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Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 8, Page 1696-1696, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Table of Contents, Volume 176A, Number 8, August 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 8, Page 1693-1695, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Nucleic Acid –Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small‐molecule drugs that can selectively bind RNA and modulate pre‐mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy
American Journal of Medical Genetics Part A,Volume 176, Issue 8, Page 1698-1699, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Formate Supplementation May Prevent Some Neural Tube Defects that Prove Resistant to Folic Acid: Supplementation with formate rescued normal neural tube closure in more than three quarters of the embryos of novel folic acid ‐resistant neural tube defect mouse models
American Journal of Medical Genetics Part A,Volume 176, Issue 8, Page 1697-1698, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 8, Page 1700-1700, August 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 23, 2018 Category: Genetics & Stem Cells Source Type: research

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 16, 2018 Category: Genetics & Stem Cells Authors: Roger E. Stevenson , Victoria Vincent , Catherine J. Spellicy , Michael J. Friez , Alka Chaubey Source Type: research

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 8, 2018 Category: Genetics & Stem Cells Authors: Aim é Lumaka , Valerie Race , Hilde Peeters , Anniek Corveleyn , Zeynep Coban‐Akdemir , Shalini N. Jhangiani , Xiaofei Song , Gerrye Mubungu , Jennifer Posey , James R. Lupski , Joris R. Vermeesch , Prosper Source Type: research

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 8, 2018 Category: Genetics & Stem Cells Authors: Rachel D. Burnside , Sharon Molinari , Christina Botti , Susan Sklower Brooks , Wendy K. Chung , Lakshmi Mehta , Stuart Schwartz , Peter Papenhausen Source Type: research

Anti ‐Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 8, 2018 Category: Genetics & Stem Cells Authors: Rasha T. Hamza , Marwa F. Mira , Amira I. Hamed , Treiz Ezzat , Mahmoud T. Sallam Source Type: research

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 8, 2018 Category: Genetics & Stem Cells Authors: Margherita Lucia De Bernardi , Ivan Ivanovski , Stefano Giuseppe Caraffi , Ilenia Maini , Maria Elisabeth Street , Allan Bayat , Marcella Zollino , Francesca Romana Lepri , Maria Gnazzo , Edoardo Errichiello , A Source Type: research

A novel AXIN2 gene mutation in sagittal synostosis
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 8, 2018 Category: Genetics & Stem Cells Authors: Elanur Yilmaz , Ercan Mihci , Banu Guzel Nur , Ozgul M. Alper Source Type: research

Mutations in WDR4 as a new cause of Galloway –Mowat syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 6, 2018 Category: Genetics & Stem Cells Authors: Daniela A. Braun , Shirlee Shril , Aditi Sinha , Ronen Schneider , Weizhen Tan , Shazia Ashraf , Tobias Hermle , Tilman Jobst ‐Schwan , Eugen Widmeier , Amar J. Majmundar , Ankana Daga , Jillian K. Warejko , Source Type: research

1q24 deletion syndrome. Two cases and new insights into genotype ‐phenotype correlations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 6, 2018 Category: Genetics & Stem Cells Authors: Henrietta Lefroy , Olivia Fox , Muhammad K Javaid , Taffy Makaya , Deborah J. Shears Source Type: research

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 6, 2018 Category: Genetics & Stem Cells Authors: Kelly L. Jones , Erin A. McNamara , Mauro Longoni , Danny E. Miller , Mersedeh Rohanizadegan , Laura A. Newman , Frances Hayes , Lynne L. Levitsky , Betty L. Herrington , Angela E. Lin Source Type: research

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - August 2, 2018 Category: Genetics & Stem Cells Authors: David Chitayat , Patrick Shannon , Tami Uster , Marjan M. Nezarati , Rhonda E. Schnur , Elizabeth J. Bhoj Source Type: research