American Journal of Medical Genetics Part A

Cover image for Vol. 167 Issue 4

Early View (Online Version of Record published before inclusion in an issue)

Edited By: John C. Carey

Impact Factor: 2.048

ISI Journal Citation Reports © Ranking: 2013: 107/164 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics


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  1. Clinical Report

    1. Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome

      Michaela Veronika Gonfiantini, Marco Armando, Maria Laura Pucciarini, Marina Macchiaiolo, Paola Sabrina Buonuomo, Andrea Diociaiuti, Francesca Romana Lepri, Pietro Sirleto, Stefano Vicari and Andrea Bartuli

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.37041

  2. Research Articles

  3. Research Letters

    1. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype–phenotype correlation

      Debora Bertola, Maria Rita Passos-Bueno, Alexandre Pereira, Chong Kim, Tim Morgan and Stephen P. Robertson

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.36981

  4. Clinical Reports

    1. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

      Mohammad M. Al-Qattan, Muhammed I. Al-Motairi and Mohammed A. Al Balwi

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.37040

    2. A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype

      Ulrike Kordaß, Carmen Schröder, Miriam Elbracht, Lukas Soellner and Thomas Eggermann

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.36972

  5. Invited Comments

    1. Facing up to the challenges of advancing Craniofacial Research

      Paul A. Trainor and Joan T. Richtsmeier

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.37065

  6. Research Letters

    1. Anesthesia in Cri du Chat syndrome: Information on 51 Italian patients

      Andrea Guala, Marianna Spunton, Paola Cerruti Mainardi, Uta Emmig, Gabriela Acucella and Cesare Danesino

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.36992

  7. Research Articles

    1. A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health

      Rina Cianfaglione, Angus Clarke, Mike Kerr, Richard P. Hastings, Chris Oliver and David Felce

      Article first published online: 28 MAR 2015 | DOI: 10.1002/ajmg.a.37027

  8. In Memoriam

    1. In Memoriam: S. Harvey Mudd

      Henk J. Blom, Sally Stabler and Conrad Wagner

      Article first published online: 26 MAR 2015 | DOI: 10.1002/ajmg.a.36904

  9. Rapid Communications

    1. Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

      Jacqueline D. Peacock, Karl J. Dykema, Helga V. Toriello, Marie R. Mooney, Donald J. Scholten II, Mary E. Winn, Andrew Borgman, Nicholas S. Duesbery, Judith A. Hiemenga, Cong Liu, Stacey Campbell, Brian P. Nickoloff, Bart O. Williams and Matthew Steensma

      Article first published online: 21 MAR 2015 | DOI: 10.1002/ajmg.a.37048

  10. Research Articles

    1. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome

      Esra Dikoglu, Ali Alfaiz, Maria Gorna, Deborah Bertola, Jong Hee Chae, Tae-Joon Cho, Murat Derbent, Yasemin Alanay, Tulay Guran, Ok-Hwa Kim, Juan C. Llerenar Jr, Guillerme Yamamoto, Giulio Superti-Furga, Alexandre Reymond, Ioannis Xenarios, Brian Stevenson, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga and Sheila Unger

      Article first published online: 21 MAR 2015 | DOI: 10.1002/ajmg.a.37029

    2. Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene

      Megan Beck, Jess F. Peterson, Juliann McConnell, Marianne McGuire, Miya Asato, Joseph E. Losee, Urvashi Surti, Suneeta Madan-Khetarpal, Aleksandar Rajkovic and Svetlana A. Yatsenko

      Article first published online: 21 MAR 2015 | DOI: 10.1002/ajmg.a.36839

  11. Clinical Reports

    1. FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax

      Yibing Ding, Chengchu Zhu, Wei Zou, Dehua Ma, Haiyan Min, Baofu Chen, Minhua Ye, Yanqing Pan, Lei Cao, Yueming Wan, Wenwen Zhang, Lulu Meng, Yuna Mei, Chi Yang, Shilin Chen, Qian Gao and Long Yi

      Article first published online: 21 MAR 2015 | DOI: 10.1002/ajmg.a.36979

  12. Review Articles

    1. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

      Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

      Article first published online: 19 MAR 2015 | DOI: 10.1002/ajmg.a.36934

  13. Research Articles

    1. Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans

      Zhonglin Jia, Elizabeth J. Leslie, Margaret E. Cooper, Azeez Butali, Jennifer Standley, Jennifer Rigdon, Satoshi Suzuki, Ayana Gongorjav, T. Enkhtur Shonkhuuz, Nagato Natsume, Bing Shi, Mary L. Marazita and Jeffrey C. Murray

      Article first published online: 18 MAR 2015 | DOI: 10.1002/ajmg.a.36912

    2. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype

      Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Hamed A. El-Khayat, Ola M. Eid, Soliman Saba, Mona K. Farag, Sahar N. Saleem and Khaled R. Gaber

      Article first published online: 10 MAR 2015 | DOI: 10.1002/ajmg.a.37010

  14. Article

    1. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3

      Katherine G. Langley, Steven Trau, Lora J. H. Bean, Alekhya Narravula and Samantha A. Schrier Vergano

      Article first published online: 8 MAR 2015 | DOI: 10.1002/ajmg.a.36970

  15. Research Articles

    1. Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care

      Tatiana Tvrdik, Debbie Mason, Karin M Dent, Lisa Thornton, Sidney N hornton, David H Viskochil and David A Stevenson

      Article first published online: 8 MAR 2015 | DOI: 10.1002/ajmg.a.36971

    2. Speech and language in a genotyped cohort of individuals with Kabuki syndrome

      Angela T. Morgan, Cristina Mei, Annette Da Costa, Joanne Fifer, Damien Lederer, Valérie Benoit, Margaret J. McMillin, Kati J. Buckingham, Michael J. Bamshad, Kate Pope and Susan M. White

      Article first published online: 8 MAR 2015 | DOI: 10.1002/ajmg.a.37026

  16. Research Letters

    1. CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures

      Umut Aypar, Elaine C. Wirrell and Nicole L. Hoppman

      Article first published online: 5 MAR 2015 | DOI: 10.1002/ajmg.a.36902

  17. Clinical Reports

    1. Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology

      Wendy R. Uhlmann, Maria S. Peñaherrera, Wendy P. Robinson, Jeff M. Milunsky, Jane M. Nicholson and Roger L. Albin

      Article first published online: 3 MAR 2015 | DOI: 10.1002/ajmg.a.37009

  18. Research Articles

    1. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

      David D. Weaver, Audrey R. Norby, Jill A. Rosenfeld, Virginia K. Proud, Brooke E. Spangler, Jeffrey E. Ming, Elizabeth Chisholm, Elaine H. Zackai, Beom Hee Lee, Lisa Edelmann and Robert J. Desnick

      Article first published online: 27 FEB 2015 | DOI: 10.1002/ajmg.a.36973

    2. Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1)

      Jung Min Ko, Jun-Seok Bae, Jin Sun Choi, Kohji Miura, Hye Ran Lee, Ok-Hwa Kim, Nayoung KD Kim, Sun Kyung Oh, Keiichi Ozono, Choon-Ki Lee, In Ho Choi, Woong-Yang Park and Tae-Joon Cho

      Article first published online: 27 FEB 2015 | DOI: 10.1002/ajmg.a.36884

  19. Erratum

    1. You have free access to this content
      Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

      Fleur S van Dijk and David O Sillence

      Article first published online: 27 FEB 2015 | DOI: 10.1002/ajmg.a.36784

      This article corrects:

      Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

      Vol. 164, Issue 6, 1470–1481, Article first published online: 8 APR 2014

  20. Research Articles

    1. Genetic causes of intellectual disability in a birth cohort: A population-based study

      Simone M. Karam, Mariluce Riegel, Sandra L. Segal, Têmis M. Félix, Aluísio J.D. Barros, Iná S. Santos, Alicia Matijasevich, Roberto Giugliani and Maureen Black

      Article first published online: 27 FEB 2015 | DOI: 10.1002/ajmg.a.37011

    2. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome

      Yoshie Nakamura, Masaki Takagi, Hiroshi Yoshihashi, Masaru Miura, Satoshi Narumi, Tomonobu Hasegawa, Yoshishige Miyake and Yukihiro Hasegawa

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36996

    3. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

      Nicolas Chatron, Véronique Haddad, Joris Andrieux, Julie Désir, Odile Boute, Anne Dieux, Clarisse Baumann, Séverine Drunat, Marion Gérard, Céline Bonnet, Bruno Leheup, Marianne Till, Massimiliano Rossi, Elisabeth Flori, Yves Alembik, Helen Stewart, Joanna McParland, Laura Bernardini, Pia Castelluccio, Laura Roos, Zeynep Tümer, Kerry Fagan, Anna Hackett, Nicole Bain, Arie van Haeringen, Claudia Ruivenkamp, Brigitte Benzacken, Damien Sanlaville, Patrick Edery, Azzedine Aboura and Caroline Schluth-Bolard

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36856

    4. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

      Fe Amalia García-Santiago, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Elena Mansilla, Antonio González Meneses, Jordi Rosell, Ángeles Pérez Granero, Elena Vallespín, Luis Fernández, Blanca Sierra, María Oliver-Bonet, María Palomares, María Luisa de Torres, María Ángeles Mori, Julián Nevado, Karen E. Heath, Alicia Delicado and Pablo Lapunzina

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36879

    5. MEIS2 involvement in cardiac development, cleft palate, and intellectual disability

      Jacoba J. Louw, Anniek Corveleyn, Yaojuan Jia, Greet Hens, Marc Gewillig and Koenraad Devriendt

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36989

    6. Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997–2009

      Adrian M. Michalski, Sandra D. Richardson, Marilyn L. Browne, Suzan L. Carmichael, Mark A. Canfield, Alissa R. VanZutphen, Marlene T. Anderka, Elizabeth G. Marshall and Charlotte M. Druschel

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36865

  21. Clinical Reports

    1. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

      Mariko Okubo, Atsushi Fujita, Yoshiaki Saito, Hirofumi Komaki, Akihiko Ishiyama, Eri Takeshita, Emiko Kojima, Reiko Koichihara, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Hiroko Yamazaki, Kei Kusaka, Hiroshi Tanaka, Noriko Miyake, Naomichi Matsumoto and Masayuki Sasaki

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36881

  22. Research Articles

    1. Etiology of non-immune hydrops fetalis: An update

      Carlo Bellini, Gloria Donarini, Dario Paladini, Maria Grazia Calevo, Tommaso Bellini, Luca A Ramenghi and Raoul C Hennekam

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36988

  23. Clinical Reports

    1. Expanding the phenotypic spectrum in EP300-related Rubinstein–Taybi syndrome

      Benjamin D. Solomon, Dale L. Bodian, Alina Khromykh, Gabriela Gomez Mora, Brendan C. Lanpher, Ramaswamy K. Iyer, Rajiv Baveja, Joseph G. Vockley and John E. Niederhuber

      Article first published online: 25 FEB 2015 | DOI: 10.1002/ajmg.a.36883

    2. Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

      Violeta Mikstiene, Jurgita Songailiene, Jekaterina Byckova, Giedre Rutkauskiene, Edita Jasinskiene, Rasa Verkauskiene, Eugenijus Lesinskas and Algirdas Utkus

      Article first published online: 23 FEB 2015 | DOI: 10.1002/ajmg.a.37015

  24. Research Articles

    1. Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features

      Ellaine Carvalho, Rachel Honjo, Monize Magalhães, Guilherme Yamamoto, Katia Rocha, Michel Naslavsky, Mayana Zatz, Maria Rita Passos-Bueno, Chong Kim and Debora Bertola

      Article first published online: 7 FEB 2015 | DOI: 10.1002/ajmg.a.36789

  25. Correspondences

    1. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

      Katy Phelan, Luigi Boccuto, R. Curtis Rogers, Sara M. Sarasua and Heather E. McDermid

      Article first published online: 25 SEP 2014 | DOI: 10.1002/ajmg.a.36788

  26. Clinical Reports

    1. Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

      Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

      Article first published online: 29 MAR 2013 | DOI: 10.1002/j.1552-4833.2013.35918.x


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