S. Sacharow

发表

Desmosterolosis presenting with multiple congenital anomalies.

M. Rohanizadegan, S. Sacharow, 2017, European journal of medical genetics.

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

Kara L Hamilton-Nelson, Stephen L Hauser, Jorge R Oksenberg, 2012, Molecular Autism.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

H. Cavé, M. Ahmadian, M. Tartaglia, 2019, American journal of human genetics.

Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study

W. S. Denney, J. Vockley, S. Sacharow, 2021, Nature Metabolism.

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG‐like syndrome

M. Tekin, S. Sacharow, Yao-Shan Fan, 2012, American journal of medical genetics. Part A.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

J. Vockley, B. Burton, N. Longo, 2018, Genetics in Medicine.

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.

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

P. Mundy, P. Jayakar, L. Elsas, 2007, Human mutation.

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

Scott M. Williams, J. Gilbert, M. Cuccaro, 2011, PloS one.

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

M. Gambello, Henry C. Lin, Julia Wang, 2018, Human mutation.

Clinical Comparison of Overlapping Deletions of 19p13.3

S. Schwartz, P. Papenhausen, S. Sacharow, 2013, American journal of medical genetics. Part A.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Variants in several genomic regions associated with asperger disorder

J. Gilbert, M. Cuccaro, M. Pericak-Vance, 2010, Autism research : official journal of the International Society for Autism Research.

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21

Scott M. Williams, J. Gilbert, M. Cuccaro, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion

S. Bens, R. Siebert, W. Foulkes, 2018, Genes, chromosomes & cancer.

A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis

J. Gilbert, M. Cuccaro, M. Pericak-Vance, 2011, Autism research : official journal of the International Society for Autism Research.

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

S. Sacharow, E. Dudenhausen, M. Kilberg, 2017, Molecular genetics and metabolism.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study

W. S. Denney, J. Vockley, S. Sacharow, 2022, Nature Metabolism.