Publications by authors named "Adi Reich"

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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies.
Michelle M Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Adi Reich

HGG Adv· July 2025

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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.
Bobbi McGivern, Tess Holling, Maria J Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M Abdelrazek, Adi Reich

HGG Adv· July 2025

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A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.
Alison M Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink

HGG Adv· April 2025

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
Melanie P Napier, Erin Ryan, Adi Reich, Joshua A Suhl, Diane Masser-Frye

HGG Adv· April 2025

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A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype.
Leah Rowe, Sureni V Mullegama, Rachel Lombardo, Caitlin Barnes, Shelley Towner, Adi Reich

HGG Adv· April 2025

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De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.
Erin Torti, Sureni V Mullegama, Isabelle De Bie, Angelique Mercier, Deanna Alexis Carere, Adi Reich

HGG Adv· April 2025

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De novo KCNA6 variants with attenuated K 1.6 channel deactivation in patients with epilepsy.
Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, Emer O'Connor, Anna Marcé-Grau, Adi Reich

Epilepsia· February 2023

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Adi Reich

Am J Hum Genet· December 2021

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Adi Reich

Genet Med· November 2021

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Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Sarah E Seese, Linda M Reis, Brett Deml, Christopher Griffith, Adi Reich

Hum Mutat· July 2021

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, Steffen Uebe, Mary-Alice Abbott, Adi Reich

Orphanet J Rare Dis· March 2021

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Adi Reich

Am J Hum Genet· May 2019

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The growth plate's response to load is partially mediated by mechano-sensing via the chondrocytic primary cilium.
Yoach Rais, Adi Reich, Stav Simsa-Maziel, Maya Moshe, Anna Idelevich

Cell Mol Life Sci· February 2015

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Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
Adi Reich, Alison S Bae, Aileen M Barnes, Wayne A Cabral, Aleksander Hinek

J Clin Endocrinol Metab· February 2015

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Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Joan C Marini, Adi Reich, Simone M Smith

Curr Opin Pediatr· August 2014

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A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.
Charles R Farber, Adi Reich, Aileen M Barnes, Patricia Becerra, Frank Rauch

J Bone Miner Res· June 2014

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IL-1RI participates in normal growth plate development and bone modeling.
Stav Simsa-Maziel, Janna Zaretsky, Adi Reich, Yoav Koren, Ron Shahar

Am J Physiol Endocrinol Metab· July 2013

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The role of matrix gla protein in ossification and recovery of the avian growth plate.
Harel Dan, Stav Simsa-Maziel, Adi Reich, Dalit Sela-Donenfeld, Efrat Monsonego-Ornan

Front Endocrinol (Lausanne)· August 2012

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Involvement of matrix metalloproteinases in the growth plate response to physiological mechanical load.
Adi Reich, Stav Simsa Maziel, Ziv Ashkenazi, Efrat Monsonego Ornan

J Appl Physiol (1985)· January 2010

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The effect of weight loading and subsequent release from loading on the postnatal skeleton.
Adi Reich, Amnon Sharir, Elazar Zelzer, Lilach Hacker, Efrat Monsonego-Ornan

Bone· October 2008

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