The accuracy of computer ‐based diagnostic tools for the identification of concurrent genetic disorders
The increasing use of next ‐generation sequencing, especially clinical exome sequencing, has revealed that individuals having two coexisting genetic conditions are not uncommon occurrences. This pilot study evaluates the efficacy of two methodologically distinct computational differential diagnosis generating tools—FindZe bra and SimulConsult—in identifying multiple genetic conditions in a single patient. Clinical query terms were generated for each of 15 monogenic disorders that were effective in resulting in the top 10 list of differential diagnoses for each of the 15 monogenic conditions when entered into ...
Source: American Journal of Medical Genetics Part A - November 26, 2018 Category: Genetics & Stem Cells Authors: Raoul R. Wadhwa, Deborah Y. Park, Marvin R. Natowicz Tags: RESEARCH ARTICLE Source Type: research

Gain ‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain‐of‐function variants in theODC1 gene. This disorder presents with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, and characteristic facial dysmorphisms. Neuroimaging variably demonstrates white matter abnormalities, prominent Virchow –Robin spaces, periventricular cysts, and abnormalities of the corpus callosum. Plasma clinical metabolomics analysis demonstrates elevation ofN‐acetylputrescine, the acetylated form of putrescine, w...
Source: American Journal of Medical Genetics Part A - November 26, 2018 Category: Genetics & Stem Cells Authors: Lance H. Rodan, Kwame Anyane ‐Yeboa, Karen Chong, Jolien S. Klein Wassink‐Ruiter, Ashley Wilson, Lacey Smith, Sanjeev V. Kothare, Farrah Rajabi, Susan Blaser, Min Ni, Ralph J. DeBerardinis, Annapurna Poduri, Gerard T. Berry Tags: RESEARCH ARTICLE Source Type: research

Unmasking familial CPX by WES and identification of novel clinical signs
This study emphasiz es the importance of WES analysis in familial CLP cases, combined with deep (reverse) phenotyping in “a priori” non‐syndromic clefts. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 21, 2018 Category: Genetics & Stem Cells Authors: B énédicte Demeer, Nicole Revencu, Raphael Helaers, Bernard Devauchelle, Geneviève François, Bénédicte Bayet, Miikka Vikkula Tags: RESEARCH ARTICLE Source Type: research

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy
We report a 9 ‐year‐old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio‐based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in theBRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this a...
Source: American Journal of Medical Genetics Part A - November 21, 2018 Category: Genetics & Stem Cells Authors: Lidia Pezzani, Daniela Marchetti, Anna Cereda, Lorella G. Caffi, Ornella Manara, Daniela Mamoli, Laura Pezzoli, Anna R. Lincesso, Loredana Perego, Isabella Pellicioli, Ezio Bonanomi, Laura Salvoni, Maria Iascone Tags: CLINICAL REPORT Source Type: research

Japanese patient with Cole ‐carpenter syndrome with compound heterozygous variants of SEC24D
We describe a 15‐year‐old Japanese boy with short stature of the short‐trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. These features were consistent with a diagnosis of Cole‐Carpenter syndrome. He had low‐bone mineral density and basilar impression. Whole exome sequencing analysis identified biallelic variants inSEC24D (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants ofSEC24D causing Cole ‐Carpenter syndrome type 2. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 21, 2018 Category: Genetics & Stem Cells Authors: Shinji Takeyari, Takuo Kubota, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Keiko Yamamoto, Yasuhisa Ohata, Taichi Kitaoka, Kumiko Yanagi, Tadashi Kaname, Keiichi Ozono Tags: CLINICAL REPORT Source Type: research

First reported adult patient with TARP syndrome: A case report
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X ‐linked syndrome often resulting in pre‐ or post‐natal lethality in affected males. In 2010,RBM10 was identified as the disease ‐causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, dis...
Source: American Journal of Medical Genetics Part A - November 21, 2018 Category: Genetics & Stem Cells Authors: Allan T. H øjland, Ihab Lolas, Henrik Okkels, Charlotte K. Lautrup, Birgitte R. Diness, Michael B. Petersen, Irene K. Nielsen Tags: CLINICAL REPORT Source Type: research

A retrospective study on sleep ‐disordered breathing in Morquio‐A syndrome
Respiratory problems are common in Morquio ‐A syndrome (MPS IVA) but objective data on sleep‐disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective revie w of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, ...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Giulia Facchina, Alessandro Amaddeo, Genevi ève Baujat, Sylvain Breton, Caroline Michot, Briac Thierry, Syril James, Timothé de Saint Denis, Michel Zerah, Sonia Khirani, Valerie Cormier‐Daire, Brigitte Fauroux Tags: ORIGINAL ARTICLE Source Type: research

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Ludmila Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, George Tanteles, Violetta C. Anastasiadou, Carolina Sismani Tags: RESEARCH LETTER Source Type: research

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
In this report we describe six new cases, four of which carry novel pathogenicSOX2 variants. Four cases presented with bilateral anophthalmia in addition to extraocular involvement. Another individual presented with only unilateral anophthalmia. One individual did not have any eye findings but presented with a suprasellar teratoma in infancy and was found to have the recurrent c.70del20 mutation inSOX2 (c.70_89del, p.Asn24Argfs*65). This is this first time this tumor type has been reported in the context of a de novoSOX2 mutation. Notably, individuals with hypothalamic hamartomas and slow ‐growing hypothalamo‐pituitary...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Patrick R. Blackburn, Oscar F. Chacon ‐Camacho, Xilma R. Ortiz‐González, Mariana Reyes, Graciela A. Lopez‐Uriarte, Shabnam Zarei, Elizabeth J. Bhoj, Sofia Perez‐Solorzano, Rachael A. Vaubel, Marine I. Murphree, Jessica Nava, Vianney Co Tags: RESEARCH ARTICLE Source Type: research

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
The TWIST family is a group of highly conserved basic helix –loop–helix transcription factors. In humans,TWIST1 haploinsufficiency causes Saethre –Chotzen syndrome, which is characterized by craniosynostosis. Heterozygous localizedTWIST1 andTWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney –Cox syndrome, Barber–Say syndrome, and ablepharon‐macrostomia syndrome, respectively. Sweeney–Cox syndrome, Barber–Say syndrome, and ablepharon‐macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek p...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Toshiki Takenouchi, Yoshiaki Sakamoto, Hironori Sato, Hisato Suzuki, Tomoko Uehara, Yoshiteru Ohsone, Kenjiro Kosaki Tags: CLINICAL REPORT Source Type: research

Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients
TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X ‐linked condition. As more patients are identified through genetic testing, it is increasingly clear that the original TARP acronym does not fully describe the complete phenotypic spectrum of this syndrome. The presented patient had genetically confirmed TARP syndrome and demonstrated new findings of hydronephrosis and hemodynamically significant hypertrophic obstructive cardiomyopathy. The patient also had physical findings common with previously reported individuals with TARP syndrome in the lit...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Kathrine E. Kaeppler, Raymond C. Stetson, Brendan C. Lanpher, Christopher A. Collura Tags: CLINICAL REPORT Source Type: research

An additional case of Hennekam lymphangiectasia –lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3
Hennekam lymphangiectasia –lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations inCCBE1 (collagen ‐ and calcium‐binding epidermal growth factor domain‐containing protein 1) (HKLLS1; OMIM 235510) orFAT4 (HKLLS2; OMIM 616006). CCBE1 acts via ADAMTS3 (a disintegrin and metalloprotease with thrombospondin motifs ‐3 protease) to enhance vascular endothelial growth factor C signal...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Angela E. Scheuerle, Nathan T. Sweed, Charles F. Timmons, Erica D. Smith, Wendy A. Alcaraz, Deepali N. Shinde Tags: CLINICAL REPORT Source Type: research

Microphthalmia is not a mandatory finding in X ‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu
Mutations inBCOR cause X ‐linked dominant and X‐linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrentBCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X ‐linked recessiveBCOR‐associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability ofBCOR‐associated, syndr...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Cornelia Kraus, Steffen Uebe, Christian T. Thiel, Arif B. Ekici, Andr é Reis, Christiane Zweier Tags: CLINICAL REPORT Source Type: research

Next generation sequencing ‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes
In this study, we used commercially available inherited disease NGS panels including 50 CC genes for the genetic diagnosis of 11 probands with hereditary CC. Causal variants were recognized in six families. A novelCRYGC variant, p.(Phe6Ser), was identified in two apparently unrelated families. Two additional novel variants in the crystallin genesCRYBB2 (p.[Gly149Asp]) andCRYGA (p.[Arg48Cys]) were also identified. One family carried the novel p.[Gly8_Leu11del] variant inGJA8, while another family exhibited the previously reported c.2826 ‐9G>A pathogenic change inEPHA2. Our results illustrate the utility of NGS for diag...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Mirena C. Astiazar án, Leopoldo A. García‐Montaño, Francisco Sánchez‐Moreno, Humberto Matiz‐Moreno, Juan C. Zenteno Tags: RESEARCH ARTICLE Source Type: research

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation
We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation inCOL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously describedCOL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. Radiographs demonstrated abnormal capital femoral epiphyses and mild irregularities of the vertebral endplates. This case further establishes the phenotype associated with mutations in this gene. We suggest that loss of the α3 c...
Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Andrea Hanson ‐Kahn, Bing Li, Daniel H. Cohn, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Louanne Hudgins Tags: CLINICAL REPORT Source Type: research

Gene ‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development
In this study, we define an 8.1 Mb “critical region” for kidney defects in Jacobsen syndrome, which spans ~50 genes. We demonstrate that gene‐targeted deletion ofEts ‐1 in mice results in some of the most common congenital kidney defects occurring in Jacobsen syndrome, including: duplicated kidney, hypoplastic kidney, and dilated renal pelvis and calyces. Taken together, our results implicate Ets ‐1 in normal mammalian kidney development and, potentially, in the pathogenesis of some of the most common types of human structural kidney defects. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - November 13, 2018 Category: Genetics & Stem Cells Authors: Maoqing Ye, Lian Xu, Mengxia Fu, Dongrui Chen, Teresa Mattina, Orsetta Zufardi, Elena Rossi, Kevin T. Bush, Sanjay K. Nigam, Paul Grossfeld Tags: RESEARCH ARTICLE Source Type: research

Molecular genetics of 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2070-2081, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Bernice E. Morrow, Donna M. McDonald ‐McGinn, Beverly S. Emanuel, Joris R. Vermeesch, Peter J. Scambler Source Type: research

Cover Image, Volume 176A, Number 10, October 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page i-i, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Y. Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Ka Source Type: research

Table of Contents, Volume 176A, Number 10, October 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2045-2048, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2049-2049, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research

Novel Gene ‐Editing Technique Cures β‐Thalassemia in Utero: A novel peptide nucleic acid‐based gene–editing technique using a nanoparticle delivery system seemingly cured beta thalassemia in fetal mice
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2052-2053, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research

Providers Unprepared for Interpreting Unsolicited Genomic Results: Direct ‐to‐consumer testing has increased the number of individuals getting genetic testing in the absence of medical concerns yet turning to their providers for interpretation of results
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2051-2052, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research

In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2054-2054, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Source Type: research

22q11.2 deletion syndrome: A tiny piece leading to a big picture
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2055-2057, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Donna M. McDonald ‐McGinn Source Type: research

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2058-2069, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Y. Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Ka Source Type: research

Club foot in association with the 22q11.2 deletion syndrome: An observational study
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2135-2139, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Jelle F. Homans, Terrence B. Crowley, Erin Chen, Daniel E. McGinn, Vincent F. X. Deeney, Ralph J. B. Sakkers, Richard S. Davidson, Ren é M. Castelein, Donna M. McDonald‐McGinn Source Type: research

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 10, Page 2167-2171, October 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Katheryn Grand, Lorraine E. Levitt Katz, T. Blaine Crowley, Edward Moss, Megan Lessig, Vaneeta Bamba, Katherine Lord, Elaine H. Zackai, Beverly S. Emanuel, Kathleen Valverde, Donna M. McDonald ‐McGinn Source Type: research

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Aya Abu ‐El‐Haija, Jeff Fineman, Andrew J. Connolly, Priyanka Murali, Luke M. Judge, Anne M. Slavotinek Source Type: research

Acanthosis nigricans in achondroplasia
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Cory J. Smid, Peggy Modaff, Adekemi Alade, Janet M. Legare, Richard M. Pauli Source Type: research

Modeling age ‐specific facial development in Williams–Beuren‐, Noonan‐, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3–18 years: A cross‐sectional three‐dimensional geometric morphometry analysis of their facial gestalt
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 31, 2018 Category: Genetics & Stem Cells Authors: Martina Čaplovičová, Veronika Moslerová, Ján Dupej, Milan Macek, Dana Zemková, Eva Hoffmannová, Markéta Havlovicová, Jana Velemínská Source Type: research

Neurologic challenges in 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 26, 2018 Category: Genetics & Stem Cells Authors: Sarah E. Hopkins, Madeline Chadehumbe, Terrence Blaine Crowley, Elaine H. Zackai, Larissa T. Bilaniuk, Donna M. McDonald ‐McGinn Source Type: research

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 26, 2018 Category: Genetics & Stem Cells Authors: C. Lemattre, J. Thevenon, Y. Duffourd, S. Nambot, E. Haquet, B. Vuadelle, D. Genevieve, P. Sarda, A. L. Bruel, P. Kuentz, C. F. Wells, L. Faivre, M. Willems Source Type: research

PRICKLE1 ‐related early onset epileptic encephalopathy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Mario Mastrangelo, Manuela Tolve, Martina Martinelli, Sofia P. Di Noia, Elena Parrini, Vincenzo Leuzzi Source Type: research

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle ‐Eastern origin
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Ameera Balobaid, Tawfeg Ben ‐Omran, Khushnooda Ramzan, Ruqaiah Altassan, Mariam Almureikhi, Sara Musa, Nadia Al‐Hashmi, Mohammed Al‐Owain, Hamad Al‐Zaidan, Zuhair Al‐Hassnan, Faiqa Imtiaz, Moeenaldeen Al‐Sayed Source Type: research

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Sarah L. Dugan, Emanuele Panza, Amanda Openshaw, Lorenzo D. Botto, Jose A. Camacho, Reha M. Toydemir Source Type: research

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Rachel Rabin, Francisca Millan, Juan Cabrera ‐Luque, John Pappas Source Type: research

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Varun Takyar, Divya Khattar, Alexander Ling, Rachna Patel, Julie C. Sapp, Sun A. Kim, Sungyoung Auh, Leslie G. Biesecker, Kim M. Keppler ‐Noreuil, Theo Heller Source Type: research

Metabolic responses to walking in children with Prader ‐Willi syndrome on growth hormone replacement therapy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Adam M. Hyde, Frank A. Chavoya, Fabiano V. Silveira, William C. Beam, Daniela A. Rubin Source Type: research

Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Jasmien Roosenboom, Robert Hermans, Frederik Lammens, Jean Louis Samain, Koen Devriendt, Vincent Vander Poorten, Peter W. Hellings, Mark Jorissen, Hilde Peeters, Peter Claes, Greet Hens Source Type: research

Developmental delay and failure to thrive associated with a loss ‐of‐function variant in WHSC1 (NSD2)
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 22, 2018 Category: Genetics & Stem Cells Authors: Nicole J. Boczek, Carrie A. Lahner, Thuy ‐mi Nguyen, Matthew J. Ferber, Linda Hasadsri, Erik C. Thorland, Zhiyv Niu, Ralitza H. Gavrilova Source Type: research

A 23 ‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2018 Category: Genetics & Stem Cells Authors: Alina T. Midro, Beata Stasiewicz ‐Jarocka, Jan Borys, Kazimierz Kozłowski, Bożena Skotnicka, Eugeniusz Tarasów, Ewa Hubert, Jerzy Konstantynowicz, Barbara Panasiuk, Małgorzata Rydzanicz, Agnieszka Pollak, Piotr Stawiński, Rafał Skowro Source Type: research

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2018 Category: Genetics & Stem Cells Authors: Mar ía Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Jaime Cruz‐Rojo, Lucía Garzón‐Lorenzo, Patricia Carnicero‐Rodríguez, Jaime Sánchez‐Del Pozo, Francisco Martínez‐Azorín Source Type: research

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 17, 2018 Category: Genetics & Stem Cells Authors: Pascaline L étard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne‐Lise Delezoide, Suonavy Khung‐Savatovsky Source Type: research

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Katherine A. Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John Albeck, Brage S. Andresen, H élène Cavé, Michelle Ellis, Steven M. Fruchtman, Bruce D. Gelb, Christopher C. Gibson, Karen Gripp, Erin Hefner, William Y. C. Huang, Maxim It Source Type: research

Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3 ‐associated leukodystrophy
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Rahul M. Nikam, Karen W. Gripp, Arabinda K. Choudhary, Vinay Kandula Source Type: research

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: Jason C. Carson, Lori Hoffner, Laura Conlin, W. Tony Parks, Rosemary A. Fisher, Nancy Spinner, Svetlana A. Yatsenko, Jeffrey Bonadio, Urvashi Surti Source Type: research

Schaaf ‐Yang syndrome overview: Report of 78 individuals
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 10, 2018 Category: Genetics & Stem Cells Authors: John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf Source Type: research

A de novo in ‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Xiuhua Bozarth, Kimberly Foss, Heather C. Mefford Source Type: research

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: Didem Dagdeviren, Faleh Tamimi, Brendan Lee, Reid Sutton, Frank Rauch, Jean ‐Marc Retrouvey Source Type: research

Prenatal profile of Pallister ‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - October 5, 2018 Category: Genetics & Stem Cells Authors: E Salzano, SE Raible, M Kaur, A Wilkens, G Sperti, RK Tilton, LR Bettini, A Rocca, G Cocchi, A Selicorni, LK Conlin, D McEldrew, R Gupta, S Thakur, K Izumi, ID Krantz Source Type: research