamsi

发表

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation

S. Sacharow, Amal M. Al Teneiji, A. Al Shamsi, 2021, Molecular genetics and metabolism reports.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

C. Lelliott, J. Mellor, J. Lerch, 2022, Biological Psychiatry.

Spectrum of neuro‐genetic disorders in the United Arab Emirates national population

L. Al-Gazali, J. Hertecant, Ela Beyyumi, 2021, Clinical genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

N. Al Hassani, A. Mhanni, R. Almazrouei, 2020, Molecular genetics & genomic medicine.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

J. Rosenfeld, G. Rouleau, N. Koibuchi, 2017, American journal of human genetics.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Expanding the clinical and genetic spectra of NKX6‐2‐related disorder

K. Kandaswamy, P. Bauer, A. Bertoli-Avella, 2018, Clinical genetics.

Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Yaping Yang, F. Xia, Z. Niu, 2017, American journal of medical genetics. Part A.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

J. Hertecant, Amanat Ali, Ranjit Vijayan, 2021, Genes.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.