Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Autor: Marilyn M. Li, Ahmad Abou Tayoun, Marina DiStefano, Arti Pandya, Heidi L. Rehm, Nathaniel H. Robin, Amanda M. Schaefer, Christine Yoshinaga-Itano

Publikováno v: Genetics in Medicine. 24:1392-1406

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5456d7ada40683f387655a2f1e922b2
https://doi.org/10.1016/j.gim.2022.03.018

Near complete deletion of KMT2D in a college student

Autor: Catherine Gooch, Jaclyn Paige Souder, Matthew L. Tedder, Jennifer Kerkhof, Jennifer A. Lee, Raymond J. Louie, Bekim Sadikovic, Robin S. Fletcher, Nathaniel H. Robin

Publikováno v: Am J Med Genet A

Pathogenic variants in KMT2D are typically associated with Kabuki syndrome (KS), a rare multisystem disorder. KS is characterized by facial dysmorphisms, intellectual disability, skeletal and dermatoglyphic differences, and poor growth. Seventy perce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1bf46b13998c04bc57351eff6c4a824
https://doi.org/10.1002/ajmg.a.62652

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Autor: Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica

Publikováno v: Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383

Item does not contain fulltext PURPOSE: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1724e7c9470d5988fb6a5d2c3c686577
https://doi.org/10.1038/s41436-020-00992-z

The first post‐natal clinical description of true mosaic complete tetrasomy 21: A case report

Autor: Desalyn Louise Johnson, Caterina Abdala Villa, Nathaniel H. Robin, Matthew C Lustig

Publikováno v: American Journal of Medical Genetics Part A. 185:3507-3509

Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd47fec68b129120e3228869f9813446
https://doi.org/10.1002/ajmg.a.62471

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Autor: B Robert Peters, Peina Wu, Ryan K Thorpe, Kenny H. Chan, Richard J.H. Smith, Qiuju Wang, G. Bradley Schaefer, Yoel Hirsch, Pu Dai, Lei Xu, Tao Yang, Huijun Yuan, Nathaniel H. Robin, Krista Sondergaard Schatz, Joann Bodurtha, Hela Azaiez, Zuhair Abdalla Rahbeeni

Publikováno v: Hum Genet

OBJECTIVE: To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD) through the analysis of audiograms and distortion product otoacoustic emissions (DPOAEs) in a diverse cohort of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade0b1b287a85bb4b613bf75112d52fa
https://europepmc.org/articles/PMC9093589/