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Showing results for ISSN matching 0002-9297

Exploring Population Admixture Dynamics via Empirical and Simulated Genome-wide Distribution of Ancestral Chromosomal Segments

JOURNAL ARTICLE published November 2012 in The American Journal of Human Genetics

Authors: Wenfei Jin | Sijia Wang | Haifeng Wang | Li Jin | Shuhua Xu

https://doi.org/10.1016/j.ajhg.2012.09.008 Actions

The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK

JOURNAL ARTICLE published February 2024 in The American Journal of Human Genetics

Authors: Osma S. Rautila | Karri Kaivola | Harri Rautila | Laura Hokkanen | Jyrki Launes | Timo E. Strandberg | Hannu Laaksovirta | Johanna Palmio | Pentti J. Tienari

https://doi.org/10.1016/j.ajhg.2023.12.019 Actions

Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice

JOURNAL ARTICLE published January 2022 in The American Journal of Human Genetics

Authors: Chen Tan | Lanlan Meng | Mingrong Lv | Xiaojin He | Yanwei Sha | Dongdong Tang | Yaqi Tan | Tongyao Hu | Wenbin He | Chaofeng Tu | Hongchuan Nie | Huan Zhang | Juan Du | Guangxiu Lu | Li-qing Fan | Yunxia Cao | Ge Lin | Yue-Qiu Tan

https://doi.org/10.1016/j.ajhg.2021.11.022 Actions

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

JOURNAL ARTICLE published December 2020 in The American Journal of Human Genetics

Authors: Anna R. Duncan | Antonio Vitobello | Stephan C. Collins | Valerie E. Vancollie | Christopher J. Lelliott | Lance Rodan | Jiahai Shi | Ann R. Seman | Emanuele Agolini | Antonio Novelli | Paolo Prontera | Maria J. Guillen Sacoto | Teresa Santiago-Sim | Aurélien Trimouille | Cyril Goizet | Mathilde Nizon | Ange-Line Bruel | Christophe Philippe | Patricia E. Grant | Monica H. Wojcik | Joan Stoler | Casie A. Genetti | Marieke F. van Dooren | Saskia M. Maas | Marielle Alders | Laurence Faivre | Arthur Sorlin | Grace Yoon | Binnaz Yalcin | Pankaj B. Agrawal

https://doi.org/10.1016/j.ajhg.2020.11.001 Actions

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System

JOURNAL ARTICLE published November 2010 in The American Journal of Human Genetics

Authors: Efrat Birk | Adi Har-Zahav | Chiara M. Manzini | Metsada Pasmanik-Chor | Liora Kornreich | Christopher A. Walsh | Konrad Noben-Trauth | Adi Albin | Amos J. Simon | Laurence Colleaux | Yair Morad | Limor Rainshtein | David J. Tischfield | Peter Wang | Nurit Magal | Idit Maya | Noa Shoshani | Gideon Rechavi | Doron Gothelf | Gal Maydan | Mordechai Shohat | Lina Basel-Vanagaite

https://doi.org/10.1016/j.ajhg.2010.10.005 Actions

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

JOURNAL ARTICLE published May 2012 in The American Journal of Human Genetics

Authors: Isabelle Perrault | Sophie Saunier | Sylvain Hanein | Emilie Filhol | Albane A. Bizet | Felicity Collins | Mustafa A.M. Salih | Sylvie Gerber | Nathalie Delphin | Karine Bigot | Christophe Orssaud | Eduardo Silva | Véronique Baudouin | Machteld M. Oud | Nora Shannon | Martine Le Merrer | Olivier Roche | Christine Pietrement | Jamal Goumid | Clarisse Baumann | Christine Bole-Feysot | Patrick Nitschke | Mohammed Zahrate | Philip Beales | Heleen H. Arts | Arnold Munnich | Josseline Kaplan | Corinne Antignac | Valérie Cormier-Daire | Jean-Michel Rozet

https://doi.org/10.1016/j.ajhg.2012.03.006 Actions

Human Genetic Affinities for Y-Chromosome P49a,f/TaqI Haplotypes Show Strong Correspondence with Linguistics

JOURNAL ARTICLE published November 1997 in The American Journal of Human Genetics

Authors: E.S. Poloni | O. Semino | G. Passarino | A.S. Santachiara-Benerecetti | I. Dupanloup | A. Langaney | L. Excoffier

https://doi.org/10.1086/301602 Actions

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

JOURNAL ARTICLE published February 2022 in The American Journal of Human Genetics

Authors: Nuno Maia | Sven Potelle | Hamide Yildirim | Sandrine Duvet | Shyam K. Akula | Celine Schulz | Elsa Wiame | Alexander Gheldof | Katherine O’Kane | Abbe Lai | Karen Sermon | Maïa Proisy | Philippe Loget | Tania Attié-Bitach | Chloé Quelin | Ana Maria Fortuna | Ana Rita Soares | Arjan P.M. de Brouwer | Emile Van Schaftingen | Marie-Cécile Nassogne | Christopher A. Walsh | Katrien Stouffs | Paula Jorge | Anna C. Jansen | François Foulquier

https://doi.org/10.1016/j.ajhg.2021.12.010 Actions

2015 William Allan Award 1

JOURNAL ARTICLE published March 2016 in The American Journal of Human Genetics

Authors: Kay E. Davies

https://doi.org/10.1016/j.ajhg.2016.01.007 Actions

This Month in the Journal

JOURNAL ARTICLE published June 2000 in The American Journal of Human Genetics

Authors: Kathryn Beauregard

https://doi.org/10.1086/302944 Actions

This Month in The Journal

JOURNAL ARTICLE published May 2020 in The American Journal of Human Genetics

Authors: Sarah Ratzel | Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2020.04.013 Actions

Erratum

JOURNAL ARTICLE published May 2006 in The American Journal of Human Genetics

https://doi.org/10.1086/503851 Actions

Jane M. Olson (December 6, 1952–May 2, 2004)

JOURNAL ARTICLE published August 2004 in The American Journal of Human Genetics

Authors: Robert C. Elston | Katrina A.B. Goddard

https://doi.org/10.1086/423149 Actions

Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

JOURNAL ARTICLE published November 2001 in The American Journal of Human Genetics

https://doi.org/10.1086/323755 Actions

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

JOURNAL ARTICLE published September 2010 in The American Journal of Human Genetics

Authors: Ludovica Volpi | Gaia Roversi | Elisa Adele Colombo | Nico Leijsten | Daniela Concolino | Andrea Calabria | Maria Antonietta Mencarelli | Michele Fimiani | Fabio Macciardi | Rolph Pfundt | Eric F.P.M. Schoenmakers | Lidia Larizza

https://doi.org/10.1016/j.ajhg.2010.08.012 Actions

This Month in The Journal

JOURNAL ARTICLE published August 2020 in The American Journal of Human Genetics

Authors: Sarah Ratzel | Sara B. Cullinan

https://doi.org/10.1016/j.ajhg.2020.07.009 Actions

This Month in Genetics

JOURNAL ARTICLE published November 2012 in The American Journal of Human Genetics

Authors: Kathryn B. Garber

https://doi.org/10.1016/j.ajhg.2012.10.005 Actions

Errata

JOURNAL ARTICLE published March 2004 in The American Journal of Human Genetics

https://doi.org/10.1086/382477 Actions

Announcements**Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@emory.edu. Submission must be receivedat least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

JOURNAL ARTICLE published January 2005 in The American Journal of Human Genetics

https://doi.org/10.1086/427960 Actions

Regarding “Parental Genotypes in the Risk of a Complex Disease”

JOURNAL ARTICLE published November 2002 in The American Journal of Human Genetics

Authors: Clarice R. Weinberg | Laura Mitchell

https://doi.org/10.1086/344143 Actions
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