Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Janneke H M Schuurs-Hoeijmakers; Anneke T Vulto-van Silfhout; Lisenka E L M Vissers; Ilse I G M van de Vondervoort; Bregje W M van Bon; Joep de Ligt; Christian Gilissen; Jayne Y Hehir-Kwa; Kornelia Neveling; Marisol del Rosario; Gausiya Hira; Santina Reitano; Aurelio Vitello; Pinella Failla; Donatella Greco; Marco Fichera; Ornella Galesi; Tjitske Kleefstra; Marie T Greally; Charlotte W Ockeloen; Marjolein H Willemsen; Ernie M H F Bongers; Irene M Janssen; Rolph Pfundt; Joris A Veltman; Corrado Romano; Michèl A Willemsen; Hans van Bokhoven; Han G Brunner; Bert B A de Vries; Arjan P M de Brouwer

doi:10.1136/jmedgenet-2013-101644

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This article has a correction. Please see:

Correction: Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing - July 01, 2018

Cognitive and behavioural genetics

Original article

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

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Oct 2013	655	304	112
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Dec 2013	524	70	72
Jan 2014	306	71	51
Feb 2014	228	61	42
Mar 2014	167	51	30
Apr 2014	119	42	36
May 2014	89	43	42
Jun 2014	85	39	27
Jul 2014	48	35	19
Aug 2014	59	34	30
Sep 2014	41	31	27
Oct 2014	69	38	31
Nov 2014	68	24	15
Dec 2014	65	36	41
Jan 2015	72	48	42
Feb 2015	59	39	37
Mar 2015	74	38	31
Apr 2015	41	49	40
May 2015	52	30	22
Jun 2015	40	49	32
Jul 2015	37	41	35
Aug 2015	35	42	31
Sep 2015	67	38	19
Oct 2015	40	50	27
Nov 2015	87	41	26
Dec 2015	59	65	50
Jan 2016	67	51	35
Feb 2016	35	19	12
Mar 2016	70	34	30
Apr 2016	52	30	26
May 2016	28	29	23
Jun 2016	58	43	45
Jul 2016	35	39	39
Aug 2016	40	28	25
Sep 2016	76	30	39
Oct 2016	67	26	19
Nov 2016	49	39	42
Dec 2016	60	52	55
Jan 2017	41	30	20
Feb 2017	43	21	15
Mar 2017	44	33	11
Apr 2017	44	30	9
May 2017	113	34	21
Jun 2017	62	27	20
Jul 2017	176	24	10
Aug 2017	164	23	11
Sep 2017	136	35	17
Oct 2017	141	27	13
Nov 2017	120	26	12
Dec 2017	223	33	33
Jan 2018	242	36	22
Feb 2018	158	24	15
Mar 2018	166	32	16
Apr 2018	143	41	13
May 2018	224	36	20
Jun 2018	205	47	14
Jul 2018	284	37	17
Aug 2018	181	16	7
Sep 2018	161	17	12
Oct 2018	118	32	19
Nov 2018	169	25	12
Dec 2018	200	11	6
Jan 2019	178	20	12
Feb 2019	150	16	4
Mar 2019	146	26	10
Apr 2019	99	20	7
May 2019	173	24	9
Jun 2019	97	22	6
Jul 2019	137	23	5
Aug 2019	70	12	7
Sep 2019	96	28	15
Oct 2019	127	25	9
Nov 2019	167	17	9
Dec 2019	134	17	10
Jan 2020	142	37	12
Feb 2020	140	19	15
Mar 2020	115	29	15
Apr 2020	128	19	5
May 2020	192	17	8
Jun 2020	182	27	14
Jul 2020	158	13	14
Aug 2020	79	14	7
Sep 2020	218	14	6
Oct 2020	157	21	11
Nov 2020	147	33	13
Dec 2020	100	17	8
Jan 2021	158	19	12
Feb 2021	156	26	6
Mar 2021	154	25	15
Apr 2021	101	21	11
May 2021	48	6	6
Jun 2021	9	9	4
Jul 2021	28	28	13
Aug 2021	15	12	12
Sep 2021	16	15	10
Oct 2021	99	18	11
Nov 2021	183	21	6
Dec 2021	118	17	8
Jan 2022	141	16	5
Feb 2022	140	18	13
Mar 2022	132	14	8
Apr 2022	338	15	11
May 2022	231	11	10
Jun 2022	214	25	17
Jul 2022	190	12	9
Aug 2022	202	24	6
Sep 2022	363	13	10
Oct 2022	151	21	8
Nov 2022	212	18	14
Dec 2022	132	14	4
Jan 2023	114	17	2
Feb 2023	170	22	13
Mar 2023	191	15	7
Apr 2023	112	16	8
May 2023	151	8	3
Jun 2023	105	14	5
Jul 2023	150	19	11
Aug 2023	110	22	6
Sep 2023	148	18	5
Oct 2023	254	12	1
Nov 2023	358	12	5
Dec 2023	157	19	8
Jan 2024	399	17	12
Feb 2024	310	6	5
Mar 2024	307	12	3
Apr 2024	190	8	2
May 2024	168	14	9
Jun 2024	204	19	6
Jul 2024	195	15	6
Aug 2024	107	13	3
Sep 2024	98	11	5
Oct 2024	221	13	7
Nov 2024	121	14	9
Total	19997	4425	2470

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