Elaine Marchi - Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities

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论文共 24 篇作者统计合作学者相似作者

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ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism

Robert Kleyner, Nathaniel Ung,Mohammad Arif,Elaine Marchi, Karen Amble, Maureen Gavin,Ricardo Madrid,Gholson Lyon

Cold Spring Harbor molecular case studiesno. 4 (2024): mcs.a006303-mcs.a006303

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Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors

Rahi Patel, Agnes Y Park,Elaine Marchi,Andrea L Gropman,Matthew T Whitehead,Gholson J Lyon

medRxiv : the preprint server for health sciences (2024)

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GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Elaine Marchi,Pilar Caro, Ibrahim M Abdelrazek,Jean Tori Pantel,Hannah Klinkhammer, Merle Ten Hagen,Tom Kamphans, Wolfgang Meiswinkel,Jing-Mei Li,

medRxiv : the preprint server for health sciences (2024)

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Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10‐related neurodevelopmental syndrome

Katherine Sandomirsky,Elaine Marchi, Maureen Gavin, Karen Amble,Gholson J. Lyon

American Journal of Medical Genetics - Part Ano. 5 (2023): 1293-1300

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GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

Hellen Lesmann,Gholson J Lyon,Pilar Caro, Ibrahim M Abdelrazek,Shahida Moosa,Jean Tori Pantel, Merle Ten Hagen,Stanislav Rosnev,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Hannah Klinkhammer,

medRxiv : the preprint server for health sciences (2023)

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Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome

Katherine Sandomirsky,Elaine Marchi, Maureen Gavin,Karen Amble,Gholson J Lyon

Am J Med Genet A（2023）

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P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs*

Gholson Lyon,Marall Vedaie, Travis Beisheim, Agnes Park,Elaine Marchi,Leah Gottlieb, Lois Starr,Katherine Sandomirsky,Hanyin Cheng, Isabelle Preddy,Marcellus Tseng,Quan Li,

Genetics in Medicine Openno. 1 (2023): 100266

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Ocular manifestations in a cohort of 43 patients with KBG syndrome

Drake C. Carter, Ola Kierzkowska, Kathleen Sarino,Lily Guo,Elaine Marchi,Gholson J. Lyon

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 4 (2023): e63473-e63473

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Evaluating possible maternal effect lethality of Naa10 knockout mice, and modulation of phenotypes for embryonic and neonatal lethality by genetic background and environment

Gholson J. Lyon, Joseph Longo,Andrew Garcia,Fatima Inusa,Elaine Marchi, Daniel Shi,Max Dörfel,Thomas Arnesen,Rafael Aldabe,Scott Lyons,Melissa Nashat,David Bolton

bioRxiv : the preprint server for biology (2023)

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Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome

Ola Kierzkowska, Kathleen Sarino,Drake Carter, Lily Guo,Elaine Marchi,Anastassia Voronova,Gholson J. Lyon

American journal of medical genetics. Part Ano. 9 (2023): 2364-2375

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