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  American Journal of Medical Genetics Part A: Volume 179, Issue 10

  Pages: 1903-2157

  October 2019

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COVER IMAGE

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Cover Image, Volume 179A, Number 10, October 2019

• First Published: 10 September 2019

Cover Image © Andrey Prokhorov/iStockphoto.

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ISSUE INFORMATION

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Table of Contents, Volume 179A, Number 10, October 2019

• Pages: 1903-1906
• First Published: 10 September 2019

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Publication schedule for 2019

• Page: 1907
• First Published: 10 September 2019

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THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY ROXANNE NELSON

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Birth Defects Associated with Higher Risk of Childhood Cancers: Forty specific birth defect–childhood cancer associations were identified as statistically significant

• Pages: 1908-1909
• First Published: 10 September 2019

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Psychosocial Risks Minimal with Genetic Testing

• Pages: 1909-1910
• First Published: 10 September 2019

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In This Issue

• Page: 1911
• First Published: 10 September 2019

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ORIGINAL ARTICLES

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Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

Muriel de La Dure-Molla,  Benjamin Philippe Fournier,  Maria Cristina Manzanares,  Ana Carolina Acevedo,  Raoul C. Hennekam,  Lisa Friedlander,  Marie-Laure Boy-Lefèvre,  Stephane Kerner,  Steve Toupenay,  Pascal Garrec,  Brigite Vi-Fane,  Rufino Felizardo,  Marie-Violaine Berteretche,  Laurence Jordan,  François Ferré,  François Clauss,  Sophie Jung,  Myriam de Chalendar,  Sebastien Troester,  Marzena Kawczynski,  Jessica Chaloyard,  International Group of Dental Nomenclature ,  Marie Cécile Manière,  Ariane Berdal,  Agnès Bloch-Zupan, 

• Pages: 1913-1981
• First Published: 29 August 2019

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Objective measures of sleep disturbances in children with Potocki–Lupski syndrome

Kevin Kaplan,  Caroline McCool,  James R. Lupski,  Daniel Glaze,  Lorraine Potocki, 

• Pages: 1982-1986
• First Published: 24 July 2019

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GENETIC SYNDROMES IN ADULTS

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Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Angela E. Lin,  Siddharth K. Prakash,  Niels H. Andersen,  Mette H. Viuff,  Lynne L. Levitsky,  Michelle Rivera-Davila,  Melissa L. Crenshaw,  Lars Hansen,  Mary K. Colvin,  Frances J. Hayes,  Evelyn Lilly,  Emma A. Snyder,  Shahla Nader-Eftekhari,  Melissa B. Aldrich,  Ami B. Bhatt,  Laura M. Prager,  Ana Arenivas,  Anne Skakkebaek,  Marcie A. Steeves,  Jeffrey B. Kreher,  Claus H. Gravholt, 

• Pages: 1987-2033
• First Published: 16 August 2019

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CASE REPORTS IN DIVERSE POPULATIONS

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Ellis-van Creveld syndrome in a patient from Tanzania

Marieke C. J. Dekker,  Adnan M. Sadiq,  Mubashir A. Jusabani,  Vivian J. Mdavire,  Frank Baas,  David H. Morton,  Ben C. J. Hamel, 

• Pages: 2034-2038
• First Published: 26 July 2019

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Lenz–Majewski syndrome in a patient from Egypt

Hanan H. Afifi,  Mohamed S. Abdel-Hamid,  Mennat I. Mehrez,  Ghada El-Kamah,  Ghada M. H. Abdel-Salam, 

• Pages: 2039-2042
• First Published: 12 August 2019

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Coffin–Lowry syndrome in Chinese

Jasmine L. F. Fung,  Kavitha Rethanavelu,  Ho-ming Luk,  Matthew S. P. Ho,  Ivan F. M. Lo,  Brian H. Y. Chung, 

• Pages: 2043-2048
• First Published: 09 August 2019

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RAPID COMMUNICATIONS

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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Deepika D'Cunha Burkardt,  Anna Zachariou,  Chey Loveday,  Clare L. Allen,  David J. Amor,  Anna Ardissone,  Siddharth Banka,  Alexia Bourgois,  Christine Coubes,  Cheryl Cytrynbaum,  Laurence Faivre,  Gerard Marion,  Rachel Horton,  Dieter Kotzot,  Guillermo Lay-Son,  Melissa Lees,  Karen Low,  Ho-Ming Luk,  Paul Mark,  Allyn McConkie-Rosell,  Marie McDonald,  John Pappas,  Christophe Phillipe,  Deborah Shears,  Brian Skotko,  Fiona Stewart,  Helen Stewart,  I Karen. Temple,  Frederic T. Mau-Them,  Ricardo A. Verdugo,  Rosanna Weksberg,  Yuri A. Zarate,  John M. Graham,  Katrina Tatton-Brown, 

• Pages: 2049-2055
• First Published: 09 August 2019

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Ender Karaca,  Jennifer E. Posey,  Bret Bostwick,  Pengfei Liu,  Alper Gezdirici,  Gozde Yesil,  Zeynep Coban Akdemir,  Yavuz Bayram,  Frederike L. Harms,  Peter Meinecke,  Malik Alawi,  Carlos A. Bacino,  V. Reid Sutton,  Fanny Kortüm,  James R. Lupski, 

• Pages: 2056-2066
• First Published: 13 August 2019

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ORIGINAL ARTICLES

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Anthropometric characteristics of newborns with Prader–Willi syndrome

Alessandro Salvatoni,  Alex Moretti,  Graziano Grugni,  Massimo Agosti,  Sara Azzolini,  Valentina Bonaita,  Paola Cianci,  Domenico Corica,  Antonino Crinò,  Maurizio Delvecchio,  Silvio Ferraris,  Nella A. Greggio,  Lorenzo Iughetti,  Maria R. Licenziati,  Simona F. Madeo,  Luana Nosetti,  Roberta Pajno,  Irene Rutigliano,  Michele Sacco,  Silvia Salvatore,  Emanuela Scarano,  Giuliana Trifirò,  Malgorzata Wasniewska, 

• Pages: 2067-2074
• First Published: 30 July 2019

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Phenotype delineation of ZNF462 related syndrome

Paul Kruszka,  Tommy Hu,  Sungkook Hong,  Rebecca Signer,  Benjamin Cogné,  Betrand Isidor,  Sarah E. Mazzola,  Jacques C. Giltay,  Koen L. I. van Gassen,  Eleina M. England,  Lynn Pais,  Charlotte W. Ockeloen,  Pedro A. Sanchez-Lara,  Esther Kinning,  Darius J. Adams,  Kayla Treat,  Wilfredo Torres-Martinez,  Maria F. Bedeschi,  Maria Iascone,  Stephanie Blaney,  Oliver Bell,  Tiong Y. Tan,  Marie-Ange Delrue,  Julie Jurgens,  Brenda J. Barry,  Elizabeth C. Engle,  Sarah K. Savage,  Nicole Fleischer,  Julian A. Martinez-Agosto,  Kym Boycott,  Elaine H. Zackai,  Maximilian Muenke, 

• Pages: 2075-2082
• First Published: 30 July 2019

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SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

Anwar Baban,  Nicole Olivini,  Francesca Romana Lepri,  Federica Calì,  Mafalda Mucciolo,  Maria C. Digilio,  Giulio Calcagni,  Corrado di Mambro,  Bruno Dallapiccola,  Rachele Adorisio,  Antonio Novelli,  Fabrizio Drago, 

• Pages: 2083-2090
• First Published: 01 August 2019

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Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Mehnoosh Torkzaban,  Andrew Haddad,  Jason K. Baxter,  Vincenzo Berghella,  William A. Gahl,  Huda B. Al-Kouatly, 

• Pages: 2091-2100
• First Published: 22 August 2019

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Associated anomalies in cases with agenesis of the corpus callosum

Claude Stoll,  Beatrice Dott,  Marie-Paule Roth, 

• Pages: 2101-2111
• First Published: 24 August 2019

Correction(s) for this article

• Corrigendum

  • Volume 182Issue 1American Journal of Medical Genetics Part A
  • pages: 269-269
  • First Published online: November 19, 2019

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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

Orna Staretz-Chacham,  Rachel Shukrun,  Ortal Barel,  Ben Pode-Shakked,  Oren Pleniceanu,  Yair Anikster,  Nechama Shalva,  Carlos R. Ferreira,  Admit Ben-Haim Kadosh,  Justin Richardson,  Shrikant M. Mane,  Friedhelm Hildebrandt,  Asaf Vivante, 

• Pages: 2112-2118
• First Published: 24 August 2019

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Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

Miroslava Hancarova,  Marketa Havlovicova,  Martina Putzova,  Jan Vseticka,  Darina Prchalova,  Viktor Stranecky,  Zdenek Sedlacek, 

• Pages: 2119-2123
• First Published: 01 August 2019

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CLINICAL REPORTS

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Clinical and molecular analysis in Papillon–Lefèvre syndrome

Renato A. Machado,  Florence J. M. Cuadra-Zelaya,  Hercílio Martelli-Júnior,  Roseli T. Miranda,  Renato C. V. Casarin,  Mônica G. Corrêa,  Francisco Nociti,  Ricardo D. Coletta, 

• Pages: 2124-2131
• First Published: 07 July 2019

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Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles

Bruce Hayward,  Inna Loutaev,  Xiaohua Ding,  Sarah L. Nolin,  Audrey Thurm,  Karen Usdin,  Carolyn B. Smith, 

• Pages: 2132-2137
• First Published: 29 July 2019

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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

Nishitha R. Pillai,  Noura S. AlDhaheri,  Rajarshi Ghosh,  Jaehyung Lim,  Haley Streff,  Anuranjita Nayak,  Brett H. Graham,  Neil A. Hanchard,  Sarah H. Elsea,  Fernando Scaglia, 

• Pages: 2138-2143
• First Published: 10 July 2019

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Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases

Rachel Rabin,  Yoel Hirsch,  Martin M. Johansson,  Joseph Ekstein,  David A. Zeevi,  Beth Keena,  Elaine H. Zackai,  John Pappas, 

• Pages: 2144-2151
• First Published: 09 July 2019

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Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing

Carey-Anne Evans,  Jason Pinner,  Cheng Y. Chan,  Lucy Bowyer,  David Mowat,  Michael F. Buckley,  Tony Roscioli, 

• Pages: 2152-2157
• First Published: 19 July 2019

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