Andrea M Lewis

发表

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

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

Genotype–phenotype correlations in individuals with pathogenic RERE variants

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

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.

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.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

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

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

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

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.

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

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

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

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

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.

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.

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

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

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.

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.

Availability Of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis

Andrea M Lewis, Andrea M. Lewis, 2014 .

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

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

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.