Sat Dev Batish

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

David I. Kutler, Bhuvanesh Singh, Jaya M. Satagopan et al. · Blood · 2003 · 775 citations · Full text

Genetics, Pathology, Aplastic Anemia +19

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Sarah Reid, Detlev Schindler, Helmut Hanenberg et al. · Nature Genetics · 2006 · 640 citations

Biallelic Mutations, Genetic Disorder, Genetics +6

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin, Jacinta M. McMahon, Xenia Iona et al. · Brain · 2007 · 527 citations · Full text

Scn1a Mutations, Subunit Gene Scn1a, Neurological Disorder +11

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Feng Zhang, Mehrdad Khajavi, Anne M. Connolly et al. · Nature Genetics · 2009 · 522 citations · Full text

Genome Instability, Natural Sciences, Genetics +9

The Alzheimer's Association external quality control program for cerebrospinal fluid biomarkers

Niklas Mattsson, Ulf Andréasson, Staffan Persson et al. · Alzheimer s & Dementia · 2011 · 406 citations · Full text