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Showing results for ISSN matching 0002-9297

Comparative Genomic Hybridization in Combination with Flow Cytometry Improves Results of Cytogenetic Analysis of Spontaneous Abortions

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

Authors: Brenda Lomax | Steven Tang | Evica Separovic | Don Phillips | E. Hillard | Tom Thomson | Dagmar K. Kalousek

https://doi.org/10.1086/302878 Actions

A Novel Homoplasmic Mutation in mtDNA with a Single Evolutionary Origin as a Risk Factor for Cardiomyopathy

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

Authors: Wee Soo Shin | Masashi Tanaka | Jun-ichi Suzuki | Chieko Hemmi | Teruhiko Toyo-oka

https://doi.org/10.1086/316896 Actions

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

JOURNAL ARTICLE published June 2021 in The American Journal of Human Genetics

Authors: Alban Ziegler | Rémi Duclaux-Loras | Céline Revenu | Fabienne Charbit-Henrion | Bernadette Begue | Karine Duroure | Linda Grimaud | Anne Laure Guihot | Valérie Desquiret-Dumas | Mohammed Zarhrate | Nicolas Cagnard | Emmanuel Mas | Anne Breton | Thomas Edouard | Clarisse Billon | Michael Frank | Estelle Colin | Guy Lenaers | Daniel Henrion | Stanislas Lyonnet | Laurence Faivre | Yves Alembik | Anaïs Philippe | Bruno Moulin | Eyal Reinstein | Shay Tzur | Ruben Attali | George McGillivray | Susan M. White | Lyndon Gallacher | Kerstin Kutsche | Pauline Schneeberger | Katta M. Girisha | Shalini S. Nayak | Lynn Pais | Reza Maroofian | Aboulfazl Rad | Barbara Vona | Ehsan Ghayoor Karimiani | Caroline Lekszas | Thomas Haaf | Ludovic Martin | Frank Ruemmele | Dominique Bonneau | Nadine Cerf-Bensussan | Filippo Del Bene | Marianna Parlato

https://doi.org/10.1016/j.ajhg.2021.04.020 Actions

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

JOURNAL ARTICLE published June 2014 in The American Journal of Human Genetics

Authors: Ian Blumenthal | Ashok Ragavendran | Serkan Erdin | Lambertus Klei | Aarathi Sugathan | Jolene R. Guide | Poornima Manavalan | Julian Q. Zhou | Vanessa C. Wheeler | Joshua Z. Levin | Carl Ernst | Kathryn Roeder | Bernie Devlin | James F. Gusella | Michael E. Talkowski

https://doi.org/10.1016/j.ajhg.2014.05.004 Actions

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

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

Authors: Lavinia Paternoster | Alexei I. Zhurov | Arshed M. Toma | John P. Kemp | Beate St. Pourcain | Nicholas J. Timpson | George McMahon | Wendy McArdle | Susan M. Ring | George Davey Smith | Stephen Richmond | David M. Evans

https://doi.org/10.1016/j.ajhg.2011.12.021 Actions

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

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

Authors: Rui Luo | Stephan J. Sanders | Yuan Tian | Irina Voineagu | Ni Huang | Su H. Chu | Lambertus Klei | Chaochao Cai | Jing Ou | Jennifer K. Lowe | Matthew E. Hurles | Bernie Devlin | Matthew W. State | Daniel H. Geschwind

https://doi.org/10.1016/j.ajhg.2012.05.011 Actions

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

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

Research funded by CIHR (RCN-137793,RCN-160422)

Authors: Kym M. Boycott | Philippe M. Campeau | Heather E. Howley | Paul Pavlidis | Sanja Rogic | Christine Oriel | Jason N. Berman | Robert M. Hamilton | Geoffrey G. Hicks | Howard D. Lipshitz | Jean-Yves Masson | Eric. A. Shoubridge | Anne Junker | Michel R. Leroux | Christopher R. McMaster | Jaques L. Michaud | Stuart E. Turvey | David Dyment | A. Micheil Innes | Clara D. van Karnebeek | Anna Lehman | Ronald D. Cohn | Ian M. MacDonald | Richard A. Rachubinski | Patrick Frosk | Anthony Vandersteen | Richard W. Wozniak | Izabella A. Pena | Xiao-Yan Wen | Thierry Lacaze-Masmonteil | Catharine Rankin | Philip Hieter

https://doi.org/10.1016/j.ajhg.2020.01.009 Actions

High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes

JOURNAL ARTICLE published August 2023 in The American Journal of Human Genetics

Authors: Yuan-Yuan Duan | Xiao-Feng Chen | Ren-Jie Zhu | Ying-Ying Jia | Xiao-Ting Huang | Meng Zhang | Ning Yang | Shan-Shan Dong | Mengqi Zeng | Zhihui Feng | Dong-Li Zhu | Hao Wu | Feng Jiang | Wei Shi | Wei-Xin Hu | Xin Ke | Hao Chen | Yunlong Liu | Rui-Hua Jing | Yan Guo | Meng Li | Tie-Lin Yang

https://doi.org/10.1016/j.ajhg.2023.07.002 Actions

Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?

JOURNAL ARTICLE published December 1998 in The American Journal of Human Genetics

Authors: John R. Forbes | Diane W. Cox

https://doi.org/10.1086/302163 Actions

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

JOURNAL ARTICLE published January 2008 in The American Journal of Human Genetics

Authors: Amy K. Reeve | Kim J. Krishnan | Joanna L. Elson | Christopher M. Morris | Andreas Bender | Robert N. Lightowlers | Douglass M. Turnbull

https://doi.org/10.1016/j.ajhg.2007.09.018 Actions

A Unified Haseman-Elston Method for Testing Linkage with Quantitative Traits

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

Authors: Xin Xu | Scott Weiss | Xiping Xu | L.J. Wei

https://doi.org/10.1086/303081 Actions

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

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

Authors: D. Beysen | J. Raes | B.P. Leroy | A. Lucassen | J.R.W. Yates | J. Clayton-Smith | H. Ilyina | S. Sklower Brooks | S. Christin-Maitre | M. Fellous | J.P. Fryns | J.R. Kim | P. Lapunzina | E. Lemyre | F. Meire | L.M. Messiaen | C. Oley | M. Splitt | J. Thomson | Y. Van de Peer | R.A. Veitia | A. De Paepe | E. De Baere

https://doi.org/10.1086/432083 Actions

Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance

JOURNAL ARTICLE published October 2007 in The American Journal of Human Genetics

Authors: Jacqueline Milet | Valérie Déhais | Catherine Bourgain | Anne Marie Jouanolle | Annick Mosser | Michèle Perrin | Jeff Morcet | Pierre Brissot | Véronique David | Yves Deugnier | Jean Mosser

https://doi.org/10.1086/520001 Actions

The Strength of Selection on Ultraconserved Elements in the Human Genome

JOURNAL ARTICLE published April 2007 in The American Journal of Human Genetics

Authors: Christina T.L. Chen | Jen C. Wang | Barak A. Cohen

https://doi.org/10.1086/513149 Actions

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability

JOURNAL ARTICLE published January 2021 in The American Journal of Human Genetics

Authors: Fabian Meili | William J. Wei | Wun-Chey Sin | Warren M. Meyers | Iulia Dascalu | Daniel B. Callaghan | Sanja Rogic | Paul Pavlidis | Kurt Haas

https://doi.org/10.1016/j.ajhg.2020.11.011 Actions

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

JOURNAL ARTICLE published November 2015 in The American Journal of Human Genetics

Authors: Claire Angebault | Pierre-Olivier Guichet | Yasmina Talmat-Amar | Majida Charif | Sylvie Gerber | Lucas Fares-Taie | Naig Gueguen | François Halloy | David Moore | Patrizia Amati-Bonneau | Gael Manes | Maxime Hebrard | Béatrice Bocquet | Mélanie Quiles | Camille Piro-Mégy | Marisa Teigell | Cécile Delettre | Mireille Rossel | Isabelle Meunier | Markus Preising | Birgit Lorenz | Valerio Carelli | Patrick F. Chinnery | Patrick Yu-Wai-Man | Josseline Kaplan | Agathe Roubertie | Abdelhamid Barakat | Dominique Bonneau | Pascal Reynier | Jean-Michel Rozet | Pascale Bomont | Christian P. Hamel | Guy Lenaers

https://doi.org/10.1016/j.ajhg.2015.10.015 Actions

This Month in the Journal

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

Authors: Kathryn Garber

https://doi.org/10.1086/430390 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, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, 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 December 2003 in The American Journal of Human Genetics

https://doi.org/10.1086/511941 Actions

Genome Diversity: Applications in Human Population Genetics.

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

Authors: Rebecca L. Cann

https://doi.org/10.1086/322936 Actions

The Centromere

JOURNAL ARTICLE published July 1998 in The American Journal of Human Genetics

Authors: William Earnshaw

https://doi.org/10.1086/301914 Actions
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