Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Claire Redin; Stéphanie Le Gras; Oussema Mhamdi; Véronique Geoffroy; Corinne Stoetzel; Marie-Claire Vincent; Pietro Chiurazzi; Didier Lacombe; Ines Ouertani; Florence Petit; Marianne Till; Alain Verloes; Bernard Jost; Habiba Bouhamed Chaabouni; Helene Dollfus; Jean-Louis Mandel; Jean Muller

doi:10.1136/jmedgenet-2012-100875

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

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	Abstract	Full	Pdf
Jul 2012	638	308	195
Aug 2012	675	437	184
Sep 2012	529	224	87
Oct 2012	394	186	181
Nov 2012	306	167	110
Dec 2012	231	200	67
Jan 2013	201	166	61
Feb 2013	68	87	43
Mar 2013	73	84	83
Apr 2013	101	100	37
May 2013	79	62	74
Jun 2013	37	43	46
Jul 2013	83	39	22
Aug 2013	58	49	24
Sep 2013	97	86	77
Oct 2013	69	55	55
Nov 2013	51	70	26
Dec 2013	48	155	82
Jan 2014	45	65	28
Feb 2014	45	85	30
Mar 2014	50	68	36
Apr 2014	59	62	25
May 2014	55	63	18
Jun 2014	48	46	12
Jul 2014	25	56	23
Aug 2014	38	52	10
Sep 2014	46	83	31
Oct 2014	52	76	43
Nov 2014	37	48	77
Dec 2014	42	67	48
Jan 2015	25	45	18
Feb 2015	20	45	38
Mar 2015	18	45	20
Apr 2015	31	41	15
May 2015	44	34	20
Jun 2015	19	27	19
Jul 2015	28	44	23
Aug 2015	25	36	12
Sep 2015	27	40	27
Oct 2015	13	21	7
Nov 2015	40	44	19
Dec 2015	34	25	20
Jan 2016	34	36	13
Feb 2016	20	19	10
Mar 2016	24	17	58
Apr 2016	27	20	22
May 2016	22	34	13
Jun 2016	11	19	14
Jul 2016	32	29	18
Aug 2016	28	16	10
Sep 2016	35	10	16
Oct 2016	32	25	27
Nov 2016	23	19	9
Dec 2016	18	31	8
Jan 2017	33	24	27
Feb 2017	18	22	16
Mar 2017	8	36	22
Apr 2017	4	41	16
May 2017	4	78	20
Jun 2017	19	51	12
Jul 2017	51	47	16
Aug 2017	67	59	8
Sep 2017	94	88	15
Oct 2017	88	76	11
Nov 2017	70	56	14
Dec 2017	60	52	12
Jan 2018	93	71	14
Feb 2018	53	48	6
Mar 2018	75	57	7
Apr 2018	44	40	3
May 2018	53	47	7
Jun 2018	52	36	5
Jul 2018	84	73	6
Aug 2018	70	66	11
Sep 2018	58	50	14
Oct 2018	55	47	8
Nov 2018	58	56	7
Dec 2018	40	36	6
Jan 2019	38	36	14
Feb 2019	39	33	7
Mar 2019	43	27	9
Apr 2019	47	39	16
May 2019	63	47	12
Jun 2019	41	38	11
Jul 2019	40	30	17
Aug 2019	55	41	4
Sep 2019	24	16	6
Oct 2019	29	27	11
Nov 2019	39	27	8
Dec 2019	38	25	11
Jan 2020	37	29	8
Feb 2020	42	35	9
Mar 2020	41	32	12
Apr 2020	36	28	16
May 2020	69	63	7
Jun 2020	62	58	9
Jul 2020	45	41	9
Aug 2020	58	46	24
Sep 2020	43	33	17
Oct 2020	36	34	13
Nov 2020	60	29	14
Dec 2020	45	35	10
Jan 2021	37	23	19
Feb 2021	27	26	12
Mar 2021	43	37	14
Apr 2021	34	15	13
May 2021	20	16	5
Jun 2021	23	23	14
Jul 2021	32	31	12
Aug 2021	26	25	13
Sep 2021	30	28	23
Oct 2021	33	29	23
Nov 2021	56	36	36
Dec 2021	16	17	14
Jan 2022	42	34	19
Feb 2022	41	38	8
Mar 2022	57	41	19
Apr 2022	36	28	16
May 2022	43	42	24
Jun 2022	52	47	13
Jul 2022	29	29	16
Aug 2022	88	73	36
Sep 2022	37	42	22
Oct 2022	65	56	18
Nov 2022	38	33	10
Dec 2022	31	27	10
Jan 2023	52	46	25
Feb 2023	44	41	19
Mar 2023	27	21	18
Apr 2023	13	11	10
May 2023	43	22	26
Jun 2023	36	22	20
Jul 2023	30	22	21
Aug 2023	23	19	12
Sep 2023	16	14	9
Oct 2023	24	22	11
Nov 2023	45	36	14
Dec 2023	55	52	18
Jan 2024	61	40	76
Feb 2024	41	31	62
Mar 2024	64	45	26
Total	8741	7357	3624

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