Acute lymphoblastic leukemia in a male with Simpson –Golabi–Behmel 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: MariMinatogawa , FuminoriIwasaki , TakayukiYokoi , JunichiNagai , SatoruSakazume , HiroakiGoto , KenjiKurosawa Source Type: research

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform
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 8, 2018 Category: Genetics & Stem Cells Authors: AnjaliSadhwani , Neville E.Sanjana , Jennifer M.Willen , Stephen N.Calculator , Emily D.Black , Lora J. H.Bean , HongLi , Wen ‐HannTan Source Type: research

Tissue ‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families
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 8, 2018 Category: Genetics & Stem Cells Authors: JamieMcDonald , Whitney L.Wooderchak ‐Donahue , KatharineHenderson , EleriPaul , AshleyMorris , PinarBayrak‐Toydemir Source Type: research

Systemic lupus erythematosus in a patient with Noonan syndrome ‐like disorder with loose anagen hair 1: More than a chance association
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 8, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara , NaokiHosogaya , NobutakeMatsuo , KenjiroKosaki Source Type: research

Timothy syndrome ‐like condition with syndactyly but without prolongation of the QT interval
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 8, 2018 Category: Genetics & Stem Cells Authors: RikaKosaki , HiroshiOno , HiroshiTerashima , KenjiroKosaki Source Type: research

Novel PLS3 variants in X ‐linked osteoporosis: Exploring bone material properties
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 8, 2018 Category: Genetics & Stem Cells Authors: MeenaBalasubramanian , NadjaFratzl ‐Zelman , RoryO'Sullivan , MaryBull , NicolaFA Peel , Rebecca CPollitt , RebeccaJones , ElizabethMilne , KathSmith , PaulRoschger , KlausKlaushofer , Nicholas JBishop Source Type: research

KIF16B is a candidate gene for a novel autosomal ‐recessive intellectual disability 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: SaudAlsahli , Stefan T.Arold , AhmedAlfares , BaderAlhaddad , MohammedAl Balwi , Erik ‐JanKamsteeg , WaleedAl‐Twaijri , MajidAlfadhel Source Type: research

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform
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 8, 2018 Category: Genetics & Stem Cells Authors: AnjaliSadhwani , Neville E.Sanjana , Jennifer M.Willen , Stephen N.Calculator , Emily D.Black , Lora J. H.Bean , HongLi , Wen ‐HannTan Source Type: research

Tissue ‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families
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 8, 2018 Category: Genetics & Stem Cells Authors: JamieMcDonald , Whitney L.Wooderchak ‐Donahue , KatharineHenderson , EleriPaul , AshleyMorris , PinarBayrak‐Toydemir Source Type: research

Systemic lupus erythematosus in a patient with Noonan syndrome ‐like disorder with loose anagen hair 1: More than a chance association
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 8, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara , NaokiHosogaya , NobutakeMatsuo , KenjiroKosaki Source Type: research

Timothy syndrome ‐like condition with syndactyly but without prolongation of the QT interval
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 8, 2018 Category: Genetics & Stem Cells Authors: RikaKosaki , HiroshiOno , HiroshiTerashima , KenjiroKosaki Source Type: research

Novel PLS3 variants in X ‐linked osteoporosis: Exploring bone material properties
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 8, 2018 Category: Genetics & Stem Cells Authors: MeenaBalasubramanian , NadjaFratzl ‐Zelman , RoryO'Sullivan , MaryBull , NicolaFA Peel , Rebecca CPollitt , RebeccaJones , ElizabethMilne , KathSmith , PaulRoschger , KlausKlaushofer , Nicholas JBishop Source Type: research

Acute lymphoblastic leukemia in a male with Simpson –Golabi–Behmel 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: MariMinatogawa , FuminoriIwasaki , TakayukiYokoi , JunichiNagai , SatoruSakazume , HiroakiGoto , KenjiKurosawa Source Type: research

KIF16B is a candidate gene for a novel autosomal ‐recessive intellectual disability 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 - May 8, 2018 Category: Genetics & Stem Cells Authors: SaudAlsahli , Stefan T.Arold , AhmedAlfares , BaderAlhaddad , MohammedAl Balwi , Erik ‐JanKamsteeg , WaleedAl‐Twaijri , MajidAlfadhel Source Type: research

A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations
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 28, 2018 Category: Genetics & Stem Cells Authors: Shinn YoungKim , Hyun ‐SunKo , NamshinKim , Seon‐HeeYim , Seung‐HyunJung , JiwoongKim , Myung‐DukLee , Yeun‐JunChung Source Type: research

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents —the first cases of gonadal mosaicism in CFC?
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 28, 2018 Category: Genetics & Stem Cells Authors: SarahGeoghegan , GrahamKing , JenniferHenchliffe , Simon C.Ramsden , Raymond J.Barry , Andrew J.Green , Susan M.O'Connell Source Type: research

Atypical presentations associated with non ‐polyalanine repeat PHOX2B mutations
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 28, 2018 Category: Genetics & Stem Cells Authors: UmakanthKatwa , Alissa M.D'Gama , Anita E.Qualls , Lucas M.Donovan , JodyHeffernan , JiahaiShi , Pankaj B.Agrawal Source Type: research

Familial autosomal dominant severe ankyloglossia with tooth abnormalities
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 28, 2018 Category: Genetics & Stem Cells Authors: Ana ëlleLenormand , RomanKhonsari , PierreCorre , Jean PhilippePerrin , CécileBoscher , MathildeNizon , OlivierPichon , AlbertDavid , CedricLe Caignec , HeliosBertin , BertrandIsidor Source Type: research

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
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 28, 2018 Category: Genetics & Stem Cells Authors: Chlo éQuélin , PhilippeLoget , LucileBoutaud , NadiaElkhartoufi , JoelleMilon , SylvieOdent , MélanieFradin , FlorenceDemurger , LaurentPasquier , SophieThomas , TaniaAttié‐Bitach Source Type: research

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
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 28, 2018 Category: Genetics & Stem Cells Authors: DavidOwen , AnaT öpf , VeeramaniPreethish‐Kumar , Paulo JoséLorenzoni , BasVroling , Rosana HerminiaScola , ElzaDias‐Tosta , ArgemiroGeraldo , KiranPolavarapu , SaraswatiNashi , DanielCox , TeresinhaEvangelista , Source Type: research

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
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 28, 2018 Category: Genetics & Stem Cells Authors: SharolinBoban , HelenLeonard , KingsleyWong , AndrewWilson , JennyDowns Source Type: research

A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations
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 28, 2018 Category: Genetics & Stem Cells Authors: Shinn YoungKim , Hyun ‐SunKo , NamshinKim , Seon‐HeeYim , Seung‐HyunJung , JiwoongKim , Myung‐DukLee , Yeun‐JunChung Source Type: research

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents —the first cases of gonadal mosaicism in CFC?
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 28, 2018 Category: Genetics & Stem Cells Authors: SarahGeoghegan , GrahamKing , JenniferHenchliffe , Simon C.Ramsden , Raymond J.Barry , Andrew J.Green , Susan M.O'Connell Source Type: research

Atypical presentations associated with non ‐polyalanine repeat PHOX2B mutations
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 28, 2018 Category: Genetics & Stem Cells Authors: UmakanthKatwa , Alissa M.D'Gama , Anita E.Qualls , Lucas M.Donovan , JodyHeffernan , JiahaiShi , Pankaj B.Agrawal Source Type: research

Familial autosomal dominant severe ankyloglossia with tooth abnormalities
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 28, 2018 Category: Genetics & Stem Cells Authors: Ana ëlleLenormand , RomanKhonsari , PierreCorre , Jean PhilippePerrin , CécileBoscher , MathildeNizon , OlivierPichon , AlbertDavid , CedricLe Caignec , HeliosBertin , BertrandIsidor Source Type: research

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
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 28, 2018 Category: Genetics & Stem Cells Authors: Chlo éQuélin , PhilippeLoget , LucileBoutaud , NadiaElkhartoufi , JoelleMilon , SylvieOdent , MélanieFradin , FlorenceDemurger , LaurentPasquier , SophieThomas , TaniaAttié‐Bitach Source Type: research

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices
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 28, 2018 Category: Genetics & Stem Cells Authors: SharolinBoban , HelenLeonard , KingsleyWong , AndrewWilson , JennyDowns Source Type: research

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
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 28, 2018 Category: Genetics & Stem Cells Authors: DavidOwen , AnaT öpf , VeeramaniPreethish‐Kumar , Paolo JoséLorenzoni , BasVroling , Rosana HerminiaScola , ElzaDias‐Tosta , ArgemiroGeraldo , KiranPolavarapu , SaraswatiNashi , DanielCox , TeresinhaEvangelista , Source Type: research

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
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 26, 2018 Category: Genetics & Stem Cells Authors: AnnSwillen , EdwardMoss , SasjaDuijff Source Type: research

A German ‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1289-1295, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 26, 2018 Category: Genetics & Stem Cells Authors: Arno G.Motulsky Source Type: research

Arno G. Motulsky, 1923 –2018, Luck and Service
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 26, 2018 Category: Genetics & Stem Cells Authors: John M.Opitz Source Type: research

The phenotypic spectrum of Xia ‐Gibbs 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: YunyunJiang , Michael F.Wangler , Amy L.McGuire , James R.Lupski , Jennifer E.Posey , Michael M.Khayat , David R.Murdock , LuisSanchez ‐Pulido , Chris P.Ponting , FanXia , Jill V.Hunter , QingchangMeng , MullaiMurugan Source Type: research

X ‐linked intellectual disability update 2017
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 26, 2018 Category: Genetics & Stem Cells Authors: GiovanniNeri , Charles E.Schwartz , Herbert A.Lubs , Roger E.Stevenson Source Type: research

An assessment of health, social, communication, and daily living skills of adults with down 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: Theodora J.Matthews , Dawn C.Allain , Anne L.Matthews , AnnaMitchell , Stephanie L.Santoro , LeslieCohen Source Type: research

Association of 17q24.2 ‐q24.3 deletions with recognizable phenotype and short telomeres
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 26, 2018 Category: Genetics & Stem Cells Authors: MiroslavaHancarova , MarcelaMalikova , MichaelaKotrova , JanaDrabova , MarieTrkova , ZdenekSedlacek Source Type: research

Functional independence of Taiwanese children with Prader –Willi 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: Chung ‐LinLee , Hsiang‐YuLin , Li‐PingTsai , Huei‐ChingChiu , Ru‐YiTu , You‐HsinHuang , Yin‐HsiuChien , Ni‐ChungLee , Dau‐MingNiu , Mei‐ChynChao , Fuu‐JenTsai , Yen‐YinChou , Chih‐KuangChuang Source Type: research

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management
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 26, 2018 Category: Genetics & Stem Cells Authors: AnnSwillen , EdwardMoss , SasjaDuijff Source Type: research

The ontogeny of Robin sequence
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 26, 2018 Category: Genetics & Stem Cells Authors: Robrecht J. H.Logjes , Corstiaan C.Breugem , GijsVan Haaften , Emma C.Paes , Geoffrey H.Sperber , Marie ‐José H.van den Boogaard , Peter G.Farlie Source Type: research

KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer 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 26, 2018 Category: Genetics & Stem Cells Authors: AstridBehnert , BerndAuber , DorisSteinemann , Michael C.Fr ühwald , CarolinHuisinga , KaisHussein , ChristianKratz , TimRipperger Source Type: research

Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions
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 26, 2018 Category: Genetics & Stem Cells Authors: Heather M.Byers , MaidaChen , Andrew S.Gelfand , BruceOng , MarisaJendras , Ian A.Glass Source Type: research

Mutations in SZT2 result in early ‐onset epileptic encephalopathy and leukoencephalopathy
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 26, 2018 Category: Genetics & Stem Cells Authors: AmyPizzino , MatthewWhitehead , ParisaSabet Rasekh , JenniferMurphy , GuyHelman , MiriamBloom , Sarah H.Evans , John G.Murnick , JoanConry , Ryan J.Taft , CasSimons , AdelineVanderver , Laura A.Adang Source Type: research

Delayed peak response of cortisol to insulin tolerance test in patients with Prader –Willi 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: YujiOto , KeikoMatsubara , TadayukiAyabe , MasahisaShiraishi , NobuyukiMurakami , HiroshiIhara , TomoyoMatsubara , ToshiroNagai Source Type: research

A German ‐Jewish refugee in Vichy France 1939–1941. Arno Motulsky's memoir of life in the internment camps at St. Cyprien and Gurs
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 26, 2018 Category: Genetics & Stem Cells Authors: Arno G.Motulsky Source Type: research

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting
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 26, 2018 Category: Genetics & Stem Cells Authors: Cathy A.Stevens , IanKrantz Source Type: research

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 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 - April 26, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research

Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases
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 26, 2018 Category: Genetics & Stem Cells Authors: AnkitaPrasad , OliviaGrocott , KimberlyParkin , AnnaLarson , Ronald L.Thibert Source Type: research

Arno G. Motulsky, 1923 –2018, Luck and Service
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1285-1288, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: John M.Opitz Source Type: research

An assessment of health, social, communication, and daily living skills of adults with Down syndrome
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1389-1397, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Theodora J.Matthews , Dawn C.Allain , Anne L.Matthews , AnnaMitchell , Stephanie L.Santoro , LeslieCohen Source Type: research

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
American Journal of Medical Genetics Part A,Volume 176, Issue 6, Page 1432-1437, June 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 25, 2018 Category: Genetics & Stem Cells Authors: Rachel A.Ungar , NeelamGiri , MarylandPao , Payal P.Khincha , WeiyinZhou , Blanche P.Alter , Sharon A.Savage Source Type: research