Eduardo E. Castilla (1933 –2017): El grande TROESMA*
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Denise PontesCavalcanti Source Type: research

A novel MYT1L mutation in a patient with severe early ‐onset obesity and intellectual disability
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Petra Loid , Riikka M äkitie , Alice Costantini , Heli Viljakainen , Minna Pekkinen , Outi Mäkitie Source Type: research

A recessive truncating variant in thrombospondin ‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Hanadi A. Abdelrahman , Aisha Al ‐Shamsi , Anne John , Jozef Hertecant , Ali Lootah , Bassam R. Ali , Lihadh Al‐Gazali Source Type: research

A recognizable phenotype related to 19p13.12 microdeletion
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Laiara Cristinade Souza , Il ária CristinaSgardioli , Vera LúciaGil‐da‐Silva‐Lopes , Társis PaivaVieira Source Type: research

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Jennifer Roberts , Dmitry Lyalin , Norwood Tosatto , Pratibha Rana , Hiba Fadoul , Holly Welsh , Lei Zhang , Linda Cooley , Elena Repnikova Source Type: research

Health supervision for people with Bloom 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 - July 28, 2018 Category: Genetics & Stem Cells Authors: Christopher Cunniff , Amir Reza Djavid , Steven Carrubba , Bernard Cohen , Nathan A. Ellis , Carolyn Fein Levy , Stacy Jeong , Howard M. Lederman , Maria Vogiatzi , Michael F. Walsh , Ann Graham Zauber Source Type: research

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Ganka Douglas , Megan T. Cho , Aida Telegrafi , Susan Winter , Jason Carmichael , Elaine H. Zackai , Matthew A. Deardorff , Margaret Harr , Linford Williams , Apostolos Psychogios , Angelika L. Erwin , Theresa G Source Type: research

A case of severe TBCE ‐negative hypoparathyroidism‐retardation‐dysmorphism syndrome: Case report and literature review
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Anna Ryabets ‐Lienhard , Satja Issaranggoon na Ayuthaya , John M. Graham , Pisit Pitukcheewanont Source Type: research

A 69 ‐year‐old woman with Coffin–Siris 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 - July 28, 2018 Category: Genetics & Stem Cells Authors: LauraM äättänen , MarjaHietala , JaakkoIgnatius , MariaArvio Source Type: research

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p 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 - July 28, 2018 Category: Genetics & Stem Cells Authors: DimitriRenard , GuillaumeTaieb , MatteoGaribaldi , AndreMaues De Paula , RafaelleBernard , NadiraLagha , GaelCristofari , CatherineVovan , Charl èneChaix , NicolasLévy , PhilippeKhau Van Kien , SabrinaSacconi Source Type: research

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: AmandaRogers , PaulGolumbek , ElenaCellini , ViolaDoccini , RenzoGuerrini , CarinaWallgren ‐Pettersson , Ann‐CharlotteThuresson , Christina A.Gurnett Source Type: research

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 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 - July 28, 2018 Category: Genetics & Stem Cells Authors: Erica Schindewolf , Nahla Khalek , Mark P. Johnson , Juliana Gebb , Beverly Coleman , Terrence Blaine Crowley , Elaine H. Zackai , Donna M. McDonald ‐McGinn , Julie S. Moldenhauer Source Type: research

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner 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 - July 28, 2018 Category: Genetics & Stem Cells Authors: ArunkanthAnkala , NierajJain , BakerHubbard , John J.Alexander , Suma P.Shankar Source Type: research

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: Mark D.Levin , Sulagna C.Saitta , Karen W.Gripp , Tara L.Wenger , JayaGanesh , Jennifer M.Kalish , Michael R.Epstein , RosemarieSmith , Richard J.Czosek , Stephanie M.Ware , PaulaGoldenberg , AngelaMyers , Kathryn C.Ch Source Type: research

Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 28, 2018 Category: Genetics & Stem Cells Authors: John C.K. Barber Source Type: research

In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 25, 2018 Category: Genetics & Stem Cells Authors: Denise P.Cavalcanti Source Type: research

Cover Image, Volume 176A, Number 7, July 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page i-i, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Irene J.Chang , AngelaSun , Maryse L.Bouchard , Shawn E.Kamps , SusanHale , StephenDone , Michael J.Goldberg , Ian A.Glass Source Type: research

Table of Contents, Volume 176A, Number 7, July 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1537-1540, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

In This Issue
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1544-1545, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Molecular Signature at Birth Associated With Genetic Burden for Autism
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1543-1544, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1546-1546, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1541-1541, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Source Type: research

Introducing in AJMG Part A: Case reports in diverse populations
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1547-1548, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Katta M.Girisha , AmbroiseWonkam , MaximilianMuenke Source Type: research

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1688-1691, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Kristin D.Kernohan , TailaHartley , SergeyNaumenko , Christine M.Armour , Gail E.Graham , Sarah M.Nikkel , MatthewLines , Michael T.Geraghty , JulieRicher , WendyMears , Kym M.Boycott , David A.Dyment Source Type: research

Autosomal ‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1622-1626, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Sajya M.Singh , Susan A.Casey , Allison A.Berg , Raed H.Abdelhadi , William T.Katsiyiannis , Mosi K.Bennett , ShannonMackey ‐Bojack , Emily R.Duncanson , Jay D.Sengupta Source Type: research

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41 ‐q42 deletion phenotype
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1549-1558, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: ChrisBalak , NewellBelnap , KeriRamsey , ShelaghJoss , KoenDevriendt , MarcusNaymik , WayneJepsen , Ashley L.Siniard , SzabolcsSzelinger , Mary E.Parker , RyanRichholt , TylerIzatt , MadisonLaFleur , PaniehTerraf , Source Type: research

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1675-1679, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Irene J.Chang , AngelaSun , Maryse L.Bouchard , Shawn E.Kamps , SusanHale , StephenDone , Michael J.Goldberg , Ian A.Glass Source Type: research

Ocular albinism with infertility and late ‐onset sensorineural hearing loss
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1587-1593, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Bj ørn K.Fabian‐Jessing , Else MarieVestergaard , Astrid S.Plomp , Arthur A.Bergen , Wouter A.Dreschler , MortenDuno , Beata S.Winiarska , LindaNeumann , MichaelGaihede , HenrikVorum , Michael B.Petersen Source Type: research

Further delineation of Aym é‐Gripp syndrome and use of automated facial analysis tool
American Journal of Medical Genetics Part A,Volume 176, Issue 7, Page 1648-1656, July 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - July 17, 2018 Category: Genetics & Stem Cells Authors: Shivarajan M.Amudhavalli , RandiHanson , BradAngle , KellyBontempo , Karen W.Gripp Source Type: research

Cover Image, Volume 176A, Number 6, June 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page i-i, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research

Table of Contents, Volume 176A, Number 6, June 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1275-1278, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1279-1279, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1280-1282, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1282-1282, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

In this issue
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1283-1283, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Cover Image, Volume 176A, Number 6, June 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page i-i, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research

Table of Contents, Volume 176A, Number 6, June 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1275-1278, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1279-1279, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1280-1282, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1282-1282, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

In this issue
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1283-1283, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

MAP2K2 mutation as a cause of cardio ‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 25, 2018 Category: Genetics & Stem Cells Authors: MonikaGos , RobertSmigiel , TeresaKaczan , AleksandraLandowska , AnnaAbramowicz , MalgorzataSasiadek , JerzyBal Source Type: research

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB ‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 24, 2018 Category: Genetics & Stem Cells Authors: HelgaRehder , FrancoLaccone , Susanne G.Kircher , Ralf L.Schild , ChristianeRapp , RainerBald , BerntSchulze , JanaBehunova , JuergenNeesen , KatharinaSchoner Source Type: research

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: ManarZaghlula , Daniel G.Glaze , Gregory M.Enns , LorrainePotocki , Aloysia L.Schwabe , BernhardSuter Source Type: research

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: Nancy J.Butcher , ErikBoot , Anthony E.Lang , DanielleAndrade , JacobVorstman , DonnaMcDonald ‐McGinn , Anne S.Bassett Source Type: research

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: ManarZaghlula , Daniel G.Glaze , Gregory M.Enns , LorrainePotocki , Aloysia L.Schwabe , BernhardSuter Source Type: research

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: Nancy J.Butcher , ErikBoot , Anthony E.Lang , DanielleAndrade , JacobVorstman , DonnaMcDonald ‐McGinn , Anne S.Bassett Source Type: research

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 9, 2018 Category: Genetics & Stem Cells Authors: Andrea KlunderPetersen , HaleyStreff , MariTokita , Bret L.Bostwick Source Type: research