Adi Reich

GenVec — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index747citations36works0.92yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(10), Connective tissue disorders research(9), Genomics and Rare Diseases(7), Bone Metabolism and Diseases(5), Bone and Dental Protein Studies(5)

Publications36 total

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation
Human Genetics and Genomics Advances·2025· 1 citedOpen Access
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies
Human Genetics and Genomics Advances·2025Open Access
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
Human Genetics and Genomics Advances·2025Open Access
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype
Human Genetics and Genomics Advances·2025· 3 citedOpen Access
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
Human Genetics and Genomics Advances·2025Open Access
P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients*
Genetics in Medicine Open·2025Open Access
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures
Human Genetics and Genomics Advances·2024· 2 citedOpen Access
De novo <i>KCNA6</i> variants with attenuated <scp>K<sub>V</sub></scp>1.6 channel deactivation in patients with epilepsy
Epilepsia·2022· 18 citedOpen Access
3D Events with Stereoscopy with a single Dynamic Vision System
Imaging and Applied Optics Congress 2022 (3D, AOA, COSI, ISA, pcAOP)·2022· 2 cited
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
The American Journal of Human Genetics·2021· 29 citedOpen Access
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Genetics in Medicine·2021· 33 citedOpen Access
Identification of missense <i>MAB21L1</i> variants in microphthalmia and aniridia
Human Mutation·2021· 18 citedOpen Access
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Orphanet Journal of Rare Diseases·2021· 15 citedOpen Access
Delineating the molecular and phenotypic spectrum of the <i>SETD1B</i> -related syndrome
2021Open Access
Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Figshare·2021Open Access
EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum
2020Open Access
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
The American Journal of Human Genetics·2019· 62 citedOpen Access
Lack of PEDF within the bone matrix is associated with osteoidosis and abnormally high bone mineral content
Bone Abstracts·2015
Type V OI Primary Osteoblasts Display Increased Mineralization Despite Decreased<i>COL1A1</i>Expression
The Journal of Clinical Endocrinology & Metabolism·2014· 38 citedOpen Access
The growth plate’s response to load is partially mediated by mechano-sensing via the chondrocytic primary cilium
Cellular and Molecular Life Sciences·2014· 39 citedOpen Access
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Frequent Co-authors

Efrat Monsonego‐Ornan(9), Joan C. Marini(8), Wayne A. Cabral(6), Houda Zghal Elloumi(5), Sureni V. Mullegama(5), Aileen M. Barnes(4), Alison Bae(4), Stéphanie Efthymiou(4), Henry Houlden(4), Amy Crunk(4), Reza Maroofian(4), María J. Guillen Sacoto(4), Lindsay B. Henderson(4), Leandra Folk(4), Olivia L Redlich(4), Alice Y. Tong(3), Frank Rauch(3), Francis H. Glorieux(3), Siddharth Banka(3), Stav Simsa-Maziel(3)