American Journal of Medical Genetics Part A

Cover image for Vol. 170 Issue 5

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


  1. 1 - 83
  1. Clinical Reports

    1. Rapid clinical deterioration in an individual with Down syndrome

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

      Article first published 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37680

  2. 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37690

  3. 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37691

  4. 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37720

  5. Original Articles

  6. 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37726

  7. 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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37728

  8. In Memoriams

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

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

      Article first published online: 5 MAY 2016 | DOI: 10.1002/ajmg.a.37729

  9. Original Articles

  10. Corrigendum

  11. Clinical Reports

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

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

      Article first published online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37666

  12. 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

      Article first published online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37682

  13. Rapid Communications

  14. 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

      Article first published online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37687

  15. 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

      Article first published online: 4 MAY 2016 | DOI: 10.1002/ajmg.a.37692

  16. Clinical Reports

  17. 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

      Article first published online: 3 MAY 2016 | DOI: 10.1002/ajmg.a.37683

  18. 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

      Article first published 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

      Article first published 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

      Article first published online: 29 APR 2016 | DOI: 10.1002/ajmg.a.37673

  19. 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

      Article first published online: 29 APR 2016 | DOI: 10.1002/ajmg.a.37694

    2. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders

      Fatma Abdelhedi, Laila El Khattabi, Nouha Essid, Geraldine Viot, Dominique Letessier, Aziza Lebbar and Jean-Michel Dupont

      Article first published online: 27 APR 2016 | DOI: 10.1002/ajmg.a.37686

  20. Conference Reports

    1. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

      Karen W. Gripp, Margaret P. Adam, Louanne Hudgins and John C. Carey

      Article first published online: 27 APR 2016 | DOI: 10.1002/ajmg.a.37600

  21. Original Articles

    1. Lack of mutation–histopathology correlation in a patient with Proteus syndrome

      Meggie E. Doucet, Hadley M. Bloomhardt, Krzysztof Moroz, Marjorie J. Lindhurst and Leslie G. Biesecker

      Article first published online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37612

    2. 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

      Article first published online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37658

    3. 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

      Article first published online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37668

  22. 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

      Article first published online: 26 APR 2016 | DOI: 10.1002/ajmg.a.37675

  23. 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

      Article first published online: 25 APR 2016 | DOI: 10.1002/ajmg.a.37649

  24. 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

      Article first published online: 25 APR 2016 | DOI: 10.1002/ajmg.a.37657

  25. Research Letters

  26. 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

      Article first published online: 22 APR 2016 | DOI: 10.1002/ajmg.a.37651

  27. 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

      Article first published online: 22 APR 2016 | DOI: 10.1002/ajmg.a.37655

  28. 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

      Article first published 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

      Article first published 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

      Article first published online: 15 APR 2016 | DOI: 10.1002/ajmg.a.37662

  29. New Syndrome

  30. Clinical Reports

    1. 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

      Article first published online: 13 APR 2016 | DOI: 10.1002/ajmg.a.37653

  31. Original Articles

    1. Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial

      Gail A. Spiridigliozzi, Sarah J. Hart, James H. Heller, Heather E. Schneider, Jane Ann Baker, Cathleen Weadon, George T. Capone and Priya S. Kishnani

      Article first published online: 8 APR 2016 | DOI: 10.1002/ajmg.a.37650

  32. Clinical Reports

    1. Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts

      Kathleen E. Sullivan, Evanette Burrows and Donna M. McDonald McGinn

      Article first published online: 8 APR 2016 | DOI: 10.1002/ajmg.a.37648

    2. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism

      Francesca Mattioli, Amelie Piton, Bénédicte Gérard, Andrea Superti-Furga, Jean-Louis Mandel and Sheila Unger

      Article first published online: 7 APR 2016 | DOI: 10.1002/ajmg.a.37645

  33. Original Articles

    1. Do patients with tuberous sclerosis complex have an increased risk for malignancies?

      Angela Peron, Aglaia Vignoli, Francesca La Briola, Angela Volpi, Emanuele Montanari, Emanuela Morenghi, Filippo Ghelma, Gaetano Bulfamante, Graziella Cefalo and Maria Paola Canevini

      Article first published online: 7 APR 2016 | DOI: 10.1002/ajmg.a.37644

  34. Book Reviews

  35. Original Articles

    1. KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1

      Bijal Vyas, Ratna D. Puri, Narayanan Namboodiri, Mohan Nair, Deepak Sharma, Sireesha Movva, Renu Saxena, Shomu Bohora, Neeraj Aggarwal, Amit Vora, Jatinder Kumar, Tarandeep Singh and Ishwar C. Verma

      Article first published online: 4 APR 2016 | DOI: 10.1002/ajmg.a.37636

  36. Clinical Reports

  37. Original Articles

    1. Nutritional aspects of Noonan syndrome and Noonan-related disorders

      Fernanda Marchetto da Silva, Alexander Augusto Jorge, Alexandra Malaquias, Alexandre da Costa Pereira, Guilherme Lopes Yamamoto, Chong Ae Kim and Debora Bertola

      Article first published online: 1 APR 2016 | DOI: 10.1002/ajmg.a.37639

  38. Research Letters

    1. Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

      Małgorzata Krajewska-Walasek, Dorota Jurkiewicz, Dorota Piekutowska-Abramczuk, Marzena Kucharczyk, Krystyna H. Chrzanowska, Aleksandra Jezela-Stanek and Elżbieta Ciara

      Article first published online: 31 MAR 2016 | DOI: 10.1002/ajmg.a.37641

  39. Original Articles

  40. Clinical Reports

    1. De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

      Pu Yang, Hu Tan, Yan Xia, Qian Yu, Xianda Wei, Ruolan Guo, Ying Peng, Chen Chen, Haoxian Li, Libin Mei, Yanru Huang, Desheng Liang and Lingqian Wu

      Article first published online: 30 MAR 2016 | DOI: 10.1002/ajmg.a.37634

    2. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1

      Amanda S. Lindy, Monica J. Basehore, Mumingjiang Munisha, Aimee Leanne Williams, Michael J. Friez, Karin Writzl, Patrick Willems and Scott T. Dougan

      Article first published online: 30 MAR 2016 | DOI: 10.1002/ajmg.a.37609

  41. Research Letters

  42. Original Articles

    1. Apert and Crouzon syndromes—cognitive development, brain abnormalities, and molecular aspects

      Marilyse B. L. Fernandes, Luciana P. Maximino, Gimol B. Perosa, Dagma V. M. Abramides, Maria Rita Passos-Bueno and Adriano Yacubian-Fernandes

      Article first published online: 30 MAR 2016 | DOI: 10.1002/ajmg.a.37640

  43. Invited Comments

  44. Research Articles

    1. Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy

      Staci Martin, Pamela L. Wolters, Mary Anne Toledo-Tamula, Shawn Nelson Schmitt, Andrea Baldwin, Amy Starosta, Andrea Gillespie and Brigitte Widemann

      Article first published online: 29 MAR 2016 | DOI: 10.1002/ajmg.a.37623

  45. Clinical Report

    1. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

      Isabelle Thiffault, Emily Farrow, Laurie Smith, Jennifer Lowry, Lee Zellmer, Benjamin Black, Ahmed Abdelmoity, Neil Miller, Sarah Soden and Carol Saunders

      Article first published online: 26 MAR 2016 | DOI: 10.1002/ajmg.a.37617

  46. Genetic Drift

  47. Original Articles

    1. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy

      Christina Evers, Lilian Kaufmann, Angelika Seitz, Nagarajan Paramasivam, Martin Granzow, Stephanie Karch, Christine Fischer, Katrin Hinderhofer, Georg Gdynia, Michael Elsässer, Stefan Pinkert, Matthias Schlesner, Claus R. Bartram and Ute Moog

      Article first published online: 26 MAR 2016 | DOI: 10.1002/ajmg.a.37632

    2. Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation

      Chiara Leoni, Christopher T. Gordon, Giacomo Della Marca, Valentina Giorgio, Roberta Onesimo, Francesca Perrino, Alessandro Cianfoni, Antonella Cerchiari, Jeanne Amiel and Giuseppe Zampino

      Article first published online: 23 MAR 2016 | DOI: 10.1002/ajmg.a.37625

  48. Research Letters

    1. Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

      Peter Witters, Luc Régal, Hans R. Waterham, Linda De Meirleir, Ronald J. A. Wanders and Eva Morava

      Article first published online: 23 MAR 2016 | DOI: 10.1002/ajmg.a.37628

  49. Clinical Reports

    1. Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case

      Yong-jia Yang, Xu Yao, Jihong Guo, Liu Zhao, Ming Tu, Jun Qiou, Rui Zhao, Yongqi Luo and Yi-min Zhu

      Article first published online: 23 MAR 2016 | DOI: 10.1002/ajmg.a.37618

    2. Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation

      Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Stephen Abbs and Soo-Mi Park

      Article first published online: 21 MAR 2016 | DOI: 10.1002/ajmg.a.37631

  50. Correspondences

  51. Clinical Reports

    1. The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

      Angela Pipitone, Donna B. Raval, Jessica Duis, Hilary Vernon, Regina Martin, Ada Hamosh, David Valle and Meral Gunay-Aygun

      Article first published online: 21 MAR 2016 | DOI: 10.1002/ajmg.a.37620

  52. Original Articles

    1. Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss

      Allan Bayat, Igor Fijalkowski, Tobias Andersen, Sura Azhar Abdulmunem, Jenneke van den Ende and Wim Van Hul

      Article first published online: 20 MAR 2016 | DOI: 10.1002/ajmg.a.37626

    2. Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion

      Amaya Bengoa-Alonso, Mercè Artigas-López, María Moreno-Igoa, Claudio Cattalli, Blanca Hernández-Charro and Maria Antonia Ramos-Arroyo

      Article first published online: 17 MAR 2016 | DOI: 10.1002/ajmg.a.37614

  53. Clinical Reports

    1. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

      Lucia Sentchordi Montané, Oliver R. Marín, Carlos I. Rivera-Pedroza, Elena Vallespín, Ángela del Pozo and Karen E. Heath

      Article first published online: 17 MAR 2016 | DOI: 10.1002/ajmg.a.37619

    2. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

      Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman, Vardiella Meiner and Ann Saada

      Article first published online: 17 MAR 2016 | DOI: 10.1002/ajmg.a.37624

  54. Original Articles

    1. Oblique facial clefts in Johanson–Blizzard syndrome

      Jorge Román Corona-Rivera, Eugenio Zapata-Aldana, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Elizabeth Solis-Hernández, Celina Guzmán, Erick Richmond, Christian Zahl, Martin Zenker and Maja Sukalo

      Article first published online: 17 MAR 2016 | DOI: 10.1002/ajmg.a.37630

  55. Research Letters

  56. Original Articles

    1. Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1

      Roy E. Strowd III, Fausto J. Rodriguez, Roger E. McLendon, James J. Vredenburgh, Aaron B. Chance, George Jallo, Alessandro Olivi, Edward S. Ahn and Jaishri O. Blakeley

      Article first published online: 14 MAR 2016 | DOI: 10.1002/ajmg.a.37622

    2. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

      Colleen F. Macmurdo, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, Jenny Le, Matthew B. Wallenstein, Carlos Milla, Joyce M. C. Teng, Jonathan A. Bernstein and David A. Stevenson

      Article first published online: 11 MAR 2016 | DOI: 10.1002/ajmg.a.37613

  57. Clinical Reports

    1. Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review

      Christopher A. Tan, Marina Rabideau, Amy Blevins, Marjorie Jody Westbrook, Tali Ekstein, Keith Nykamp, Anne Deucher, Amy Harper and Laurie Demmer

      Article first published online: 8 MAR 2016 | DOI: 10.1002/ajmg.a.37611

    2. Hypertrophic neuropathy in Noonan syndrome with multiple lentigines

      Claire Maridet, Guilhem Sole, Fanny Morice-Picard and Alain Taieb

      Article first published online: 7 MAR 2016 | DOI: 10.1002/ajmg.a.37601

  58. Conference Reports

    1. Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015

      Abdallah F. Elias and John M. Opitz

      Article first published online: 4 MAR 2016 | DOI: 10.1002/ajmg.a.37599

  59. Original Articles

    1. Further defining the phenotypic spectrum of B4GALT7 mutations

      Claire G. Salter, Justin H. Davies, Rebecca J. Moon, Joanna Fairhurst, David Bunyan, DDD Study and Nicola Foulds

      Article first published online: 4 MAR 2016 | DOI: 10.1002/ajmg.a.37604

  60. Clinical Reports

    1. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia

      Marijn F. Stokman, Machteld M. Oud, Ellen van Binsbergen, Gisela G. Slaats, Nayia Nicolaou, Kirsten Y. Renkema, Isaac J. Nijman, Ronald Roepman, Rachel H. Giles, Heleen H. Arts, Nine V. A. M. Knoers and Mieke M. van Haelst

      Article first published online: 19 FEB 2016 | DOI: 10.1002/ajmg.a.37598

  61. Research Articles

    1. You have free access to this content
      Clinical audit of genetic testing and referral patterns for fragile X and associated conditions

      Megan Cotter, Alison D. Archibald, Belinda J. McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen and Sylvia A. Metcalfe

      Article first published online: 18 FEB 2016 | DOI: 10.1002/ajmg.a.37603

  62. Original Articles

    1. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy

      Anita Hiippala, Catalina Vasilescu, Jonna Tallila, Tero-Pekka Alastalo, Anders Paetau, Tiina Tyni, Anu Suomalainen, Liliya Euro and Tiina Ojala

      Article first published online: 17 FEB 2016 | DOI: 10.1002/ajmg.a.37596


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