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1 . Academic Journal
Using team-based precision medicine to advance understanding of rare genetic brain disorders
저자
by
Steven U. Walkley
;
Sophie Molholm
;
Bryen Jordan
;
Robert W. Marion
;
Melissa Wasserstein
.
소스
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
저자
by
Nicole Kelly
;
Katrina Paleologos
;
Megan Clarke
;
Melissa Wasserstein
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101399- (2024)
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6 . Academic Journal
P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
저자
by
Katrina Paleologos
;
Nicole Kelly
;
Megan Clarke
;
Aaron Goldenberg
;
Melissa Wasserstein
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101788- (2024)
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7 . Academic Journal
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
저자
by
Tarekegn Geberhiwot
;
Melissa Wasserstein
;
Subadra Wanninayake
;
Shaun Christopher Bolton
;
Andrea Dardis
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)
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7 . Academic Journal
P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
저자
by
Jesus Villarrubia
;
Jaya Ganesh
;
Roberto Giugliani
;
Nathalie Guffon
;
Eugen Mengel
, et al.
소스
HemaSphere, Vol 7, p e18031f6 (2023)
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7 . Academic Journal
P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations
저자
by
Priya Marathe
;
Sabrina Suckiel
;
Jacqueline Odgis
;
Katie Gallagher
;
Monisha Sebastin
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100273- (2023)
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7 . Academic Journal
P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial
저자
by
Sabrina Suckiel
;
Nicole Kelly
;
Jacqueline Odgis
;
Katie Gallagher
;
Monisha Sebastin
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100346- (2023)
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7 . Academic Journal
P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
저자
by
Melissa Wasserstein
;
Roberto Giugliani
;
Simon Jones
;
Robin Lachmann
;
Maurizio Scarpa
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100377- (2023)
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7 . Academic Journal
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
저자
by
Amy Brower
;
Kee Chan
;
Marc Williams
;
Susan Berry
;
Robert Currier
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
저자
by
Jinglan Zhang
;
Véronik Lachance
;
Adam Schaffner
;
Xianting Li
;
Anastasia Fedick
, et al.
소스
PLoS Genetics, Vol 12, Iss 4, p e1005848 (2016)
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