Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Ibrahim Ghemlas; Hongbing Li; Bozana Zlateska; Robert Klaassen; Conrad V Fernandez; Rochelle A Yanofsky; John Wu; Yves Pastore; Mariana Silva; Jeff H Lipton; Josee Brossard; Bruno Michon; Sharon Abish; MacGregor Steele; Roona Sinha; Mark Belletrutti; Vicky R Breakey; Lawrence Jardine; Lisa Goodyear; Lillian Sung; Santhosh Dhanraj; Emma Reble; Amanda Wagner; Joseph Beyene; Peter Ray; Stephen Meyn; Michaela Cada; Yigal Dror

doi:10.1136/jmedgenet-2015-103270

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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

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	Abstract	Full	Pdf
Jul 2015	345	66	81
Aug 2015	613	108	93
Sep 2015	719	135	107
Oct 2015	138	41	26
Nov 2015	132	36	34
Dec 2015	97	53	34
Jan 2016	91	37	18
Feb 2016	76	37	31
Mar 2016	43	29	23
Apr 2016	38	31	25
May 2016	50	22	16
Jun 2016	49	29	22
Jul 2016	33	35	28
Aug 2016	45	38	29
Sep 2016	75	47	34
Oct 2016	42	34	23
Nov 2016	60	44	31
Dec 2016	40	29	33
Jan 2017	50	32	25
Feb 2017	17	30	17
Mar 2017	13	60	32
Apr 2017	11	53	30
May 2017	10	50	21
Jun 2017	24	54	19
Jul 2017	59	50	23
Aug 2017	88	43	16
Sep 2017	101	55	17
Oct 2017	109	76	27
Nov 2017	77	54	28
Dec 2017	65	41	16
Jan 2018	56	38	22
Feb 2018	76	46	15
Mar 2018	71	42	19
Apr 2018	103	92	22
May 2018	104	64	15
Jun 2018	82	51	19
Jul 2018	88	56	19
Aug 2018	89	55	17
Sep 2018	96	50	24
Oct 2018	55	27	13
Nov 2018	74	64	26
Dec 2018	69	59	27
Jan 2019	62	54	20
Feb 2019	66	48	24
Mar 2019	57	51	29
Apr 2019	54	49	20
May 2019	48	40	27
Jun 2019	37	35	18
Jul 2019	48	41	17
Aug 2019	46	36	20
Sep 2019	45	42	24
Oct 2019	62	57	28
Nov 2019	39	29	21
Dec 2019	73	61	23
Jan 2020	60	54	29
Feb 2020	52	44	34
Mar 2020	37	33	24
Apr 2020	46	42	16
May 2020	42	39	15
Jun 2020	41	34	18
Jul 2020	34	27	16
Aug 2020	35	31	17
Sep 2020	56	44	22
Oct 2020	56	24	12
Nov 2020	41	27	11
Dec 2020	51	41	25
Jan 2021	42	34	27
Feb 2021	53	51	23
Mar 2021	56	44	22
Apr 2021	32	28	24
May 2021	46	40	29
Jun 2021	40	40	12
Jul 2021	28	28	27
Aug 2021	19	19	27
Sep 2021	30	31	28
Oct 2021	37	29	26
Nov 2021	39	32	41
Dec 2021	50	36	22
Jan 2022	62	49	28
Feb 2022	31	27	13
Mar 2022	30	22	20
Apr 2022	33	26	11
May 2022	56	45	28
Jun 2022	68	71	42
Jul 2022	39	34	27
Aug 2022	65	53	33
Sep 2022	57	49	25
Oct 2022	61	54	26
Nov 2022	36	28	12
Dec 2022	41	30	12
Jan 2023	62	46	17
Feb 2023	71	51	23
Mar 2023	31	22	16
Apr 2023	30	28	35
May 2023	42	31	21
Jun 2023	29	24	15
Jul 2023	34	25	12
Aug 2023	39	23	16
Sep 2023	81	51	46
Oct 2023	62	35	16
Nov 2023	59	42	19
Dec 2023	81	71	27
Jan 2024	43	43	17
Feb 2024	51	46	15
Mar 2024	53	45	56
Total	7280	4559	2643

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