American Journal of Medical Genetics Part A

Cover image for Vol. 170 Issue 6

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

Edited By: John C. Carey

Impact Factor: 2.159

ISI Journal Citation Reports © Ranking: 2014: 104/167 (Genetics & Heredity)

Online ISSN: 1552-4833

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


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  1. Research Articles

    1. Higher plasma orexin A levels in children with Prader–Willi syndrome compared with healthy unrelated sibling controls

      Ann M. Manzardo, Lisa Johnson, Jennifer L. Miller, Daniel J. Driscoll and Merlin G. Butler

      Version of Record online: 23 MAY 2016 | DOI: 10.1002/ajmg.a.37749

  2. Clinical Reports

  3. Original Articles

    1. Is the diagnostic yield influenced by the indication for fetal autopsy?

      Ratna Dua Puri, Udhaya Kotecha, Meena Lall, Pratima Dash, Sunita Bijarnia-Mahay and Ishwar Chander Verma

      Version of Record online: 20 MAY 2016 | DOI: 10.1002/ajmg.a.37743

    2. Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

      Beatrice De Maria, Laura Mazzanti, Nathalie Roche and Raoul C. Hennekam

      Version of Record online: 19 MAY 2016 | DOI: 10.1002/ajmg.a.37757

  4. Clinical Reports

    1. Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro–Cardio–Facial syndrome

      Anju Shukla, Malavika Hebbar, Frederike L. Harms, Rajagopal Kadavigere, Katta M. Girisha and Kerstin Kutsche

      Version of Record online: 18 MAY 2016 | DOI: 10.1002/ajmg.a.37759

    2. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

      Karen W. Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A. Napoli, Gregory C. Griffin, Mihir Thacker, Rachel G. Knox, Graeme R. Clark, Victoria E. R. Parker, Robert Semple, Ghayda Mirzaa and Kim M. Keppler-Noreuil

      Version of Record online: 18 MAY 2016 | DOI: 10.1002/ajmg.a.37758

  5. Original Articles

  6. Research Letters

    1. The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

      Laura Papetti, Livia Schettini, Giacomo Garone, Elena Gennaro, Michela Malacarne, Enrico Properzi and Alberto Spalice

      Version of Record online: 17 MAY 2016 | DOI: 10.1002/ajmg.a.37753

  7. Clinical Reports

    1. Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation

      Angela M. Kelle, S. Jared Bentley, Luis O. Rohena, Allison K. Cabalka and Timothy M. Olson

      Version of Record online: 13 MAY 2016 | DOI: 10.1002/ajmg.a.37745

  8. Genetic Drift

  9. Correspondence

  10. Clinical Reports

    1. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

      Weimin Bi, Ian A. Glass, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Yaping Yang and Angela Sun

      Version of Record online: 12 MAY 2016 | DOI: 10.1002/ajmg.a.37727

  11. Research Letters

    1. A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

      Mathew J. Wallis, Amanda L. Kelly, Gregory B. Peters, Luke St Heaps, Adayapalam Nandini and Julie M. McGaughran

      Version of Record online: 9 MAY 2016 | DOI: 10.1002/ajmg.a.37689

  12. Others

    1. The natural history of a clinical geneticist

      Małgorzata J. Nowaczyk

      Version of Record online: 9 MAY 2016 | DOI: 10.1002/ajmg.a.37732

  13. Original Articles

  14. Others

  15. Conference Reports

    1. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

      David A. Stevenson, Lisa Schill, Lisa Schoyer, Brage S. Andresen, Annette Bakker, Pinar Bayrak-Toydemir, Emma Burkitt-Wright, Kathryn Chatfield, Florent Elefteriou, Ype Elgersma, Michael J. Fisher, David Franz, Bruce D. Gelb, Anne Goriely, Karen W. Gripp, Antonio Y. Hardan, Kim M. Keppler-Noreuil, Bronwyn Kerr, Bruce Korf, Chiara Leoni, Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh and Brigitte C. Widemann

      Version of Record online: 7 MAY 2016 | DOI: 10.1002/ajmg.a.37723

  16. Research Letters

    1. Trisomy 13 and gallbladder agenesis

      Rafael F. M. Rosa, Elisa P. E. Correia, Victória B. Guimarães, Júlia S. Trombetta, Luciana A. Beltrão, Karen L. P. Lliguin, Vinicius Freitas de Mattos, Rosana C. M. Rosa and Paulo R. G. Zen

      Version of Record online: 7 MAY 2016 | DOI: 10.1002/ajmg.a.37671

    2. You have full text access to this OnlineOpen article
      Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

      Ho-Ming Luk, Fai-Man Ivan Lo, Shinichiro Sano, Keiko Matsubara, Akie Nakamura, Tsutomu Ogata and Masayo Kagami

      Version of Record online: 6 MAY 2016 | DOI: 10.1002/ajmg.a.37679

  17. Original Articles

    1. KCNK9 imprinting syndrome—further delineation of a possible treatable disorder

      John M. Graham Jr., Neda Zadeh, Melissa Kelley, Ee Shien Tan, Wendy Liew, Victoria Tan, Matthew A. Deardorff, Golder N. Wilson, Lena Sagi-Dain and Stavit A. Shalev

      Version of Record online: 6 MAY 2016 | DOI: 10.1002/ajmg.a.37740

  18. Clinical Reports

    1. You have free access to this content
      Rapid clinical deterioration in an individual with Down syndrome

      Julia Jacobs, Alison Schwartz, Christopher J. McDougle and Brian G. Skotko

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37674

    2. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

      Paul Dimitri, Elisa De Franco, Abdelhadi M. Habeb, Fatih Gurbuz, Khairya Moussa, Doris Taha, Jerry K. H. Wales, Jacob Hogue, Anne Slavotinek, Ambika Shetty and Meena Balasubramanian

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37680

  19. Original Articles

    1. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family

      Ahmed Al-Amri, Abeer Al Saegh, Watfa Al-Mamari, Mohammed E. El-Asrag, Jose L. Ivorra, Alastair G. Cardno, Chris F. Inglehearn, Steven J. Clapcote and Manir Ali

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37690

  20. Clinical Reports

    1. 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype

      Mattia Gentile, Delia De Mattia, Angela Pansini, Federico Schettini, Antonia Lucia Buonadonna, Manuela Capozza, Romina Ficarella and Nicola Laforgia

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37691

  21. Orginal Articles

    1. Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients

      Stephanie M. Cologna, Christine Shieh, Cynthia L. Toth, Antony Cougnoux, Kathryn R. Burkert, Simona E. Bianconi, Christopher A. Wassif and Forbes D. Porter

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37720

  22. Original Articles

  23. Research Letters

    1. First clinical report of an infant with microcephaly and CASC5 mutations

      Yuri A. Zarate, Julie A. Kaylor, Katherine Bosanko, Sarah Lau, Jose Vargas and Hanlin Gao

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37726

  24. Original Articles

    1. Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review

      Chiara Dordoni, Claudia Ciaccio, Marina Venturini, Piergiacomo Calzavara-Pinton, Marco Ritelli and Marina Colombi

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37728

  25. In Memoriams

    1. In memory of Murray Feingold (1930–2015)

      G. Bradley Schaefer, Catherine Bearce Nowak and Ann Haskins Olney

      Version of Record online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37729

  26. Original Articles

  27. Corrigendum

  28. Clinical Reports

    1. Is 1p36 deletion associated with anterior body wall defects?

      Medis Çöllü, Şirin Yüksel, Başak Kumbasar Şirin, Latif Abbasoğlu and Yasemin Alanay

      Version of Record online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37666

  29. Original Articles

    1. Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis

      Markus Vogel, Eunike Velleuer, Leon F. Schmidt-Jiménez, Ertan Mayatepek, Arndt Borkhardt, Malik Alawi, Kerstin Kutsche and Fanny Kortüm

      Version of Record online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37682

  30. Rapid Communications

  31. Research Letters

    1. Death from supine asphyxia in late onset pompe disease: Two patients

      Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Dwight Koeberl and Priya S. Kishnani

      Version of Record online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37687

  32. Original Articles

    1. Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome

      Annemarie Vesseur, Margreet Langereis, Rolien Free, Ad Snik, Conny van Ravenswaaij-Arts and Emmanuel Mylanus

      Version of Record online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37692

  33. Clinical Reports

  34. Research Letters

    1. Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

      Oscar F. Chacón-Camacho, Nara Sobreira, Jing You, Raul E. Piña-Aguilar, Vanessa Villegas-Ruiz and Juan C. Zenteno

      Version of Record online: 3 MAY 2016 | DOI: 10.1002/ajmg.a.37683

  35. Original Articles

    1. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

      Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke Smith, Brad Angle, Victoria Roberts, LaDonna Immken, Honey Nagakura, Marc DiFazio, Elliott Sherr, Eden Haverfield, Bethany Friedman, Aida Telegrafi, Jane Juusola, Wendy K. Chung and Sherri Bale

      Version of Record online: 2 MAY 2016 | DOI: 10.1002/ajmg.a.37670

    2. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

      Christine M. Armour, Amanda Smith, Taila Hartley, Jodi Warman Chardon, Sarah Sawyer, Jeremy Schwartzentruber, Raoul Hennekam, Jacek Majewski, Dennis E. Bulman, FORGE Canada Consortium, Mohnish Suri and Kym M. Boycott

      Version of Record online: 2 MAY 2016 | DOI: 10.1002/ajmg.a.37684

    3. You have full text access to this OnlineOpen article
    4. Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

      Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem and Linda De Meirleir

      Version of Record online: 29 APR 2016 | DOI: 10.1002/ajmg.a.37673

  36. Clinical Reports

    1. Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissection

      Alan C. Braverman, Marc R. Moon, Patrick Geraghty, Marcia Willing, Christopher Bach and Nicholas T. Kouchoukos

      Version of Record online: 29 APR 2016 | DOI: 10.1002/ajmg.a.37694

  37. Conference Reports

  38. Original Articles

    1. Three cases of Troyer syndrome in two families of Filipino descent

      Shauna Butler, Katherine L. Helbig, Wendy Alcaraz, Laurie H. Seaver, David T. Hsieh and Luis Rohena

      Version of Record online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37658

    2. Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome

      Allyson E. Somers, Robert B. Hinton, Valentina Pilipenko, Erin Miller and Stephanie M. Ware

      Version of Record online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37668

  39. Clinical Reports

    1. Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

      Mariana Soeiro e Sá, Oana Moldovan and Ana Berta Sousa

      Version of Record online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37675

  40. Original Articles

    1. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

      Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo, Eleonora Di Gregorio, Elga Fabia Belligni, Alessandro Calcia, Elena Gaidolfi, Alessandro Bruselles, Cecilia Mancini, Simona Cavalieri, Cristina Molinatto, Margherita Cirillo Silengo, Giovanni Battista Ferrero, Marco Tartaglia and Alfredo Brusco

      Version of Record online: 25 APR 2016 | DOI: 10.1002/ajmg.a.37649

  41. Clinical Reports

    1. Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

      Doris Milosavljević, Eline Overwater, Saskia Tamminga, Karin de Boer, Mariet W. Elting, Marion E. van Hoorn, Tuula Rinne and Arjan C. Houweling

      Version of Record online: 25 APR 2016 | DOI: 10.1002/ajmg.a.37657

  42. Research Letters

  43. Conference Reports

    1. The society for craniofacial genetics and developmental biology 38th annual meeting

      Lisa A. Taneyhill, Julie Hoover-Fong, Scott Lozanoff, Ralph Marcucio, Joan T. Richtsmeier and Paul A. Trainor

      Version of Record online: 22 APR 2016 | DOI: 10.1002/ajmg.a.37651

  44. Original Articles

    1. Respiratory system involvement in Costello syndrome

      Natalia Gomez-Ospina, Christin Kuo, Amitha Lakshmi Ananth, Angela Myers, Marie-Luise Brennan, David A. Stevenson, Jonathan A. Bernstein and Louanne Hudgins

      Version of Record online: 22 APR 2016 | DOI: 10.1002/ajmg.a.37655

  45. Clinical Reports

    1. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

      Nicolas Chassaing, Nicola Ragge, Julie Plaisancié, Oliver Patat, David Geneviève, François Rivier, Claudie Malrieu-Eliaou, Christian Hamel, Josseline Kaplan and Patrick Calvas

      Version of Record online: 22 APR 2016 | DOI: 10.1002/ajmg.a.37667

    2. COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse

      Yuri A. Zarate, Rachel Clingenpeel, Elizabeth A. Sellars, Xinyu Tang, Julie A. Kaylor, Katherine Bosanko, Leann E. Linam and Peter H. Byers

      Version of Record online: 19 APR 2016 | DOI: 10.1002/ajmg.a.37664

    3. Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation

      Tsukasa Ishiwata, Nobuhiro Tanabe, Ayako Shigeta, Hajime Yokota, Kenji Tsushima, Jiro Terada, Seiichiro Sakao, Hiroko Morisaki, Takayuki Morisaki and Koichiro Tatsumi

      Version of Record online: 15 APR 2016 | DOI: 10.1002/ajmg.a.37662

    4. Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome

      Ikumi Hori, Fuyuki Miya, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Naoki Ando, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki and Shinji Saitoh

      Version of Record online: 13 APR 2016 | DOI: 10.1002/ajmg.a.37653

  46. Correspondences


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