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This Month in the Journal

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

Authors: John Ashkenas

https://doi.org/10.1086/302482 Actions

Announcements11. Announcements 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 ½-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 March 2004 in The American Journal of Human Genetics

https://doi.org/10.1086/511939 Actions

Maimon M. Cohen: January 24, 1935, to January 25, 2007

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

Authors: Kurt Hirschhorn | Michael Kaback | David Rimoin

https://doi.org/10.1086/517617 Actions

This Month in theJournal

JOURNAL ARTICLE published July 2003 in The American Journal of Human Genetics

Authors: Kathryn Garber

https://doi.org/10.1086/376886 Actions

JOURNAL ISSUE published January 2007 in The American Journal of Human Genetics

https://doi.org/10.1086/521804 Actions

JOURNAL ISSUE published April 2000 in The American Journal of Human Genetics

https://doi.org/10.1086/ajhg.2000.66.issue-4 Actions

This Month in Genetics

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

Authors: Kathryn B. Garber

https://doi.org/10.1016/j.ajhg.2008.01.004 Actions

Erratum

JOURNAL ARTICLE published October 2003 in The American Journal of Human Genetics

https://doi.org/10.1086/378821 Actions

Erratum

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

https://doi.org/10.1016/s0002-9297(07)61826-6 Actions

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

JOURNAL ARTICLE published November 2019 in The American Journal of Human Genetics

Research funded by Health Innovation Challenge Fund (HICF-1009-003) | Wellcome Sanger Institute (WT098051) | Wellcome (200990/Z/16/Z,WT091310) | MRC Career Development Award (MR/M02122X/1)

Authors: Stuart Aitken | Helen V. Firth | Jeremy McRae | Mihail Halachev | Usha Kini | Michael J. Parker | Melissa M. Lees | Katherine Lachlan | Ajoy Sarkar | Shelagh Joss | Miranda Splitt | Shane McKee | Andrea H. Németh | Richard H. Scott | Caroline F. Wright | Joseph A. Marsh | Matthew E. Hurles | David R. FitzPatrick | T.W. Fitzgerald | S.S. Gerety | W.D. Jones | M. van Kogelenberg | D.A. King | J. McRae | K.I. Morley | V. Parthiban | S. Al-Turki | K. Ambridge | D.M. Barrett | T. Bayzetinova | S. Clayton | E.L. Coomber | S. Gribble | P. Jones | N. Krishnappa | L.E. Mason | A. Middleton | R. Miller | E. Prigmore | D. Rajan | A. Sifrim | A.R. Tivey | M. Ahmed | N. Akawi | R. Andrews | U. Anjum | H. Archer | R. Armstrong | M. Balasubramanian | R. Banerjee | D. Barelle | P. Batstone | D. Baty | C. Bennett | J. Berg | B. Bernhard | A.P. Bevan | E. Blair | M. Blyth | D. Bohanna | L. Bourdon | D. Bourn | A. Brady | E. Bragin | C. Brewer | L. Brueton | K. Brunstrom | S.J. Bumpstead | D.J. Bunyan | J. Burn | J. Burton | N. Canham | B. Castle | K. Chandler | S. Clasper | J. Clayton-Smith | T. Cole | A. Collins | M.N. Collinson | F. Connell | N. Cooper | H. Cox | L. Cresswell | G. Cross | Y. Crow | P.M. D’Alessandro | T. Dabir | R. Davidson | S. Davies | J. Dean | C. Deshpande | G. Devlin | A. Dixit | A. Dominiczak | C. Donnelly | D. Donnelly | A. Douglas | A. Duncan | J. Eason | S. Edkins | S. Ellard | P. Ellis | F. Elmslie | K. Evans | S. Everest | T. Fendick | R. Fisher | F. Flinter | N. Foulds | A. Fryer | B. Fu | C. Gardiner | L. Gaunt | N. Ghali | R. Gibbons | S.L. Gomes Pereira | J. Goodship | D. Goudie | E. Gray | P. Greene | L. Greenhalgh | L. Harrison | R. Hawkins | S. Hellens | A. Henderson | E. Hobson | S. Holden | S. Holder | G. Hollingsworth | T. Homfray | M. Humphreys | J. Hurst | S. Ingram | M. Irving | J. Jarvis | L. Jenkins | D. Johnson | D. Jones | E. Jones | D. Josifova | S. Joss | B. Kaemba | S. Kazembe | B. Kerr | U. Kini | E. Kinning | G. Kirby | C. Kirk | E. Kivuva | A. Kraus | D. Kumar | K. Lachlan | W. Lam | A. Lampe | C. Langman | M. Lees | D. Lim | G. Lowther | S.A. Lynch | A. Magee | E. Maher | S. Mansour | K. Marks | K. Martin | U. Maye | E. McCann | V. McConnell | M. McEntagart | R. McGowan | K. McKay | S. McKee | D.J. McMullan | S. McNerlan | S. Mehta | K. Metcalfe | E. Miles | S. Mohammed | T. Montgomery | D. Moore | S. Morgan | A. Morris | J. Morton | H. Mugalaasi | V. Murday | L. Nevitt | R. Newbury-Ecob | A. Norman | R. O’Shea | C. Ogilvie | S. Park | M.J. Parker | C. Patel | J. Paterson | S. Payne | J. Phipps | D.T. Pilz | D. Porteous | N. Pratt | K. Prescott | S. Price | A. Pridham | A. Proctor | H. Purnell | N. Ragge | J. Rankin | L. Raymond | D. Rice | L. Robert | E. Roberts | G. Roberts | J. Roberts | P. Roberts | A. Ross | E. Rosser | A. Saggar | S. Samant | R. Sandford | A. Sarkar | S. Schweiger | C. Scott | R. Scott | A. Selby | A. Seller | C. Sequeira | N. Shannon | S. Sharif | C. Shaw-Smith | E. Shearing | D. Shears | I. Simonic | D. Simpkin | R. Singzon | Z. Skitt | A. Smith | B. Smith | K. Smith | S. Smithson | L. Sneddon | M. Splitt | M. Squires | F. Stewart | H. Stewart | M. Suri | V. Sutton | G.J. Swaminathan | E. Sweeney | K. Tatton-Brown | C. Taylor | R. Taylor | M. Tein | I.K. Temple | J. Thomson | J. Tolmie | A. Torokwa | B. Treacy | C. Turner | P. Turnpenny | C. Tysoe | A. Vandersteen | P. Vasudevan | J. Vogt | E. Wakeling | D. Walker | J. Waters | A. Weber | D. Wellesley | M. Whiteford | S. Widaa | S. Wilcox | D. Williams | N. Williams | G. Woods | C. Wragg | M. Wright | F. Yang | M. Yau | N.P. Carter | M. Parker | H.V. Firth | D.R. FitzPatrick | C.F. Wright | J.C. Barrett | M.E. Hurles

https://doi.org/10.1016/j.ajhg.2019.09.015 Actions

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

JOURNAL ARTICLE published April 2018 in The American Journal of Human Genetics

Authors: Andrea Angius | Paolo Uva | Insa Buers | Manuela Oppo | Alessandro Puddu | Stefano Onano | Ivana Persico | Angela Loi | Loredana Marcia | Wolfgang Höhne | Gianmauro Cuccuru | Giorgio Fotia | Manila Deiana | Mara Marongiu | Hatice Tuba Atalay | Sibel Inan | Osama El Assy | Leo M.E. Smit | Ilyas Okur | Koray Boduroglu | Gülen Eda Utine | Esra Kılıç | Giuseppe Zampino | Giangiorgio Crisponi | Laura Crisponi | Frank Rutsch

https://doi.org/10.1016/j.ajhg.2018.03.020 Actions

A Note on the Calculation of Empirical P Values from Monte Carlo Procedures

JOURNAL ARTICLE published February 2003 in The American Journal of Human Genetics

Authors: B.V. North | D. Curtis | P.C. Sham

https://doi.org/10.1086/346173 Actions

Erratum

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

https://doi.org/10.1086/341233 Actions

The 8765delAG Mutation in BRCA2 Is Common among Jews of Yemenite Extraction

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

Authors: Israela Lerer | Tieling Wang | Tamar Peretz | Michal Sagi | Luna Kaduri | Avi Orr-Urtreger | Jona Stadler | Haim Gutman | Dvorah Abeliovich

https://doi.org/10.1086/301924 Actions

A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events

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

Authors: Yoji Kukita | Koji Yahara | Tomoko Tahira | Koichiro Higasa | Miki Sonoda | Ken Yamamoto | Kiyoko Kato | Norio Wake | Kenshi Hayashi

https://doi.org/10.1016/j.ajhg.2010.05.003 Actions

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

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

Authors: F. Graeme Frost | Marie Morimoto | Prashant Sharma | Lyse Ruaud | Newell Belnap | Daniel G. Calame | Yuri Uchiyama | Naomichi Matsumoto | Machteld M. Oud | Elise A. Ferreira | Vinodh Narayanan | Sampath Rangasamy | Matt Huentelman | Lisa T. Emrick | Ikuko Sato-Shirai | Satoko Kumada | Nicole I. Wolf | Peter J. Steinbach | Yan Huang | Barbara N. Pusey | Sandrine Passemard | Jonathan Levy | Séverine Drunat | Marie Vincent | Agnès Guet | Emanuele Agolini | Antonio Novelli | Maria Cristina Digilio | Jill A. Rosenfeld | Jennifer L. Murphy | James R. Lupski | Gilbert Vezina | Ellen F. Macnamara | David R. Adams | Maria T. Acosta | Cynthia J. Tifft | William A. Gahl | May Christine V. Malicdan

https://doi.org/10.1016/j.ajhg.2023.03.001 Actions

Mutations of theSCO1Gene in Mitochondrial CytochromecOxidase Deficiency with Neonatal‐Onset Hepatic Failure and Encephalopathy

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

Authors: Isabelle Valnot | Sandrine Osmond | Nadine Gigarel | Blandine Mehaye | Jeanne Amiel | Valerie Cormier‐Daire | Arnold Munnich | Jean‐Paul Bonnefont | Pierre Rustin | Agnes Rotig

https://doi.org/10.1086/321202 Actions

Microarray Analysis of Cell-Free Fetal DNA in Amniotic Fluid: a Prenatal Molecular Karyotype

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

Authors: Paige B. Larrabee | Kirby L. Johnson | Ekaterina Pestova | Madhuri Lucas | Kim Wilber | Erik S. LeShane | Umadevi Tantravahi | Janet M. Cowan | Diana W. Bianchi

https://doi.org/10.1086/423288 Actions

MSH2 c.1452–1455delAATG Is a Founder Mutation and an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Southern Chinese Population

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

Authors: Tsun Leung Chan | Yee Wai Chan | Judy W.C. Ho | Celine Chan | Annie S.Y. Chan | Emily Chan | Polly W.Y. Lam | Chun Wah Tse | Kam Cheong Lee | Chi Wai Lau | Elaine Gwi | Suet Yi Leung | Siu Tsan Yuen

https://doi.org/10.1086/383591 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
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