Publications by authors named "Raas-Rothschild Annick"

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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Annick Raas-Rothschild, Annick Toutain

Mol Psychiatry· April 2024

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Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study.
Assaf A Barg, Yonatan Yeshayahu, Einat Avishai, Ivan Budnik, Omri Cohen, Annick Raas-Rothschild

Pediatr Blood Cancer· February 2024

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Annick Raas-Rothschild

Nat Commun· June 2023

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Katie L Ayers, Stefanie Eggers, Ben N Rollo, Katherine R Smith, Nadia M Davidson, Annick Raas-Rothschild

Nat Commun· June 2023

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Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Annick Raas-Rothschild

Front Genet· January 2023

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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Elizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas-Rothschild

Am J Med Genet A· November 2022

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Vici syndrome in Israel: Clinical and molecular insights.
Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Annick Raas-Rothschild

Front Genet· September 2022

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Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, Danit Atias-Varon, Maayan Kagan, Annick Raas-Rothschild

J Med Genet· July 2022

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A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, Lilach C Regev, Maayan Kagan, Annick Raas-Rothschild

Pediatr Nephrol· July 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Annick Raas-Rothschild

Am J Hum Genet· April 2022

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Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Albert L Misko, Levi B Wood, Madeline DeBono, Rebecca Oberman, Annick Raas-Rothschild

Neurol Genet· April 2022

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Refining the Phenotypic Spectrum of -Associated Developmental Delay.
Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild

Front Pediatr· March 2022

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What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
Shiri Liber, Orna Staretz-Chacham, Mor Kishon, Ben Pode-Shakked, Odelia Chorin, Annick Raas-Rothschild

Mol Syndromol· February 2022

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Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Odelia Chorin, Guy Chowers, Rawan Agbariah, Shani Karklinsky, Ortal Barel, Annick Raas-Rothschild

Eur J Med Genet· January 2022

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Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
Rona Merdler-Rabinowicz, Ben Pode-Shakked, Asaf Vivante, Einat Lahav, Maayan Kagan, Annick Raas-Rothschild

Pediatr Nephrol· December 2021

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Annick Raas-Rothschild

Eur J Hum Genet· September 2021

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Annick Raas-Rothschild

Orphanet J Rare Dis· September 2021

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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Annick Raas-Rothschild

Sci Rep· September 2021

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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H Willemsen, Annick Raas-Rothschild

Mol Psychiatry· June 2021

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Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
Rona Merdler-Rabinowicz, Daphna Prat, Ben Pode-Shakked, Gali Abel, Odelia Chorin, Annick Raas-Rothschild

Eur J Med Genet· June 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, Annick Raas-Rothschild

Orphanet J Rare Dis· March 2021

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Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
Jorik M van Rijn, Lael Werner, Yusuf Aydemir, Joey M A Spronck, Ben Pode-Shakked, Annick Raas-Rothschild

Int J Mol Sci· November 2020

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Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping.
Ben Pode-Shakked, Yael Finezilber, Yonit Levi, Shiri Liber, Nicole Fleischer, Annick Raas-Rothschild

Eur J Med Genet· July 2020

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Correction: Barak, S. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". 2020, , 108.
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Annick Raas-Rothschild

Diagnostics (Basel)· July 2020

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A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Dina Marek-Yagel, Yoav Bolkier, Ortal Barel, Amir Vardi, David Mishali, Annick Raas-Rothschild

Am J Med Genet A· May 2020

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