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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

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

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

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

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

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

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

This Month in the Journal

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

Authors: Kathryn Garber

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

Genome Diversity: Applications in Human Population Genetics.

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

Authors: Rebecca L. Cann

The Centromere

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

Authors: William Earnshaw

Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@ajhg.net. 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 2005 in The American Journal of Human Genetics

Announcements11Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to ajhg@u.washington.edu or by fax to (206) 685-9684. Please limit announcements to 150 words, excluding the address for correspondence, and indicate the name of the sponsoring ASHG member. Announcements will be posted on the electronic edition of the Journal within a week of receipt. For the print edition, submissions must be received 5 weeks before the month of the issue in which publication is requested.

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

Letter from the Editor

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

Authors: Steve Warren

Resuscitation and Evolution of a Classic

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

Authors: Reed E. Pyeritz

This month in The Journal

JOURNAL ARTICLE published August 2011 in The American Journal of Human Genetics

Authors: Robin E. Williamson

A Half Century of Medical Genetics—Where Do We Go from Here?*

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

Authors: David L. Rimoin

Erratum

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

Estimated Haplotype Counts from Case-Control Samples Cannot Be Treated as Observed Counts

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

Authors: David Curtis | Pak C. Sham

Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11

JOURNAL ARTICLE published March 1999 in The American Journal of Human Genetics

Authors: B. Funke | L. Edelmann | N. McCain | R.K. Pandita | J. Ferreira | S. Merscher | M. Zohouri | L. Cannizzaro | A. Shanske | B.E. Morrow