Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect 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 - April 17, 2018 Category: Genetics & Stem Cells Authors: JariyaUpadia , Patrick R.Gonzales , Nathaniel H.Robin Source Type: research

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long ‐term outcome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: FadyHannah ‐Shmouni , VivianCruz , AndreasSchulze , SaadetMercimek‐Andrews Source Type: research

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: CharlesZhang , Steven F.Miller , JasmienRoosenboom , George L.Wehby , Lina M.Moreno Uribe , Jacqueline T.Hecht , Frederic W. B.Deleyiannis , KaareChristensen , Mary L.Marazita , Seth M.Weinberg Source Type: research

Barakat syndrome revisited
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 17, 2018 Category: Genetics & Stem Cells Authors: Amin J.Barakat , MargaritaRaygada , Owen M.Rennert Source Type: research

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1427-1431, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: LedaPaganini , ChiaraPesenti , DonatellaMilani , LauraFontana , SilviaMotta , Silvia MariaSirchia , GiuliettaScuvera , PaolaMarchisio , SusannaEsposito , Claudia MariaCinnante , Silvia MariaTabano , Monica RosaMiozzo Source Type: research

Three patients with DeSanto ‐Shinawi syndrome: Further phenotypic delineation
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1335-1340, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara , TakashiIshige , ShigetoHattori , HiroshiYoshihashi , MichinoriFunato , YuYamaguchi , ToshikiTakenouchi , KenjiroKosaki Source Type: research

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1405-1410, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: Eva ‐LenaStattin , JosefinJohansson , SannaGudmundsson , AdamAmeur , StaffanLundberg , Marie‐LouiseBondeson , MariaWilbe Source Type: research

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1423-1426, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: JariyaUpadia , Patrick R.Gonzales , Nathaniel H.Robin Source Type: research

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1296-1303, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: CharlesZhang , Steven F.Miller , JasmienRoosenboom , George L.Wehby , Lina M.Moreno Uribe , Jacqueline T.Hecht , Frederic W. B.Deleyiannis , KaareChristensen , Mary L.Marazita , Seth M.Weinberg Source Type: research

Choroid plexus hyperplasia and chromosome 9p gains
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1416-1422, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: MartinBoxill , NajaBecher , LoneSunde , ThomasThelle Source Type: research

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long ‐term outcome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1411-1415, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: FadyHannah ‐Shmouni , VivianCruz , AndreasSchulze , SaadetMercimek‐Andrews Source Type: research

Barakat syndrome revisited
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1341-1348, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 16, 2018 Category: Genetics & Stem Cells Authors: Amin J.Barakat , MargaritaRaygada , Owen M.Rennert Source Type: research

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1304-1308, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 31, 2018 Category: Genetics & Stem Cells Authors: Kailey M.Owens , LindsayDohany , CarolHolland , JeanaDaRe , TobiasMann , ChristinaSettler , Ryan E.Longman Source Type: research

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 31, 2018 Category: Genetics & Stem Cells Source Type: research

The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic 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 - March 25, 2018 Category: Genetics & Stem Cells Authors: Oanh KieuVo , AlisdairMcNeill , Katharina SophieVogt Source Type: research

Clinical, biochemical, and genetic features of four patients with short ‐chain enoyl‐CoA hydratase (ECHS1) deficiency
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Biallelic loss ‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1030-1036, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Patients Express Satisfaction, Understanding of Whole ‐Genome Sequencing: In primary care and cardiology, patients were generally satisfied with their physicians' communication of WGS results, but expectations about its clinical benefits were not met
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 754-755, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Associations between laterality of orofacial clefts and medical and academic outcomes
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1037-1037, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

First ‐year growth in children with Noonan syndrome: Associated with feeding problems?
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 951-958, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 945-950, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1011-1014, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1006-1010, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 936-944, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Age and ASD symptoms in Costello syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1027-1028, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 959-968, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

In this issue
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 757-757, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Publication schedule for 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 753-753, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Table of Contents, Volume 176A, Number 4, April 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 749-752, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Cover Image, Volume 176A, Number 4, April 2018
American Journal of Medical Genetics Part A,Volume 176, Issue 4, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

DNA Methylation Possible Adjunct to Screening for Neurodevelopmental Syndromes: DNA methylation signatures were identified for several neurodevelopmental Mendelian disorders, and hold promise as a supplement to standard procedures for screening and detection of these diseases
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 755-756, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

A recurrent mutation causing Melnick ‐Needles syndrome in females confers a severe, lethal phenotype in males
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 980-984, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Isosorbide dinitrate in nephronophthisis treatment
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1023-1026, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

A homozygous TTN gene variant associated with lethal congenital contracture syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 1001-1005, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Low serum fatty acid levels in pregnancies with fetal gastroschisis: A prospective study
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 915-924, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 997-1000, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 992-996, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein –Taybi syndrome
In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein–Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity. The main characteristics of the patients are de...
Source: American Journal of Medical Genetics Part A - February 20, 2018 Category: Genetics & Stem Cells Authors: Leonie A. Menke, , Thatjana Gardeitchik, Peter Hammond, Ketil R. Heimdal, Gunnar Houge, Sophia B. Hufnagel, Jianling Ji, Stefan Johansson, Sarina G. Kant, Esther Kinning, Eyby L. Leon, Ruth Newbury ‐Ecob, Stefano Paolacci, Rolph Pfundt, Nicola K. Ragge, Tags: ORIGINAL ARTICLE Source Type: research

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein –Taybi syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 862-876, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 20, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 20, 2018 Category: Genetics & Stem Cells Source Type: research

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in MYRF was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Authors: Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine Zackai, Elizabeth J. Bhoj Tags: RAPID COMMUNICATION Source Type: research

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 969-972, April 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 510-512, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page i-i, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 578-588, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 513-513, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 509-509, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - February 15, 2018 Category: Genetics & Stem Cells Source Type: research