Andrea M. Lewis

发表

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Ellen F. Macnamara, Colleen E. Wahl, J. Rosenfeld, 2018, American journal of human genetics.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Availability Of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis

Andrea M Lewis, Andrea M. Lewis, 2014 .

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

A. Gerard, Kimberly Nugent, Haley E. Streff, 2021, Genetics in Medicine.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

J. Rosenfeld, L. Reinholdt, F. Scaglia, 2017, Human molecular genetics.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

S. Lalani, Yaping Yang, C. Eng, 2016, American journal of human 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.

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Michael F. Wangler, J. Rosenfeld, H. Mefford, 2020, Molecular genetics & genomic medicine.

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Wendy K. Chung, W. Chung, M. Bekheirnia, 2016, Cold Spring Harbor molecular case studies.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

L. Aaltonen, A. Palotie, M. Kurki, 2019, Genetics in Medicine.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

J. Rosenfeld, S. Lalani, Yaping Yang, 2019, Neurology: Genetics.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Yaping Yang, L. Potocki, D. Scott, 2019, Journal of Pediatric Genetics.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Nikita R. Dsouza, Magalie S Leduc, J. Graham, 2022, Genome Medicine.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

F. Scaglia, K. Õunap, M. He, 2020, Genetics in Medicine.

Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1)

Andrea M Lewis, Allison Goetsch Weisman, N. Srdanovic, 2020, Comprehensive child and adolescent nursing.

Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

Michael F. Wangler, D. Wechsler, T. Crawford, 2019, Journal of pediatric hematology/oncology.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Ben-Shachar, 2019, Prenatal diagnosis.

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.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Parental perceptions of genetic testing for children with autism spectrum disorders

C. Schaaf, P. Lupo, Andrea M. Lewis, 2021, American journal of medical genetics. Part A.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Barriers to a successful healthcare transition for individuals with urea cycle disorders.

W. Craigen, R. Marom, P. Magoulas, 2023, Molecular genetics and metabolism.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

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.

Application of a severity framework to 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Slotnick, 2019 .

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Intraperitoneal bladder rupture in a young child with vascular Ehlers‐Danlos syndrome

S. Morris, W. Miller‐Hance, E. Jones, 2020, American journal of medical genetics. Part A.