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1 . Academic Journal
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
저자
by
Smolen, Corrine
;
Jensen, Matthew
;
Dyer, Lisa
;
Pizzo, Lucilla
;
Tyryshkina, Anastasia
, et al.
소스
In
The American Journal of Human Genetics
7 December 2023 110(12):2015-2028
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7 . Academic Journal
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families.
저자
by
Calì, Francesco
;
Di Blasi, Francesco Domenico
;
Avola, Emanuela
;
Vinci, Mirella
;
Musumeci, Antonino
, et al.
소스
Medicina (1010660X); Aug2023, Vol. 59 Issue 8, p1503, 13p
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7 . Periodical
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
저자
by
Geisheker, Madeleine R
;
Heymann, Gabriel
;
Wang, Tianyun
;
Coe, Bradley P
;
Turner, Tychele N
, et al.
소스
Nature Neuroscience; July 2017, Vol. 20 Issue: 8 p1043-1051, 9p
Scopus
Web of Science
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7 . Academic Journal
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
저자
by
Wang, Tianyun
;
Hoekzema, Kendra
;
Vecchio, Davide
;
Wu, Huidan
;
Sulovari, Arvis
, et al.
소스
NATURE COMMUNICATIONS
; OCT 1 2020, 11 1, p4932 13p.
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7 . Academic Journal
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
저자
by
Pizzo, Lucilla
;
Jensen, Matthew
;
Polyak, Andrew
;
Rosenfeld, Jill A.
;
Mannik, Katrin
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(4):816-825
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7 . Academic Journal
Recurrent Duplications of 17q12 Associated with Variable Phenotypes.
저자
by
Mitchell, Elyse
;
Douglas, Andrew
;
Kjaegaard, Susanne
;
Callewaert, Bert
;
Vanlander, Arnaud
, et al.
소스
American Journal of Medical Genetics. Part A; Dec2015, Vol. 167A Issue 12, p3038-3045, 8p
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7 . Periodical
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
저자
by
Stessman, Holly A F
;
Xiong, Bo
;
Coe, Bradley P
;
Wang, Tianyun
;
Hoekzema, Kendra
, et al.
소스
Nature Genetics; April 2017, Vol. 49 Issue: 4 p515-526, 12p
Scopus
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7 . Academic Journal
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
저자
by
Di Benedetto, Daniela
;
Musumeci, Sebastiano Antonino
;
Avola, Emanuela
;
Alberti, Antonino
;
Buono, Serafino
, et al.
소스
American Journal Of Medical Genetics - A
. Aug 01, 2014 164(8):1923-1930
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7 . Academic Journal
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
저자
by
Romani, Marta
;
Mancini, Francesca
;
Micalizzi, Alessia
;
Poretti, Andrea
;
Miccinilli, Elide
, et al.
소스
Human Genetics
. Jan2015, Vol. 134 Issue 1, p123-126. 4p.
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7 . Periodical
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
저자
by
Koolen, David A
;
Pfundt, Rolph
;
Linda, Katrin
;
Beunders, Gea
;
Veenstra-Knol, Hermine E
, et al.
소스
European Journal of Human Genetics: EJHG; May 2016, Vol. 24 Issue: 5 p652-659, 8p
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